|Institutional Source||Beutler Lab|
|Gene Name||mucolipin 3|
|Synonyms||varitint-waddler, Va, 6720490O21Rik, TRPML3|
|Is this an essential gene?||Probably non essential (E-score: 0.121)|
|Stock #||R4366 (G1)|
|Chromosomal Location||146117450-146141806 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 146140492 bp|
|Amino Acid Change||Threonine to Lysine at position 519 (T519K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038801 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039450]|
|Predicted Effect||possibly damaging
AA Change: T519K
PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: T519K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||95% (57/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: 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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mcoln3||
(F):5'- ACTACTGCAGAGTCTCAGGAC -3'
(R):5'- GTTGCGTGATCACAAATAATCTCTGG -3'
(F):5'- GCAGAGTCTCAGGACCATTTAACTTC -3'
(R):5'- GTGATCACAAATAATCTCTGGCTCAG -3'