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Mut Gene Detail
Summary
  • Symbol
    Mut
  • Name
    methylmalonyl-Coenzyme A mutase
  • Synonyms
    D230010K02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:97239
    NCBI Gene: 17850
  • Gene Overview
    MyGene.info: MUT
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr17:40934685-40961989 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27305 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 19.55 cM, cytoband C-D
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    MUT, methylmalonyl-CoA mutase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MUT, methylmalonyl-CoA mutase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MCM
  • Links
    NCBI Gene ID: 4594
    neXtProt AC: NX_P22033
    UniProt: P22033

  • Chr Location
    6p12.3; chr6:49430360-49463328 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Mut mouse models; 1 with human MUT associations

Human Disease Mouse Models
      
IDs
View 7 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    59 phenotypes from 4 alleles in 5 genetic backgrounds
    10 phenotypes from multigenic genotypes
    3 images
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000023921 Ensembl Gene Model | MGI Sequence Detail 27305 C57BL/6J ±  kb
    transcript ENSMUST00000169611 Ensembl | MGI Sequence Detail 3675 Not Applicable  
    polypeptide ENSMUSP00000130941 Ensembl | MGI Sequence Detail 748 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      366 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000010782 methylmalonyl-CoA mutase, mitochondrial
    • EC
    • InterPro Domains
      IPR036724 Cobalamin-binding domain superfamily
      IPR006158 Cobalamin (vitamin B12)-binding domain
      IPR016176 Cobalamin (vitamin B12)-dependent enzyme, catalytic
      IPR006099 Methylmalonyl-CoA mutase, alpha/beta chain, catalytic
      IPR006098 Methylmalonyl-CoA mutase, alpha chain, catalytic
      IPR006159 Methylmalonyl-CoA mutase, C-terminal
    Molecular
    Reagents
    less
    • All nucleic 94
      Genomic 3
      cDNA 90
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-12719, MGI:2441954
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 2
      Diseases 5
      Gene Ontology 6
      Phenotypes 12
    • 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:237040 Forny P, et al., Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. J Biol Chem. 2016 Sep 23;291(39):20563-73

    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
    07/10/2018
    MGI 6.12
    The Jackson Laboratory