|Institutional Source||Beutler Lab|
|Gene Name||ATPase, class V, type 10A|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R1715 (G1)|
|Chromosomal Location||58656166-58829420 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 58786505 bp|
|Amino Acid Change||Valine to Isoleucine at position 348 (V348I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000129811 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000168747]|
|Predicted Effect||probably damaging
AA Change: V348I
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: V348I
|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 family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene at the distal end of the p23DFiOD deletion may be responsible for the obesity phenotypes associated with that deletion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp10a||
(F):5'- CTCTGGATGGGAGCAAAACTCAGTG -3'
(R):5'- TGAACTGGAAAGTCACCAAAGAGCC -3'
(F):5'- TTATGACAAAGAAAGCTGATAGAACG -3'
(R):5'- GATTTGTGATTCTTCAAGATGCAG -3'