|Institutional Source||Beutler Lab|
|Gene Name||transmembrane channel-like gene family 1|
|Synonyms||4933416G09Rik, Beethoven, Bth|
|Is this an essential gene?||Probably non essential (E-score: 0.101)|
|Stock #||R8786 (G1)|
|Chromosomal Location||20783458-20954202 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 20826589 bp|
|Amino Acid Change||Tyrosine to Histidine at position 375 (Y375H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040859 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039500]|
|Predicted Effect||probably damaging
AA Change: Y375H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y375H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice are characterized by progressive degeneration of the cochlear inner hair cells and concomitant deafness. Different alleles causing progressive deafness or profound congenital deafness. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmc1||
(F):5'- AGCATCCTTGTCTCACACTCAG -3'
(R):5'- CGGAATGCACTTTACGGAATTTC -3'
(F):5'- TTGTCTCACACTCAGCTACAGAAG -3'
(R):5'- GCACTTTACGGAATTTCAGATTTTAG -3'