|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.226)|
|Stock #||R4375 (G1)|
|Chromosomal Location||121363728-121387168 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 121380823 bp|
|Amino Acid Change||Serine to Proline at position 14 (S14P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039378 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038389]|
AA Change: S14P
AA Change: S14P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0869|
|Coding Region Coverage||
|Validation Efficiency||100% (37/37)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit progressive hearing loss from P15 with abnormal cochlear outer hair cell stereociliary bundle morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Strc||
(F):5'- CACCAGTTTTAAAAGGAGGGC -3'
(R):5'- TTTCCTGAGAGACCACACGAC -3'
(F):5'- GTTCAATTCCCAGCAACTACATGGTG -3'
(R):5'- CGACAGTGTCAGAGGAACCC -3'