|Institutional Source||Beutler Lab|
|Gene Name||myosin IIIA|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4445001 (G1)|
|Chromosomal Location||22227503-22618252 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 22542415 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 813 (E813V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046329 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044749]|
|Predicted Effect||possibly damaging
AA Change: E813V
PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: E813V
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired hearing and cochlear hair cell degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myo3a||
(F):5'- TCAGGGCTTCAGGGTCAGAG -3'
(R):5'- CAGATAGAGACAAGATATTTTCACCTC -3'
(F):5'- TGAGACCTACCAAGTGTTGC -3'
(R):5'- TTCACCTCAATTAGAACCATCTTTC -3'