Mutagenetix > Incidental Mutation

Incidental Mutation 'R8858:Atp10a'

675463

Institutional Source

Beutler Lab

Gene Symbol

Atp10a

Ensembl Gene

ENSMUSG00000025324

Gene Name

ATPase, class V, type 10A

Synonyms

pfatp, Atp10c

MMRRC Submission

068738-MU

Accession Numbers

Essential gene?

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

Stock #

R8858 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58305914-58479168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58465971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1066 (E1066G)

Ref Sequence

ENSEMBL: ENSMUSP00000129811 (fasta)

Gene Model

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

AlphaFold

O54827

Predicted Effect

probably damaging
Transcript: ENSMUST00000168747
AA Change: E1066G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: E1066G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (47/47)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,638,338 (GRCm39)	Q91R	probably benign	Het
Abca16	G	T	7: 120,052,327 (GRCm39)	C465F	probably benign	Het
Amfr	A	G	8: 94,714,070 (GRCm39)	Y254H	probably damaging	Het
Arl6ip6	A	G	2: 53,093,018 (GRCm39)	E181G	probably damaging	Het
BC034090	A	G	1: 155,101,964 (GRCm39)	V100A	probably benign	Het
Cep126	T	C	9: 8,130,270 (GRCm39)	M54V	probably benign	Het
Ciao2a	T	C	9: 66,039,824 (GRCm39)	I47T	probably damaging	Het
Csmd1	A	G	8: 16,120,318 (GRCm39)	V1829A	probably benign	Het
Cyp2c54	G	A	19: 40,062,227 (GRCm39)	T10I	probably benign	Het
Dennd11	T	C	6: 40,399,669 (GRCm39)	N173S	probably benign	Het
Disc1	A	G	8: 125,977,781 (GRCm39)	Y799C	probably damaging	Het
Dnajc17	T	C	2: 119,011,445 (GRCm39)	T162A	probably benign	Het
Fhad1	T	C	4: 141,666,339 (GRCm39)	E695G	possibly damaging	Het
Gadl1	A	T	9: 115,835,669 (GRCm39)	S366C	probably damaging	Het
Gbp11	C	A	5: 105,473,392 (GRCm39)	E454*	probably null	Het
Gm32742	T	A	9: 51,062,256 (GRCm39)	T691S	probably benign	Het
Gsdma3	C	A	11: 98,520,695 (GRCm39)	Q109K	probably benign	Het
Hsph1	A	T	5: 149,548,576 (GRCm39)	V482E	probably damaging	Het
Ighv1-23	T	A	12: 114,728,083 (GRCm39)	Y113F	probably benign	Het
Lactb	G	T	9: 66,863,182 (GRCm39)	Y477*	probably null	Het
Lgr6	T	C	1: 134,923,849 (GRCm39)		probably null	Het
Lrp1b	T	C	2: 41,560,827 (GRCm39)		probably benign	Het
Map3k4	A	C	17: 12,490,759 (GRCm39)	L224R	probably damaging	Het
Mex3d	A	T	10: 80,217,217 (GRCm39)	C667S	unknown	Het
Myh8	A	G	11: 67,192,820 (GRCm39)	E1537G	possibly damaging	Het
Myo5a	T	C	9: 75,091,965 (GRCm39)	S1205P	probably damaging	Het
Nfic	A	T	10: 81,262,965 (GRCm39)		probably benign	Het
Nrcam	T	A	12: 44,644,554 (GRCm39)		probably benign	Het
Or2aj6	A	G	16: 19,443,109 (GRCm39)	V247A	probably damaging	Het
Or4f54	G	A	2: 111,123,503 (GRCm39)	V297M	probably benign	Het
Orc2	A	T	1: 58,532,857 (GRCm39)	D127E	probably benign	Het
Ppp2r5c	T	A	12: 110,519,329 (GRCm39)		probably null	Het
Ptpn18	A	G	1: 34,502,196 (GRCm39)	T71A	possibly damaging	Het
Ptpru	T	C	4: 131,526,825 (GRCm39)		probably benign	Het
Ralgapa2	C	A	2: 146,102,285 (GRCm39)		probably null	Het
Rnase9	G	A	14: 51,276,766 (GRCm39)	P71S		Het
Ryr1	A	G	7: 28,808,638 (GRCm39)	L485P	probably benign	Het
Sardh	T	C	2: 27,118,302 (GRCm39)	D476G	probably null	Het
Sorbs3	T	C	14: 70,438,850 (GRCm39)	Y170C	probably damaging	Het
Spata31e4	T	C	13: 50,855,423 (GRCm39)	S354P	probably benign	Het
St8sia5	C	T	18: 77,320,511 (GRCm39)	P88S	probably benign	Het
Tmprss15	A	G	16: 78,854,497 (GRCm39)		probably null	Het
Tnfrsf13b	A	G	11: 61,038,363 (GRCm39)	I215M	possibly damaging	Het
Unc13d	G	T	11: 115,953,618 (GRCm39)	L1052M	probably damaging	Het
Vasn	A	G	16: 4,466,833 (GRCm39)	D260G	probably benign	Het
Wdr77	T	C	3: 105,868,978 (GRCm39)	V116A	probably damaging	Het
Zfp560	A	G	9: 20,260,403 (GRCm39)	I153T	probably benign	Het
Zfp672	G	A	11: 58,208,145 (GRCm39)	R59C	possibly 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
R5051:Atp10a	UTSW	7	58,389,994 (GRCm39)	frame shift	probably null
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
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'- TTTCCACAGAACTCAGTCCAG -3'
(R):5'- CCTCTTGGAGTCAGAGATTCCC -3'

Sequencing Primer
(F):5'- TCAGTCCAGCAGGAGACC -3'
(R):5'- TGGGTTTCCACACATGGC -3'

Posted On

2021-07-15