Mutagenetix > Incidental Mutation

Incidental Mutation 'R5051:Atp10a'

394648

Institutional Source

Beutler Lab

Gene Symbol

Atp10a

Ensembl Gene

ENSMUSG00000025324

Gene Name

ATPase, class V, type 10A

Synonyms

pfatp, Atp10c

MMRRC Submission

042641-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5051 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

58305914-58479168 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGTCCGTC to TGTC at 58389994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129811 (fasta)

Gene Model

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

AlphaFold

O54827

Predicted Effect

probably null
Transcript: ENSMUST00000168747

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324

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

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

Validation Efficiency

98% (62/63)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	G	A	11: 25,718,990 (GRCm39)	T51I	unknown	Het
Alms1	C	T	6: 85,604,916 (GRCm39)	Q2189*	probably null	Het
Ank1	A	T	8: 23,609,397 (GRCm39)	D1363V	probably damaging	Het
Ap3d1	T	G	10: 80,555,033 (GRCm39)	T431P	probably damaging	Het
Arnt	A	G	3: 95,377,648 (GRCm39)	T125A	probably benign	Het
Bscl2	A	T	19: 8,822,643 (GRCm39)	R195*	probably null	Het
Ccdc146	C	T	5: 21,508,081 (GRCm39)	V656I	possibly damaging	Het
Ccn6	A	G	10: 39,031,152 (GRCm39)	F124L	probably benign	Het
Ccr4	T	C	9: 114,321,714 (GRCm39)	Y117C	probably damaging	Het
Cd55	T	A	1: 130,376,085 (GRCm39)	D355V	probably damaging	Het
Cntn6	T	A	6: 104,749,558 (GRCm39)	I259N	probably damaging	Het
Cspg4	A	G	9: 56,793,020 (GRCm39)	I252V	possibly damaging	Het
Dmbt1	T	C	7: 130,696,472 (GRCm39)	V895A	probably benign	Het
Ect2	A	G	3: 27,156,635 (GRCm39)	V775A	probably benign	Het
Gm14486	T	C	2: 30,548,889 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,756,393 (GRCm39)	N444S	possibly damaging	Het
Heatr5b	T	C	17: 79,102,703 (GRCm39)	D1225G	probably damaging	Het
Il1rl2	G	A	1: 40,382,254 (GRCm39)	V189I	probably benign	Het
Kif1a	G	A	1: 93,003,876 (GRCm39)		probably null	Het
Ltbr	T	A	6: 125,289,733 (GRCm39)	T154S	probably damaging	Het
Mrgpra6	C	T	7: 46,835,690 (GRCm39)	V244I	probably benign	Het
Myo15a	G	A	11: 60,378,251 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,204,106 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,268,913 (GRCm39)	N496K	possibly damaging	Het
Nkd2	A	G	13: 73,973,195 (GRCm39)	V147A	probably benign	Het
Nlrp3	G	C	11: 59,457,025 (GRCm39)	R1013P	probably benign	Het
Or4d11	C	A	19: 12,013,288 (GRCm39)	V273F	possibly damaging	Het
Or4k36	T	A	2: 111,146,599 (GRCm39)	Y258*	probably null	Het
Pdk2	T	C	11: 94,919,598 (GRCm39)	S263G	probably benign	Het
Pla2g4e	T	A	2: 120,004,785 (GRCm39)	I520F	probably damaging	Het
Plat	A	G	8: 23,263,688 (GRCm39)	T196A	probably benign	Het
Podn	T	A	4: 107,872,043 (GRCm39)	D400V	probably benign	Het
Poteg	T	C	8: 27,943,357 (GRCm39)	V147A	possibly damaging	Het
Prkar2a	A	G	9: 108,622,690 (GRCm39)	N315D	probably benign	Het
Rac2	A	G	15: 78,449,134 (GRCm39)	I13T	possibly damaging	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Relch	T	A	1: 105,619,711 (GRCm39)	N313K	possibly damaging	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Supv3l1	A	C	10: 62,279,196 (GRCm39)	I240S	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Tead4	A	C	6: 128,271,262 (GRCm39)		probably benign	Het
Tex10	G	A	4: 48,460,019 (GRCm39)	A444V	possibly damaging	Het
Tgds	A	T	14: 118,365,639 (GRCm39)	I73K	probably damaging	Het
Tmem117	C	A	15: 94,612,794 (GRCm39)	T110K	probably damaging	Het
Trim30a	T	A	7: 104,060,913 (GRCm39)		probably benign	Het
Unc80	C	T	1: 66,548,636 (GRCm39)	T636I	probably damaging	Het
Ybey	G	A	10: 76,304,173 (GRCm39)	R10W	probably damaging	Het
Zap70	A	G	1: 36,820,532 (GRCm39)	I576V	probably benign	Het
Zfp64	T	C	2: 168,768,304 (GRCm39)	D436G	probably damaging	Het

Other mutations in Atp10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00649:Atp10a	APN	7	58,444,230 (GRCm39)	missense	probably benign	0.06
IGL00973:Atp10a	APN	7	58,457,218 (GRCm39)	missense	probably damaging	1.00
IGL00984:Atp10a	APN	7	58,308,489 (GRCm39)	missense	probably damaging	1.00
IGL01086:Atp10a	APN	7	58,474,066 (GRCm39)	missense	probably damaging	0.96
IGL01296:Atp10a	APN	7	58,463,373 (GRCm39)	missense	probably benign	0.02
IGL01731:Atp10a	APN	7	58,447,310 (GRCm39)	missense	probably benign	0.16
IGL02081:Atp10a	APN	7	58,477,604 (GRCm39)	missense	possibly damaging	0.62
IGL02095:Atp10a	APN	7	58,457,141 (GRCm39)	missense	probably damaging	1.00
IGL02549:Atp10a	APN	7	58,469,481 (GRCm39)	missense	probably benign	0.00
IGL02558:Atp10a	APN	7	58,469,390 (GRCm39)	missense	probably damaging	0.98
IGL02659:Atp10a	APN	7	58,463,379 (GRCm39)	missense	probably benign
IGL02986:Atp10a	APN	7	58,478,469 (GRCm39)	missense	probably benign
IGL03218:Atp10a	APN	7	58,438,196 (GRCm39)	critical splice donor site	probably null
PIT4260001:Atp10a	UTSW	7	58,440,866 (GRCm39)	nonsense	probably null
PIT4445001:Atp10a	UTSW	7	58,453,215 (GRCm39)	missense	probably damaging	0.98
PIT4810001:Atp10a	UTSW	7	58,463,596 (GRCm39)	missense	probably damaging	0.99
R0091:Atp10a	UTSW	7	58,423,794 (GRCm39)	splice site	probably benign
R0349:Atp10a	UTSW	7	58,453,215 (GRCm39)	missense	probably damaging	0.98
R0426:Atp10a	UTSW	7	58,434,482 (GRCm39)	missense	probably benign	0.00
R0609:Atp10a	UTSW	7	58,469,488 (GRCm39)	splice site	probably null
R0722:Atp10a	UTSW	7	58,465,931 (GRCm39)	missense	possibly damaging	0.75
R0741:Atp10a	UTSW	7	58,478,337 (GRCm39)	missense	possibly damaging	0.90
R1172:Atp10a	UTSW	7	58,453,514 (GRCm39)	missense	probably benign	0.05
R1342:Atp10a	UTSW	7	58,465,894 (GRCm39)	splice site	probably benign
R1648:Atp10a	UTSW	7	58,434,575 (GRCm39)	missense	probably damaging	1.00
R1715:Atp10a	UTSW	7	58,436,253 (GRCm39)	missense	probably damaging	0.98
R1737:Atp10a	UTSW	7	58,476,986 (GRCm39)	splice site	probably benign
R1799:Atp10a	UTSW	7	58,474,182 (GRCm39)	missense	probably damaging	1.00
R1909:Atp10a	UTSW	7	58,478,460 (GRCm39)	missense	probably benign	0.12
R1918:Atp10a	UTSW	7	58,477,683 (GRCm39)	missense	possibly damaging	0.82
R2031:Atp10a	UTSW	7	58,477,678 (GRCm39)	nonsense	probably null
R2080:Atp10a	UTSW	7	58,474,075 (GRCm39)	missense	probably damaging	0.97
R2424:Atp10a	UTSW	7	58,444,303 (GRCm39)	missense	probably benign	0.16
R2696:Atp10a	UTSW	7	58,463,366 (GRCm39)	missense	probably benign	0.00
R3932:Atp10a	UTSW	7	58,476,852 (GRCm39)	missense	possibly damaging	0.69
R4198:Atp10a	UTSW	7	58,463,434 (GRCm39)	missense	probably damaging	1.00
R4453:Atp10a	UTSW	7	58,308,248 (GRCm39)	small deletion	probably benign
R4632:Atp10a	UTSW	7	58,457,186 (GRCm39)	missense	possibly damaging	0.48
R4661:Atp10a	UTSW	7	58,308,248 (GRCm39)	small deletion	probably benign
R4782:Atp10a	UTSW	7	58,440,843 (GRCm39)	missense	probably benign
R4888:Atp10a	UTSW	7	58,435,055 (GRCm39)	missense	probably damaging	1.00
R4935:Atp10a	UTSW	7	58,463,512 (GRCm39)	missense	probably damaging	1.00
R5213:Atp10a	UTSW	7	58,423,731 (GRCm39)	missense	probably damaging	0.99
R5617:Atp10a	UTSW	7	58,453,423 (GRCm39)	missense	probably benign	0.06
R5834:Atp10a	UTSW	7	58,308,366 (GRCm39)	missense	probably benign	0.01
R5885:Atp10a	UTSW	7	58,463,548 (GRCm39)	missense	possibly damaging	0.92
R6013:Atp10a	UTSW	7	58,447,538 (GRCm39)	missense	probably benign	0.05
R6136:Atp10a	UTSW	7	58,478,088 (GRCm39)	missense	probably benign
R6269:Atp10a	UTSW	7	58,453,487 (GRCm39)	missense	possibly damaging	0.51
R6380:Atp10a	UTSW	7	58,469,432 (GRCm39)	nonsense	probably null
R6743:Atp10a	UTSW	7	58,447,562 (GRCm39)	missense	possibly damaging	0.89
R6875:Atp10a	UTSW	7	58,447,100 (GRCm39)	missense	probably benign	0.01
R6975:Atp10a	UTSW	7	58,423,733 (GRCm39)	missense	probably damaging	1.00
R7082:Atp10a	UTSW	7	58,308,567 (GRCm39)	missense	probably damaging	1.00
R7203:Atp10a	UTSW	7	58,436,221 (GRCm39)	missense	probably benign
R7224:Atp10a	UTSW	7	58,447,219 (GRCm39)	missense	probably benign	0.00
R7287:Atp10a	UTSW	7	58,477,017 (GRCm39)	missense	probably damaging	1.00
R7437:Atp10a	UTSW	7	58,308,288 (GRCm39)	missense	unknown
R7474:Atp10a	UTSW	7	58,308,275 (GRCm39)	missense	unknown
R7530:Atp10a	UTSW	7	58,423,724 (GRCm39)	missense	probably benign	0.02
R7561:Atp10a	UTSW	7	58,476,881 (GRCm39)	missense	probably damaging	0.98
R7743:Atp10a	UTSW	7	58,453,457 (GRCm39)	missense	probably damaging	1.00
R7767:Atp10a	UTSW	7	58,308,597 (GRCm39)	missense	probably damaging	1.00
R7861:Atp10a	UTSW	7	58,438,107 (GRCm39)	missense	probably damaging	1.00
R7903:Atp10a	UTSW	7	58,308,570 (GRCm39)	missense	probably damaging	1.00
R8015:Atp10a	UTSW	7	58,453,245 (GRCm39)	missense	probably benign	0.00
R8166:Atp10a	UTSW	7	58,457,270 (GRCm39)	missense	possibly damaging	0.46
R8201:Atp10a	UTSW	7	58,469,424 (GRCm39)	nonsense	probably null
R8465:Atp10a	UTSW	7	58,478,058 (GRCm39)	missense	probably benign	0.32
R8858:Atp10a	UTSW	7	58,465,971 (GRCm39)	missense	probably damaging	1.00
R8985:Atp10a	UTSW	7	58,438,092 (GRCm39)	missense	probably benign	0.03
R9003:Atp10a	UTSW	7	58,457,203 (GRCm39)	missense	probably damaging	1.00
R9274:Atp10a	UTSW	7	58,478,369 (GRCm39)	missense	probably benign	0.22
R9385:Atp10a	UTSW	7	58,477,887 (GRCm39)	missense	probably benign	0.00
R9432:Atp10a	UTSW	7	58,469,418 (GRCm39)	missense	possibly damaging	0.95
R9454:Atp10a	UTSW	7	58,308,339 (GRCm39)	missense	probably benign
R9596:Atp10a	UTSW	7	58,477,553 (GRCm39)	missense	probably damaging	1.00
R9736:Atp10a	UTSW	7	58,474,078 (GRCm39)	missense	probably damaging	1.00
Z1176:Atp10a	UTSW	7	58,438,195 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTGATGCACAGTTATAGCTTTCATC -3'
(R):5'- CTGTGGTGCTCTGAGAATGC -3'

Sequencing Primer
(F):5'- CTCAAGTACTCATTGGCCA -3'
(R):5'- TGCTCTGAGAATGCAGACC -3'

Posted On

2016-06-15