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Mmut methylmalonyl-Coenzyme A mutase [ Mus musculus (house mouse) ]

Gene ID: 17850, updated on 21-Apr-2024

Summary

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Official Symbol
Mmutprovided by MGI
Official Full Name
methylmalonyl-Coenzyme A mutaseprovided by MGI
Primary source
MGI:MGI:97239
See related
Ensembl:ENSMUSG00000023921 AllianceGenome:MGI:97239
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Mcm; Mut; D230010K02Rik
Summary
Enables methylmalonyl-CoA mutase activity. Acts upstream of or within post-embryonic development. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; lung; nervous system; and trophectoderm. Used to study methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Human ortholog(s) of this gene implicated in methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Orthologous to human MMUT (methylmalonyl-CoA mutase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney adult (RPKM 18.8), liver E18 (RPKM 12.2) and 24 other tissues See more
Orthologs
human all
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Genomic context

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Location:
17 B2; 17 19.55 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (41245576..41272880)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (40934685..40961990)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 9130008F23 gene Neighboring gene glycine-N-acyltransferase-like 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:41071423-41071532 Neighboring gene centromere protein Q Neighboring gene predicted gene, 54006 Neighboring gene STARR-seq mESC enhancer starr_42552 Neighboring gene lactate dehydrogenase A, pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Forny P, et al. Nat Metab, 2023 Jan. PMID 36717752, Free PMC Article
  2. Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing. Venturoni LE, et al. Mol Genet Metab, 2022 Sep-Oct. PMID 35868241, Free PMC Article
  3. In vivo genome editing at the albumin locus to treat methylmalonic acidemia. Schneller JL, et al. Mol Ther Methods Clin Dev, 2021 Dec 10. PMID 34901307, Free PMC Article
  4. Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia. Chandler RJ, et al. Hepatology, 2021 Jun. PMID 32976669, Free PMC Article
  5. In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria. Lucienne M, et al. Biochim Biophys Acta Mol Basis Dis, 2020 Mar 1. PMID 31770620

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
    Title: Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
  2. Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia.
    Title: Promoterless, Nuclease-Free Genome Editing Confers a Growth Advantage for Corrected Hepatocytes in Mice With Methylmalonic Acidemia.
  3. We confirmed significant NH4(+) accumulation in culture media of Mut(-/-) aggregates, suggesting that intracellular NH4(+) concentrations might even be higher, gave first clues on the mechanisms leading to NH4(+) accumulation in Mut(-/-) brain cells, and showed the involvement of neuroinflammatory processes in the neuropathophysiology of Methylmalonic aciduria .
    Title: New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.
  4. On a high protein diet, mutant mice display disease exacerbation, including elevated blood ammonia, and catastrophic weight loss, which, in Mut(ki/ki) mice, is rescued by hydroxocobalamin treatment. This study expands knowledge of MMAuria, introduces the discovery of new biomarkers, and constitutes the first in vivo proof of principle of cobalamin treatment in mut-type MMAuria.
    Title: Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
  5. The mouse methylmalonic aciduria- related genes, Mmaa, Mmab, and Mut may have specialized functions depending on the tissue or cell type.
    Title: The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis.
  6. Includes the study of an upstream ORF in this gene, and shows that it functions to reduce protein levels by ~61%.
    Title: Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
  7. Mitochondrial dysfunction in Mut is reported.
    Title: Mitochondrial dysfunction in mut methylmalonic acidemia.
  8. methylmalonyl-CoA mutase has a role in methylmalonic aciduria and early neonatal lethality
    Title: A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase activity ISO
Inferred from Sequence Orthology
more info
  
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables cobalamin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cobalamin binding ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables intramolecular transferase activity IEA
Inferred from Electronic Annotation
more info
  
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables methylmalonyl-CoA mutase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables methylmalonyl-CoA mutase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables methylmalonyl-CoA mutase activity ISO
Inferred from Sequence Orthology
more info
  
enables modified amino acid binding ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in homocysteine metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of GTPase activity ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within post-embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in propionate metabolic process, methylmalonyl pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in succinyl-CoA biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrial matrix ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
methylmalonyl-CoA mutase, mitochondrial
Names
methylmalonyl-CoA isomerase
NP_032676.2
XP_017172780.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_008650.3 → NP_032676.2  methylmalonyl-CoA mutase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_032676.2

    Status: VALIDATED

    Source sequence(s)
    AC121875, AC121932, AK012766, BY262299
    Consensus CDS
    CCDS37618.1
    UniProtKB/Swiss-Prot
    P16332, Q3UJU1
    UniProtKB/TrEMBL
    Q8VED0
    Related
    ENSMUSP00000130941.3, ENSMUST00000169611.4
    Conserved Domains (3) summary
    TIGR00640
    Location:611 → 741
    acid_CoA_mut_C; methylmalonyl-CoA mutase C-terminal domain
    PRK09426
    Location:39 → 739
    PRK09426; methylmalonyl-CoA mutase; Reviewed
    cd03679
    Location:38 → 572
    MM_CoA_mutase_alpha_like; Coenzyme B12-dependent-methylmalonyl coenzyme A (CoA) mutase (MCM) family, Alpha subunit-like subfamily; contains proteins similar to the alpha subunit of Propionbacterium shermanni MCM, as well as human and E. coli MCM. Members of this subfamily contain ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    41245576..41272880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017317291.3 → XP_017172780.1  methylmalonyl-CoA mutase, mitochondrial isoform X1

    Conserved Domains (1) summary
    PRK09426
    Location:1 → 489
    PRK09426; methylmalonyl-CoA mutase; Reviewed
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P16332.2 GenPept UniProtKB/Swiss-Prot:P16332

Gene LinkOut

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