|Institutional Source||Beutler Lab|
|Gene Name||myosin, heavy polypeptide 9, non-muscle|
|Synonyms||NMHC II-A, D0Jmb2, myosin IIA, Fltn, Myhn1, Myhn-1, E030044M24Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7254 (G1)|
|Chromosomal Location||77760587-77842175 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 77765824 bp (GRCm38)|
|Amino Acid Change||Glutamine to Proline at position 1646 (Q1646P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000016771 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000016771]|
AA Change: Q1646P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Q1646P
|Meta Mutation Damage Score||0.8918|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous null mice display hearing loss with incomplete penetrance. Mice homozygous or heterozygous for one of several knock-in alleles exhibit macrothrombocytopenia, nephritis, cataracts and deafness. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myh9||
(F):5'- TGCTGACTCCTACTCCTGAG -3'
(R):5'- GTCTAGTAAGGAAGGCACACGC -3'
(F):5'- TACAGCTGCTGCCCTGAG -3'
(R):5'- CAGAGCCACCTGCCTTTG -3'