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Mlh3 Gene Detail
Summary
  • Symbol
    Mlh3
  • Name
    mutL homolog 3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353455
    NCBI Gene: 217716
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:85281294-85317373 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 39.61 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    954 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1353455
 protein coding gene Chr12:85281240-85317421 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019956
 protein coding gene Chr12:86000296-86039059 (-)
A/J MGP_AJ_G0019913
 protein coding gene Chr12:82737138-82772905 (-)
AKR/J MGP_AKRJ_G0019889
 protein coding gene Chr12:84978907-85019483 (-)
BALB/cJ MGP_BALBcJ_G0019893
 protein coding gene Chr12:83082608-83118941 (-)
C3H/HeJ MGP_C3HHeJ_G0019699
 protein coding gene Chr12:85452473-85490029 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020344
 protein coding gene Chr12:88478690-88522151 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017962
 protein coding gene Chr12:79624940-79661349 (-)
CAST/EiJ MGP_CASTEiJ_G0019248
 protein coding gene Chr12:80421652-80459485 (-)
CBA/J MGP_CBAJ_G0019670
 protein coding gene Chr12:91865321-91900966 (-)
DBA/2J MGP_DBA2J_G0019785
 protein coding gene Chr12:82254944-82290916 (-)
FVB/NJ MGP_FVBNJ_G0019771
 protein coding gene Chr12:81217124-81253612 (-)
LP/J MGP_LPJ_G0019857
 protein coding gene Chr12:85877737-85914531 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019810
 protein coding gene Chr12:94745522-94782124 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020378
 protein coding gene Chr12:84584808-84620530 (-)
PWK/PhJ MGP_PWKPhJ_G0019012
 protein coding gene Chr12:76754887-76793963 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018807
 protein coding gene Chr12:79065934-79102076 (-)
WSB/EiJ MGP_WSBEiJ_G0019300
 protein coding gene Chr12:85309159-85345826 (-)



Homology
more
  • Human Ortholog
    MLH3, mutL homolog 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MLH3, mutL homolog 3
  • Synonyms
    HNPCC7
  • Links
    NCBI Gene ID: 27030
    neXtProt AC: NX_Q9UHC1
    UniProt: Q9UHC1

  • Chr Location
    14q24.3; chr14:75013769-75051532 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with human MLH3 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    28 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.
Homozygotes for a targeted null mutation are sterile. Both oocytes and spermatocytes exhibit meiotic block and die.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    9
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
    722
  • Tissues
    11
  • cDNA Data
    50
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021245 Ensembl Gene Model | MGI Sequence Detail 36080 C57BL/6J ±  kb
    transcript ENSMUST00000220854 Ensembl | MGI Sequence Detail 4699 Not Applicable  
    polypeptide ENSMUSP00000152840 Ensembl | MGI Sequence Detail 1443 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • InterPro Domains
      IPR014762 DNA mismatch repair, conserved site
      IPR002099 DNA mismatch repair protein MutL/Mlh/PMS
      IPR038973 DNA mismatch repair protein MutL/Mlh/Pms-like
      IPR013507 DNA mismatch repair protein, S5 domain 2-like
      IPR036890 Histidine kinase/HSP90-like ATPase superfamily
      IPR014790 MutL, C-terminal, dimerisation
      IPR042120 MutL, C-terminal domain, dimerisation subdomain
      IPR042121 MutL, C-terminal domain, regulatory subdomain
      IPR037198 MutL, C-terminal domain superfamily
      IPR020568 Ribosomal protein uS5 domain 2-type superfamily
      IPR014721 Small ribosomal subunit protein uS5 domain 2-type fold, subgroup
    Molecular
    Reagents
    less
    • All nucleic 52
      cDNA 50
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2144983, MGI:2145070
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 9
      Gene Ontology 9
      Phenotypes 28
    • Earliest
      J:59324 Lipkin SM, et al., MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet. 2000 Jan;24(1):27-35
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory