|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly essential (E-score: 0.744)|
|Stock #||R1479 (G1)|
|Chromosomal Location||46240987-46311434 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 46295978 bp|
|Amino Acid Change||Isoleucine to Valine at position 2220 (I2220V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130949 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000164538] [ENSMUST00000209802]|
|Predicted Effect||possibly damaging
AA Change: I2220V
PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: I2220V
|Predicted Effect||probably benign
AA Change: I35V
PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|Meta Mutation Damage Score||0.0737|
|Coding Region Coverage||
|Validation Efficiency||96% (81/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygotes for a number of different spontaneous and targeted mutations exhibit vestibular dysfunction, including circling, head tilt, impaired balance, coordination, and placing response. Mutants have impaired hearing, decreased brain stem auditory evoked potential, and ear abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Otog||
(F):5'- GCACCCTGTGAGATTTAGCCTTCC -3'
(R):5'- ACTCAGCACTGGCAGTTCTCTTGG -3'
(F):5'- gatgggtgagatggatggg -3'
(R):5'- GGCAGTTCTCTTGGTCCTTC -3'