Mutagenetix > Incidental Mutation

Incidental Mutation 'R5885:Atp10a'

456040

Institutional Source

Beutler Lab

Gene Symbol

Atp10a

Ensembl Gene

ENSMUSG00000025324

Gene Name

ATPase, class V, type 10A

Synonyms

pfatp, Atp10c

MMRRC Submission

043237-MU

Accession Numbers

Essential gene?

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

Stock #

R5885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58305914-58479168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58463548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1027 (M1027K)

Ref Sequence

ENSEMBL: ENSMUSP00000129811 (fasta)

Gene Model

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

AlphaFold

O54827

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168747
AA Change: M1027K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: M1027K

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: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot10	T	A	15: 20,666,190 (GRCm39)	M184L	probably benign	Het
Adgrv1	A	T	13: 81,572,390 (GRCm39)	S4924T	probably benign	Het
Axl	T	A	7: 25,466,277 (GRCm39)	K510I	probably damaging	Het
Azi2	T	A	9: 117,876,628 (GRCm39)	I48N	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dnah3	T	C	7: 119,668,927 (GRCm39)	I720V	probably benign	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Epas1	A	G	17: 87,134,972 (GRCm39)	D535G	probably damaging	Het
Fam47e	A	G	5: 92,713,827 (GRCm39)	K152R	probably damaging	Het
Fbxl3	A	T	14: 103,320,667 (GRCm39)	I260K	probably benign	Het
Fcgr3	A	G	1: 170,885,280 (GRCm39)	V115A	probably damaging	Het
Fgf12	G	T	16: 28,217,046 (GRCm39)	D98E	possibly damaging	Het
Flt3	T	C	5: 147,286,439 (GRCm39)	T716A	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gpr141b	A	T	13: 19,913,519 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,579,769 (GRCm39)	Y165H	possibly damaging	Het
Ifna4	T	A	4: 88,760,599 (GRCm39)	W168R	probably damaging	Het
Itga11	A	G	9: 62,670,132 (GRCm39)	Y752C	probably damaging	Het
Khdrbs3	A	G	15: 68,896,547 (GRCm39)		probably null	Het
Kif24	A	T	4: 41,423,463 (GRCm39)	Y263N	probably damaging	Het
Lama5	G	T	2: 179,843,624 (GRCm39)	T441K	probably damaging	Het
Lrrc47	T	A	4: 154,100,429 (GRCm39)	V335D	possibly damaging	Het
Map1b	A	T	13: 99,566,589 (GRCm39)	I2044N	unknown	Het
Mast2	C	T	4: 116,172,035 (GRCm39)	G638S	probably damaging	Het
Myo9a	T	C	9: 59,778,503 (GRCm39)	S1420P	probably benign	Het
Neurl2	T	C	2: 164,674,811 (GRCm39)	T184A	probably damaging	Het
Nfatc3	A	G	8: 106,822,944 (GRCm39)	I577V	probably benign	Het
Nipal3	A	T	4: 135,199,288 (GRCm39)	V186E	probably damaging	Het
Pgbd5	G	A	8: 125,111,205 (GRCm39)	T162M	probably damaging	Het
Plod2	T	A	9: 92,488,709 (GRCm39)		probably null	Het
Psg22	T	A	7: 18,452,257 (GRCm39)	L19Q	probably damaging	Het
Psg27	T	A	7: 18,295,711 (GRCm39)	N245Y	probably damaging	Het
Ptprc	T	A	1: 138,016,246 (GRCm39)	I539F	probably damaging	Het
Rad1	T	C	15: 10,488,143 (GRCm39)	L59P	probably damaging	Het
Slc2a9	G	A	5: 38,598,017 (GRCm39)	R137W	probably damaging	Het
Spats2l	C	T	1: 57,985,321 (GRCm39)	A458V	probably damaging	Het
Sptbn5	A	G	2: 119,907,144 (GRCm39)		probably benign	Het
Stox1	C	A	10: 62,500,627 (GRCm39)	L644F	probably damaging	Het
Sv2b	C	T	7: 74,806,501 (GRCm39)	G213E	probably damaging	Het
Tas2r121	T	G	6: 132,677,254 (GRCm39)	L239F	probably damaging	Het
Trrap	T	A	5: 144,731,603 (GRCm39)	V854E	probably damaging	Het
Vmn2r97	A	G	17: 19,168,035 (GRCm39)	Y763C	possibly damaging	Het
Xkr6	T	A	14: 63,844,360 (GRCm39)	W128R	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
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'- TGTGCAATCCAGAAACCCTAG -3'
(R):5'- ACAGGTGAACCGGCTTTTC -3'

Sequencing Primer
(F):5'- CTCTGAAAGCAACTTGAGTGTG -3'
(R):5'- GTGAACCGGCTTTTCTTACTTCATAG -3'

Posted On

2017-02-15