|Institutional Source||Beutler Lab|
|Gene Name||myosin VA|
|Synonyms||9630007J19Rik, Dbv, flail, MVa, Myo5, MyoVA|
|Is this an essential gene?||Probably essential (E-score: 0.948)|
|Stock #||R6838 (G1)|
|Chromosomal Location||75071015-75223688 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 75153883 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000117493 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000123128] [ENSMUST00000123531] [ENSMUST00000136731] [ENSMUST00000155282]|
|Coding Region Coverage||
|Validation Efficiency||97% (64/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myo5a||
(F):5'- TTGCTGATGTCGCAGAAGAC -3'
(R):5'- TGTAATCAACTCAAGTTACAGTGGG -3'
(F):5'- TGTCGCAGAAGACCTTTAGC -3'
(R):5'- AAAACCCAGATGGCAGTACTG -3'