|Institutional Source||Beutler Lab|
|Gene Name||myosin IA|
|Synonyms||brush border myosin 1, BBM-I, Myhl|
|Is this an essential gene?||Probably non essential (E-score: 0.174)|
|Stock #||R3812 (G1)|
|Chromosomal Location||127705170-127720940 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 127707415 bp|
|Amino Acid Change||Asparagine to Serine at position 180 (N180S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078540 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079590]|
|Predicted Effect||possibly damaging
AA Change: N180S
PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: N180S
|Meta Mutation Damage Score||0.1474|
|Coding Region Coverage||
|Validation Efficiency||100% (28/28)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice display abnormal small intestine brush border morphology, but have normal hearing. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myo1a||
(F):5'- TGAGTGAACACATCTGCCCC -3'
(R):5'- ATGCATCCATCTGAAAGCCC -3'
(F):5'- GGTGGGCAGGAAGAACTC -3'
(R):5'- ATCTGAAAGCCCAGGGGACTC -3'