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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
Location & Maps
more
  • Sequence Map
    Chr12:85234520-85270599 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36080 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 39.61 cM
  • Mapping Data
    3 experiments
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
    2 with human MLH3 associations

Human Disease Mouse Models
      
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 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
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
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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 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
    Polymorphisms
    less
    • SNPs within 2kb
      101 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • InterPro Domains
      IPR014762 DNA mismatch repair, conserved site
      IPR028830 DNA mismatch repair protein Mlh3
      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 51
      cDNA 49
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2144983, MGI:2145070
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 7
      Gene Ontology 9
      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
    Citing These Resources
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory