Mutagenetix > Incidental Mutations

Incidental Mutation 'R5834:Atp10a'

449467

Institutional Source

Beutler Lab

Gene Symbol

Atp10a

Ensembl Gene

ENSMUSG00000025324

Gene Name

ATPase, class V, type 10A

Synonyms

Atp10c, pfatp

MMRRC Submission

044055-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R5834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58656166-58829420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58658618 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 55 (L55Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168747] [ENSMUST00000207668]

Predicted Effect

probably benign
Transcript: ENSMUST00000168747
AA Change: L55Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: L55Q

Domain	Start	End	E-Value	Type
low complexity region	15	32	N/A	INTRINSIC
Pfam:PhoLip_ATPase_N	55	114	5.2e-23	PFAM
Pfam:E1-E2_ATPase	120	393	6.6e-10	PFAM
low complexity region	633	643	N/A	INTRINSIC
Pfam:Cation_ATPase	685	791	1.5e-7	PFAM
Pfam:HAD	697	1054	2.1e-12	PFAM
Pfam:PhoLip_ATPase_C	1071	1316	1.1e-76	PFAM
low complexity region	1458	1477	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207668
AA Change: L55Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

MGI Phenotype

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 p^23DFiOD 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

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	G	A	8: 105,282,123	Q421*	probably null	Het
Abca13	T	C	11: 9,277,974		probably null	Het
Adamts20	A	C	15: 94,353,584	S441A	probably damaging	Het
Aen	T	A	7: 78,907,301	M299K	probably damaging	Het
Akap3	T	C	6: 126,865,833	S472P	probably benign	Het
Ank3	T	G	10: 69,822,257	V158G	probably damaging	Het
Arfgap1	A	G	2: 180,981,162	D324G	probably benign	Het
Aste1	A	T	9: 105,403,415	R448S	probably benign	Het
C1qtnf9	G	A	14: 60,779,450	G143D	probably damaging	Het
Camsap2	A	G	1: 136,280,388	V1122A	probably benign	Het
Cbl	T	C	9: 44,233,779	H37R	probably damaging	Het
Cfap61	A	C	2: 146,129,149	D893A	probably benign	Het
Chd2	T	A	7: 73,478,715	I841F	probably damaging	Het
Chd9	A	G	8: 90,997,164	T622A	probably damaging	Het
Cntnap3	A	G	13: 64,748,577	Y1028H	probably benign	Het
Crybg2	A	G	4: 134,074,123	T865A	probably benign	Het
Cyp2c55	A	G	19: 39,042,067	I448V	probably benign	Het
Cyth1	T	A	11: 118,192,463		probably null	Het
Dcaf13	C	T	15: 39,143,642	R324*	probably null	Het
Dhx37	C	A	5: 125,425,730	R42L	probably damaging	Het
Dock1	T	A	7: 134,763,933	V450E	probably damaging	Het
Ednrb	A	G	14: 103,820,877	L330P	probably damaging	Het
Eml4	T	A	17: 83,477,741	H778Q	probably damaging	Het
Evx1	T	A	6: 52,315,990	I227N	probably damaging	Het
G3bp1	T	A	11: 55,497,940	V326E	probably benign	Het
Gata2	T	C	6: 88,200,747	V253A	probably benign	Het
Gbp2	A	G	3: 142,633,377	N397D	probably damaging	Het
Gm14401	C	A	2: 177,086,903	H261N	probably benign	Het
Hacd4	A	T	4: 88,398,152	H243Q	probably benign	Het
Hsd3b1	C	A	3: 98,852,939	K245N	possibly damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ift27	A	T	15: 78,165,243	C86S	probably damaging	Het
Iqgap2	C	T	13: 95,675,372	R707H	probably damaging	Het
Irs3	T	A	5: 137,644,559	S206C	probably damaging	Het
Lefty2	C	T	1: 180,893,151		probably benign	Het
Mark3	A	G	12: 111,624,487	I162V	probably damaging	Het
Mefv	A	C	16: 3,716,046	D120E	probably damaging	Het
Mep1a	G	A	17: 43,478,164	H574Y	probably benign	Het
Mre11a	A	G	9: 14,799,657	I45V	probably benign	Het
Mtor	A	G	4: 148,536,536	N1797S	possibly damaging	Het
Nav1	A	C	1: 135,532,406	M393R	probably benign	Het
Nod2	T	C	8: 88,664,639	S510P	possibly damaging	Het
Nos2	C	T	11: 78,928,579	T39I	probably benign	Het
Olfr474	T	A	7: 107,954,906	H88Q	probably benign	Het
Olfr93	A	T	17: 37,151,799	Y58N	probably damaging	Het
Pcdh7	A	G	5: 57,721,628	S842G	possibly damaging	Het
Pcdha11	T	C	18: 37,012,623	V589A	probably damaging	Het
Plaa	A	C	4: 94,583,469	V10G	probably damaging	Het
Pprc1	T	A	19: 46,065,220		probably benign	Het
Ptprt	T	C	2: 161,560,269	Y994C	probably damaging	Het
Ripply2	T	A	9: 87,015,890	W37R	probably damaging	Het
Rpgrip1	A	G	14: 52,158,382	D1227G	probably damaging	Het
Scoc	C	T	8: 83,437,631	D10N	possibly damaging	Het
Sdk2	A	T	11: 113,854,273	I732N	probably damaging	Het
Six2	T	C	17: 85,687,664	K97E	probably damaging	Het
Slit2	A	C	5: 48,259,647	N1014H	probably damaging	Het
Smc1b	A	C	15: 85,089,665	L930R	probably damaging	Het
Spag16	T	A	1: 69,923,714	M340K	probably benign	Het
Spata31	C	T	13: 64,922,666	S876L	probably benign	Het
Spen	A	G	4: 141,471,843	Y3135H	possibly damaging	Het
Spta1	A	T	1: 174,184,797		probably null	Het
Stk3	G	A	15: 34,959,018	T336I	probably damaging	Het
Tas2r118	T	A	6: 23,969,877	T62S	probably benign	Het
Tmprss11d	A	G	5: 86,306,310	M212T	probably damaging	Het
Trpc7	A	G	13: 56,776,158	L738P	probably damaging	Het
Ttll8	A	G	15: 88,917,246	V413A	possibly damaging	Het
Usb1	G	A	8: 95,333,533		probably benign	Het
Vmn1r238	T	C	18: 3,123,168	E82G	probably benign	Het
Vmn2r114	T	C	17: 23,310,625	T168A	possibly damaging	Het
Vmn2r60	C	A	7: 42,116,508	P13H	probably benign	Het
Wdr26	A	G	1: 181,203,147	L194P	probably damaging	Het
Zfhx2	G	A	14: 55,073,330	Q636*	probably null	Het
Zfyve26	A	G	12: 79,266,537	Y25H	probably benign	Het

Other mutations in Atp10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00649:Atp10a	APN	7	58794482	missense	probably benign	0.06
IGL00973:Atp10a	APN	7	58807470	missense	probably damaging	1.00
IGL00984:Atp10a	APN	7	58658741	missense	probably damaging	1.00
IGL01086:Atp10a	APN	7	58824318	missense	probably damaging	0.96
IGL01296:Atp10a	APN	7	58813625	missense	probably benign	0.02
IGL01731:Atp10a	APN	7	58797562	missense	probably benign	0.16
IGL02081:Atp10a	APN	7	58827856	missense	possibly damaging	0.62
IGL02095:Atp10a	APN	7	58807393	missense	probably damaging	1.00
IGL02549:Atp10a	APN	7	58819733	missense	probably benign	0.00
IGL02558:Atp10a	APN	7	58819642	missense	probably damaging	0.98
IGL02659:Atp10a	APN	7	58813631	missense	probably benign
IGL02986:Atp10a	APN	7	58828721	missense	probably benign
IGL03218:Atp10a	APN	7	58788448	critical splice donor site	probably null
PIT4260001:Atp10a	UTSW	7	58791118	nonsense	probably null
PIT4445001:Atp10a	UTSW	7	58803467	missense	probably damaging	0.98
PIT4810001:Atp10a	UTSW	7	58813848	missense	probably damaging	0.99
R0091:Atp10a	UTSW	7	58774046	splice site	probably benign
R0349:Atp10a	UTSW	7	58803467	missense	probably damaging	0.98
R0426:Atp10a	UTSW	7	58784734	missense	probably benign	0.00
R0609:Atp10a	UTSW	7	58819740	splice site	probably null
R0722:Atp10a	UTSW	7	58816183	missense	possibly damaging	0.75
R0741:Atp10a	UTSW	7	58828589	missense	possibly damaging	0.90
R1172:Atp10a	UTSW	7	58803766	missense	probably benign	0.05
R1342:Atp10a	UTSW	7	58816146	splice site	probably benign
R1648:Atp10a	UTSW	7	58784827	missense	probably damaging	1.00
R1715:Atp10a	UTSW	7	58786505	missense	probably damaging	0.98
R1737:Atp10a	UTSW	7	58827238	splice site	probably benign
R1799:Atp10a	UTSW	7	58824434	missense	probably damaging	1.00
R1909:Atp10a	UTSW	7	58828712	missense	probably benign	0.12
R1918:Atp10a	UTSW	7	58827935	missense	possibly damaging	0.82
R2031:Atp10a	UTSW	7	58827930	nonsense	probably null
R2080:Atp10a	UTSW	7	58824327	missense	probably damaging	0.97
R2424:Atp10a	UTSW	7	58794555	missense	probably benign	0.16
R2696:Atp10a	UTSW	7	58813618	missense	probably benign	0.00
R3932:Atp10a	UTSW	7	58827104	missense	possibly damaging	0.69
R4198:Atp10a	UTSW	7	58813686	missense	probably damaging	1.00
R4453:Atp10a	UTSW	7	58658500	small deletion	probably benign
R4632:Atp10a	UTSW	7	58807438	missense	possibly damaging	0.48
R4661:Atp10a	UTSW	7	58658500	small deletion	probably benign
R4782:Atp10a	UTSW	7	58791095	missense	probably benign
R4888:Atp10a	UTSW	7	58785307	missense	probably damaging	1.00
R4935:Atp10a	UTSW	7	58813764	missense	probably damaging	1.00
R5051:Atp10a	UTSW	7	58740246	frame shift	probably null
R5213:Atp10a	UTSW	7	58773983	missense	probably damaging	0.99
R5617:Atp10a	UTSW	7	58803675	missense	probably benign	0.06
R5885:Atp10a	UTSW	7	58813800	missense	possibly damaging	0.92
R6013:Atp10a	UTSW	7	58797790	missense	probably benign	0.05
R6136:Atp10a	UTSW	7	58828340	missense	probably benign
R6269:Atp10a	UTSW	7	58803739	missense	possibly damaging	0.51
R6380:Atp10a	UTSW	7	58819684	nonsense	probably null
R6743:Atp10a	UTSW	7	58797814	missense	possibly damaging	0.89
R6875:Atp10a	UTSW	7	58797352	missense	probably benign	0.01
R6975:Atp10a	UTSW	7	58773985	missense	probably damaging	1.00
R7082:Atp10a	UTSW	7	58658819	missense	probably damaging	1.00
R7203:Atp10a	UTSW	7	58786473	missense	probably benign
R7224:Atp10a	UTSW	7	58797471	missense	probably benign	0.00
R7287:Atp10a	UTSW	7	58827269	missense	probably damaging	1.00
R7437:Atp10a	UTSW	7	58658540	missense	unknown
R7474:Atp10a	UTSW	7	58658527	missense	unknown
R7530:Atp10a	UTSW	7	58773976	missense	probably benign	0.02
R7561:Atp10a	UTSW	7	58827133	missense	probably damaging	0.98
R7743:Atp10a	UTSW	7	58803709	missense	probably damaging	1.00
R7767:Atp10a	UTSW	7	58658849	missense	probably damaging	1.00
R7861:Atp10a	UTSW	7	58788359	missense	probably damaging	1.00
R7903:Atp10a	UTSW	7	58658822	missense	probably damaging	1.00
R7944:Atp10a	UTSW	7	58788359	missense	probably damaging	1.00
R7986:Atp10a	UTSW	7	58658822	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGATCACCTAGGAGGCTGG -3'
(R):5'- CAGGTCTTTGATGGCTGTGACC -3'

Sequencing Primer
(F):5'- TAGGAGGCTGGCGCGAG -3'
(R):5'- CTGTGACCGCCAGAATGAAG -3'

Posted On

2016-12-20