Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Atp10a'

73107

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp10a

Ensembl Gene

ENSMUSG00000025324

Gene Name

ATPase, class V, type 10A

Synonyms

pfatp, Atp10c

Accession Numbers

Essential gene?

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

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

58305914-58479168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58463373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 969 (F969I)

Ref Sequence

ENSEMBL: ENSMUSP00000129811 (fasta)

Gene Model

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

AlphaFold

O54827

Predicted Effect

probably benign
Transcript: ENSMUST00000168747
AA Change: F969I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: F969I

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,880,864 (GRCm39)	S301P	probably damaging	Het
Adam34	A	G	8: 44,104,178 (GRCm39)	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,655,628 (GRCm39)	T617I	probably damaging	Het
Aggf1	T	C	13: 95,490,479 (GRCm39)	D605G	probably damaging	Het
Becn1	A	T	11: 101,182,277 (GRCm39)	N97K	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Crtac1	A	T	19: 42,272,652 (GRCm39)	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,192,319 (GRCm39)	K412E	probably damaging	Het
Dlg2	T	A	7: 91,589,267 (GRCm39)	I327N	probably damaging	Het
Ehf	T	A	2: 103,098,500 (GRCm39)		probably null	Het
Elavl4	T	C	4: 110,063,809 (GRCm39)	N264S	probably benign	Het
Enpp2	A	T	15: 54,739,065 (GRCm39)	I406N	probably damaging	Het
F10	A	T	8: 13,105,383 (GRCm39)	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,576,177 (GRCm39)	I194T	possibly damaging	Het
Fcgbp	T	C	7: 27,789,072 (GRCm39)	V546A	probably benign	Het
Fras1	A	T	5: 96,821,557 (GRCm39)	Q1438L	probably null	Het
Gm43638	T	C	5: 87,608,451 (GRCm39)	I463V	probably benign	Het
H2-T10	T	C	17: 36,431,602 (GRCm39)	D84G	probably benign	Het
Itpr1	T	C	6: 108,376,322 (GRCm39)	F1262L	probably damaging	Het
Lama1	A	G	17: 68,052,046 (GRCm39)	N335D	probably benign	Het
Lasp1	T	C	11: 97,727,016 (GRCm39)	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,567,345 (GRCm39)	I135L	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mctp2	T	C	7: 71,878,274 (GRCm39)	K268R	probably benign	Het
Nbea	A	T	3: 55,938,957 (GRCm39)	H710Q	probably benign	Het
Notch3	G	A	17: 32,385,731 (GRCm39)	R13C	unknown	Het
Ogfod1	A	T	8: 94,782,299 (GRCm39)		probably benign	Het
Or1j11	A	G	2: 36,311,716 (GRCm39)	Y102C	probably benign	Het
Or5b111	A	G	19: 13,291,490 (GRCm39)	L53P	probably damaging	Het
Or8d2	T	C	9: 38,759,548 (GRCm39)	I46T	probably damaging	Het
Pgm3	A	G	9: 86,443,932 (GRCm39)	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,694,068 (GRCm39)	I681F	probably damaging	Het
Prss23	T	C	7: 89,159,095 (GRCm39)	K325E	possibly damaging	Het
Psmd7	T	A	8: 108,313,249 (GRCm39)		probably benign	Het
Rfx2	T	A	17: 57,115,317 (GRCm39)	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,203,141 (GRCm39)	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,505,875 (GRCm39)	R1029H	probably damaging	Het
Septin10	A	G	10: 59,002,422 (GRCm39)	V391A	probably benign	Het
Skint6	A	G	4: 113,093,637 (GRCm39)	F169L	probably benign	Het
Slc44a4	C	T	17: 35,140,674 (GRCm39)	T289I	probably benign	Het
Spata31e5	T	C	1: 28,816,137 (GRCm39)	I632V	probably benign	Het
Srl	T	C	16: 4,315,546 (GRCm39)	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,535,256 (GRCm39)		noncoding transcript	Het
Sult1b1	T	C	5: 87,662,815 (GRCm39)	D295G	probably benign	Het
Tmprss7	A	G	16: 45,504,937 (GRCm39)	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589 (GRCm39)	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,285,447 (GRCm39)	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,795,061 (GRCm39)	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690 (GRCm39)	H324R	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
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
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

Posted On

2013-10-07