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Mut
Gene Detail
Symbol

Name
ID
Mut
methylmalonyl-Coenzyme A mutase
MGI:97239
Synonyms
D230010K02Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 17
19.55 cM, cytoband C-D
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr17:40934685-40961989 bp, + strand
From NCBI annotation of GRCm38

  27305 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20097  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MUT
Protein SuperFamily: methylmalonyl-CoA mutase
Gene Tree: Mut

Human
homologs
MUT, methylmalonyl CoA mutase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4594
neXtProt AC: NX_P22033

Human Synonyms: MCM

Human Chr (Location): 6p12.3; chr6:49430360-49463328 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MUT

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(4) Targeted(3) Transgenic(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria.
 
Human Diseases Modeled in Mice Using Mut (1)    Mutations Annotated to Human Diseases (5)    Phenotype Images(3)
Interactions
Mut interacts with 190 markers (Mir1b, Mir10b, Mir16-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process homocysteine metabolic process, metabolic process, ...
Component mitochondrion
Function catalytic activity, cobalamin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (123)    Tissues (123)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 123
cDNA source data(87)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mut    NEW 
Molecular
reagents
All nucleic(93) Genomic(3) cDNA(89) Primer pair(1)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000023921 (Evidence)
Entrez Gene 17850 (Evidence)
UniGene 259884
DFCI TC1576065, TC1687305
DoTS DT.493366
NIA Mouse Gene Index U017986
EC 5.4.99.2
Consensus CDS Project CCDS37618.1
International Mouse Phenotyping Consortium Status Mut
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 17850 NCBI Gene Model | MGI Sequence Detail 27305 C57BL/6J ±  kb
transcript NM_008650 RefSeq | MGI Sequence Detail 3675 C57BL/6 
polypeptide P16332 UniProt | EBI | MGI Sequence Detail 748 Not Applicable 

For the selected sequences
All sequences(25) RefSeq(2) UniProt(5)
Polymorphisms
RFLP(1) : SNPs within 2kb(367 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006158 Cobalamin (vitamin B12)-binding domain
InterPro IPR016176 Cobalamin (vitamin B12)-dependent enzyme, catalytic
InterPro IPR014348 Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain
InterPro IPR006099 Methylmalonyl-CoA mutase, alpha/beta chain, catalytic
InterPro IPR006098 Methylmalonyl-CoA mutase, alpha chain, catalytic
InterPro IPR006159 Methylmalonyl-CoA mutase, C-terminal
Protein Ontology PR:000010782 methylmalonyl-CoA mutase, mitochondrial
Graphical View of Protein Domain Structure
References
(Earliest) J:10445 Sertic J, et al., Mapping of the L-methylmalonyl-CoA mutase gene to mouse chromosome 17. Genomics. 1990 Mar;6(3):560-4
(Latest) J:220387 Chandler RJ, et al., Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy. J Clin Invest. 2015 Feb;125(2):870-80
All references(46)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-12719, MGI:2441954

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory