About   Help   FAQ
Mmut Gene Detail
Summary
  • Symbol
    Mmut
  • Name
    methylmalonyl-Coenzyme A mutase
  • Synonyms
    D230010K02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:97239
    NCBI Gene: 17850
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:41245576-41272879 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 19.55 cM, cytoband C-D
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1191 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97239
 protein coding gene Chr17:41245576-41272880 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023765
 protein coding gene Chr17:41749526-41776452 (+)
A/J MGP_AJ_G0023723
 protein coding gene Chr17:40788139-40817786 (+)
AKR/J MGP_AKRJ_G0023694
 protein coding gene Chr17:40965961-40992934 (+)
BALB/cJ MGP_BALBcJ_G0023727
 protein coding gene Chr17:40726421-40756573 (+)
C3H/HeJ MGP_C3HHeJ_G0023491
 protein coding gene Chr17:41666903-41693735 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024169
 protein coding gene Chr17:43614211-43640852 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021620
 protein coding gene Chr17:37877828-37905010 (+)
CAST/EiJ MGP_CASTEiJ_G0022972
 protein coding gene Chr17:41664658-41693455 (+)
CBA/J MGP_CBAJ_G0023467
 protein coding gene Chr17:45154429-45184117 (+)
DBA/2J MGP_DBA2J_G0023593
 protein coding gene Chr17:39601755-39629292 (+)
FVB/NJ MGP_FVBNJ_G0023560
 protein coding gene Chr17:39245698-39272603 (+)
LP/J MGP_LPJ_G0023674
 protein coding gene Chr17:42388231-42418881 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023589
 protein coding gene Chr17:44599569-44630830 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024215
 protein coding gene Chr17:41293233-41320450 (+)
PWK/PhJ MGP_PWKPhJ_G0022717
 protein coding gene Chr17:38962256-38989554 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022532
 protein coding gene Chr17:38273785-38303107 (+)
WSB/EiJ MGP_WSBEiJ_G0023037
 protein coding gene Chr17:41853603-41880668 (+)



Homology
more
  • Human Ortholog
    MMUT, methylmalonyl-CoA mutase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MMUT, methylmalonyl-CoA mutase
  • Synonyms
    MCM, MUT
  • Links
    NCBI Gene ID: 4594
    neXtProt AC: NX_P22033
    UniProt: P22033

  • Chr Location
    6p12.3; chr6:49430360-49463253 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mmut mouse models; 1 with human MMUT associations

Human Disease Mouse Models
      
IDs
 View 9 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    64 phenotypes from 6 alleles in 5 genetic backgrounds
    10 phenotypes from multigenic genotypes
    3 images
    26 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
less
  • All GO Annotations
    28
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    829
  • Tissues
    123
  • cDNA Data
    88
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000023921 Ensembl Gene Model | MGI Sequence Detail 27304 C57BL/6J ±  kb
    transcript ENSMUST00000169611 Ensembl | MGI Sequence Detail 3674 Not Applicable  
    polypeptide ENSMUSP00000130941 Ensembl | MGI Sequence Detail 748 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000010782 methylmalonyl-CoA mutase, mitochondrial
      (term hierarchy)
    • EC
      5.4.99.2
    • 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
    • GlyGen
      P16332 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    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, MGI:6277096
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 3
      Diseases 6
      Gene Ontology 10
      Phenotypes 26
    • 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:348785 Zhang D, et al., Maternal Ezh1/2 deficiency impairs the function of mitochondria in mouse oocytes and early embryos. J Cell Physiol. 2024 Mar 26;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory