Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02095:Atp10a'

279598

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: 0.098) question?

Stock #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

58305914-58479168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58457141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 880 (D880G)

Ref Sequence

ENSEMBL: ENSMUSP00000129811 (fasta)

Gene Model

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

AlphaFold

O54827

Predicted Effect

probably damaging
Transcript: ENSMUST00000168747
AA Change: D880G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: D880G

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,583 (GRCm39)	Q794L	probably benign	Het
Acrbp	C	A	6: 125,030,919 (GRCm39)	Y313*	probably null	Het
Adam9	A	G	8: 25,486,745 (GRCm39)	S178P	probably benign	Het
Adgrv1	T	C	13: 81,727,909 (GRCm39)	I244V	possibly damaging	Het
Atad5	A	G	11: 79,985,533 (GRCm39)	S207G	probably benign	Het
Cadps2	A	G	6: 23,427,309 (GRCm39)	I573T	probably benign	Het
Camsap3	A	G	8: 3,653,845 (GRCm39)	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,232 (GRCm39)	E438G	probably damaging	Het
Cisd2	T	C	3: 135,116,980 (GRCm39)	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,699,157 (GRCm39)	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,761,856 (GRCm39)	G544D	possibly damaging	Het
Dok2	G	T	14: 71,015,301 (GRCm39)	G343W	possibly damaging	Het
Dscaml1	A	G	9: 45,359,001 (GRCm39)	N87D	probably damaging	Het
Ehf	T	C	2: 103,097,336 (GRCm39)	Y237C	probably damaging	Het
Exoc3	T	C	13: 74,328,655 (GRCm39)	T569A	probably damaging	Het
Fam151a	T	C	4: 106,605,072 (GRCm39)	V478A	probably damaging	Het
Fam227b	T	A	2: 125,942,924 (GRCm39)	H291L	probably damaging	Het
Fmn2	A	G	1: 174,330,167 (GRCm39)	T186A	unknown	Het
Ggnbp2	T	C	11: 84,723,954 (GRCm39)	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,444,637 (GRCm39)	M318I	probably benign	Het
Gprc5d	A	G	6: 135,093,175 (GRCm39)	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,123,613 (GRCm39)	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,920,892 (GRCm39)	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,557,224 (GRCm39)		probably benign	Het
Krt40	T	C	11: 99,432,497 (GRCm39)	D173G	probably damaging	Het
Lrrc27	C	T	7: 138,810,169 (GRCm39)	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,459,749 (GRCm39)	N125S	probably benign	Het
Mtor	C	T	4: 148,628,998 (GRCm39)	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,322,527 (GRCm39)	R866W	probably damaging	Het
Or10s1	T	A	9: 39,985,967 (GRCm39)	Y125*	probably null	Het
Or4d10b	C	A	19: 12,036,913 (GRCm39)	V68F	probably benign	Het
P2ry6	T	A	7: 100,588,071 (GRCm39)	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,710,605 (GRCm39)	S237T	probably benign	Het
Pck2	G	A	14: 55,779,967 (GRCm39)	R72Q	probably benign	Het
Pik3c2a	C	T	7: 115,945,423 (GRCm39)	R1461Q	probably damaging	Het
Polr3a	A	G	14: 24,504,678 (GRCm39)	V1130A	possibly damaging	Het
Ppm1d	T	A	11: 85,217,832 (GRCm39)	D198E	probably benign	Het
Rasa1	T	A	13: 85,364,274 (GRCm39)	E1022D	probably benign	Het
Rbm25	T	C	12: 83,718,748 (GRCm39)	Y507H	probably damaging	Het
Rbm26	A	T	14: 105,381,696 (GRCm39)	I488K	probably damaging	Het
Ryr2	T	A	13: 11,774,645 (GRCm39)	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,725,656 (GRCm39)	T1198P	probably damaging	Het
Sema3g	C	T	14: 30,949,781 (GRCm39)	T654I	probably benign	Het
Spag9	A	T	11: 93,999,408 (GRCm39)	H1108L	probably damaging	Het
Trgc2	T	A	13: 19,491,580 (GRCm39)		probably benign	Het
Ubap2	T	C	4: 41,229,709 (GRCm39)	N142S	probably benign	Het
Usp33	T	C	3: 152,087,431 (GRCm39)	F699L	possibly damaging	Het
Ythdc2	A	G	18: 45,006,207 (GRCm39)		probably benign	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
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

2015-04-16