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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
  • Gene Overview
    MyGene.info: MLH3
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:85234520-85270599 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 39.61 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    101 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 Chr12:85234466-85270645 (-)
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
    10
  • Human Ortholog
    MLH3, mutL homolog 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HNPCC7
  • Links
    NCBI Gene ID: 27030
    neXtProt AC: NX_Q9UHC1
    UniProt: Q9UHC1

  • Chr Location
    14q24.3; chr14:75013764-75051532 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 91153
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: MLH3
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human MLH3 associations

Human Disease Mouse Models
      
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 1 allele in 1 genetic background
    21 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    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
      IPR028830 DNA mismatch repair protein Mlh3
      IPR038973 DNA mismatch repair protein MutL/Mlh/Pms
      IPR013507 DNA mismatch repair protein, S5 domain 2-like
      IPR003594 Histidine kinase/HSP90-like ATPase
      IPR036890 Histidine kinase/HSP90-like ATPase superfamily
      IPR014790 MutL, C-terminal, dimerisation
      IPR037198 MutL, C-terminal domain superfamily
      IPR020568 Ribosomal protein S5 domain 2-type fold
      IPR014721 Ribosomal protein S5 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 55
      Developmental Gene Expression 7
      Gene Ontology 10
      Phenotypes 21
    • 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:252795 Zelazowski MJ, et al., Age-Dependent Alterations in Meiotic Recombination Cause Chromosome Segregation Errors in Spermatocytes. Cell. 2017 Oct 19;171(3):601-614.e13

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory