|Institutional Source||Beutler Lab|
|Gene Name||transmembrane inner ear|
|Is this an essential gene?||Probably non essential (E-score: 0.062)|
|Stock #||R4713 (G1)|
|Chromosomal Location||110865711-110880113 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 110867528 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 95 (L95P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000060148 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000050958] [ENSMUST00000051097]|
AA Change: L95P
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: L95P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mutations in this gene cause circling behavior and deafness in homozygous mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmie||
(F):5'- GGCAGACACAGGTTCAATTGG -3'
(R):5'- CGTGCATCTGTGTAAAGTCAG -3'
(F):5'- TTCAATTGGAACAGTGGGAGTG -3'
(R):5'- CTTTTGCAGAAATCTCCTGTGAG -3'