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Mcoln3 Gene Detail
Summary
  • Symbol
    Mcoln3
  • Name
    mucolipin 3
  • Synonyms
    6720490O21Rik, TRPML3, Va, varitint-waddler
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890500
    NCBI Gene: 171166
  • Gene Overview
    MyGene.info: MCOLN3
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr3:146117450-146141806 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24357 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 71.03 cM
  • Mapping Data
    55 experiments
Homology
more
  • Human Ortholog
    MCOLN3, mucolipin 3
  • Vertebrate Orthologs
    11
  • Human Ortholog
    MCOLN3, mucolipin 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    TRPML3, TRP-ML3
  • Links
    NCBI Gene ID: 55283
    neXtProt AC: NX_Q8TDD5
    UniProt: Q8TDD5

  • Chr Location
    1p22.3; chr1:85018082-85048902 (-)  GRCh38.p7

Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    36 phenotypes from 3 alleles in 11 genetic backgrounds
    2 phenotypes from multigenic genotypes
    1 images
    25 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.
Heterozygotes show normal/diluted/white hair patches, circling, hyperactivity, deafness, and reduced fertility. Homozygotes are white with small patches of color and show severe behavioral abnormalities, poor postnatal viability and are nearly infertile.
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
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000026569 VEGA Gene Model | MGI Sequence Detail 24357 C57BL/6J ±  kb
    transcript OTTMUST00000065733 VEGA | MGI Sequence Detail 2991 Not Applicable  
    polypeptide OTTMUSP00000032798 VEGA | MGI Sequence Detail 553 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      472 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 17
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-15379, MGI:2444485, MGI:98922
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 5
      Phenotypes 25
    • Earliest
      J:13133 Cloudman AM, et al., The varitint-waddler mouse. A dominant mutation in Mus musculus. J Hered. 1945;36:258-263
    • Latest
      J:260847 Wiwatpanit T, et al., Codeficiency of Lysosomal Mucolipins 3 and 1 in Cochlear Hair Cells Diminishes Outer Hair Cell Longevity and Accelerates Age-Related Hearing Loss. J Neurosci. 2018 Mar 28;38(13):3177-3189

    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
    07/10/2018
    MGI 6.12
    The Jackson Laboratory