|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1961 (G1)|
|Chromosomal Location||121081650-121163097 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 121118569 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 336 (D336E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044177 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047025] [ENSMUST00000163275]|
|Predicted Effect||probably benign
AA Change: D336E
PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: D336E
AA Change: M18K
AA Change: M19K
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (93/94)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hearing loss, detachment of the tectorial membrane from the spiral limbus, abnormal tectorial membrane morphology, absence of Hensen's stripe and increased cochlear nerve coumpond action potential threshold. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Otoa||
(F):5'- GAGCTGATGATCCAGGTAGGTG -3'
(R):5'- AACACACCCATGTTTTGTCTACAC -3'
(F):5'- ATCCAGGTAGGTGGTGCAG -3'
(R):5'- CATCTGCCAGGATTGAAGTGC -3'