Mutagenetix > Incidental Mutation

Incidental Mutation 'R6975:Atp10a'

542417

Institutional Source

Beutler Lab

Gene Symbol

Atp10a

Ensembl Gene

ENSMUSG00000025324

Gene Name

ATPase, class V, type 10A

Synonyms

pfatp, Atp10c

MMRRC Submission

045085-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R6975 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58305914-58479168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58423733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 233 (S233C)

Ref Sequence

ENSEMBL: ENSMUSP00000129811 (fasta)

Gene Model

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

AlphaFold

O54827

Predicted Effect

probably damaging
Transcript: ENSMUST00000168747
AA Change: S233C

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

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: S233C

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: 99.2%
20x: 96.9%

Validation Efficiency

100% (46/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,687 (GRCm39)	H100L	probably benign	Het
Apaf1	A	T	10: 90,856,596 (GRCm39)	H870Q	probably damaging	Het
Aplf	T	C	6: 87,623,068 (GRCm39)	D358G	probably damaging	Het
Ccdc158	A	T	5: 92,814,579 (GRCm39)	Y82*	probably null	Het
Clba1	C	T	12: 112,773,217 (GRCm39)	P70L	possibly damaging	Het
Cubn	T	C	2: 13,491,600 (GRCm39)	D149G	probably damaging	Het
Cyp4f14	T	C	17: 33,133,608 (GRCm39)	T83A	probably benign	Het
Endog	A	G	2: 30,061,648 (GRCm39)		probably benign	Het
Extl3	T	C	14: 65,304,246 (GRCm39)	E721G	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcn1	A	G	5: 115,751,518 (GRCm39)	H2033R	probably damaging	Het
Gm12830	T	C	4: 114,702,246 (GRCm39)	M136T		Het
Gm6871	T	C	7: 41,196,202 (GRCm39)		silent	Het
Hoxc4	T	C	15: 102,944,098 (GRCm39)	S159P	probably damaging	Het
Ift70a2	T	C	2: 75,806,752 (GRCm39)	R587G	probably damaging	Het
Ift70a2	A	T	2: 75,808,004 (GRCm39)	Y169*	probably null	Het
Igf2bp2	T	A	16: 21,880,611 (GRCm39)	Q494L	probably null	Het
Igfn1	T	A	1: 135,896,183 (GRCm39)	N1461I	probably damaging	Het
Il23r	C	A	6: 67,400,352 (GRCm39)	K659N	probably damaging	Het
Map3k11	A	G	19: 5,740,755 (GRCm39)	S161G	possibly damaging	Het
Naip6	T	A	13: 100,452,773 (GRCm39)	Q96L	probably damaging	Het
Nup133	T	C	8: 124,642,057 (GRCm39)	E802G	probably damaging	Het
Nutm1	G	A	2: 112,086,563 (GRCm39)	S56F	probably damaging	Het
Or10x4	T	A	1: 174,219,243 (GRCm39)	S203T	probably benign	Het
Or51a24	T	C	7: 103,734,002 (GRCm39)	N95S	probably benign	Het
Otop2	A	T	11: 115,220,152 (GRCm39)	S331C	possibly damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Pkd1l3	A	G	8: 110,387,539 (GRCm39)	R1818G	possibly damaging	Het
Pms1	A	T	1: 53,228,590 (GRCm39)	I886N	probably damaging	Het
Pnpla6	A	G	8: 3,588,068 (GRCm39)	Y1107C	probably damaging	Het
Ppp3ca	A	G	3: 136,611,062 (GRCm39)	T362A	probably damaging	Het
Rarb	A	G	14: 16,574,942 (GRCm38)	S25P	possibly damaging	Het
Rnf121	A	T	7: 101,673,218 (GRCm39)		probably null	Het
Sae1	T	C	7: 16,070,712 (GRCm39)	Y266C	probably damaging	Het
Scpep1	A	T	11: 88,838,031 (GRCm39)	F85L	probably damaging	Het
Shank1	T	A	7: 43,962,530 (GRCm39)		probably null	Het
Slc40a1	T	C	1: 45,948,652 (GRCm39)	K543E	probably benign	Het
Slc9a9	A	G	9: 94,842,499 (GRCm39)	Y350C	probably damaging	Het
Sun2	G	T	15: 79,618,420 (GRCm39)	Y246*	probably null	Het
Tas1r2	T	A	4: 139,397,031 (GRCm39)	I790N	probably damaging	Het
Tmtc2	T	C	10: 105,158,863 (GRCm39)	T577A	probably benign	Het
Trim24	T	G	6: 37,896,427 (GRCm39)		probably null	Het
Ttc12	A	G	9: 49,349,718 (GRCm39)	V693A	probably benign	Het
Zbtb22	A	C	17: 34,136,938 (GRCm39)	D361A	probably damaging	Het
Zfp276	T	A	8: 123,983,570 (GRCm39)	C324*	probably null	Het
Zfp536	A	G	7: 37,267,952 (GRCm39)	L488P	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
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
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'- TCACTATCCACAAGTCTGTTCATAG -3'
(R):5'- TTGACAAGCTCCCACTGCTG -3'

Sequencing Primer
(F):5'- TCCACAAGTCTGTTCATAGTTAAAAC -3'
(R):5'- CTGCTGACAGGATCTTACAAATTAC -3'

Posted On

2018-11-28