Mutagenetix > Incidental Mutation

Incidental Mutation 'R8201:Atp10a'

635675

Institutional Source

Beutler Lab

Gene Symbol

Atp10a

Ensembl Gene

ENSMUSG00000025324

Gene Name

ATPase, class V, type 10A

Synonyms

pfatp, Atp10c

MMRRC Submission

067624-MU

Accession Numbers

Essential gene?

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

Stock #

R8201 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58305914-58479168 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 58469424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 1092 (G1092*)

Ref Sequence

ENSEMBL: ENSMUSP00000129811 (fasta)

Gene Model

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

AlphaFold

O54827

Predicted Effect

probably null
Transcript: ENSMUST00000168747
AA Change: G1092*

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: G1092*

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: 99.4%
20x: 97.9%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,195,046 (GRCm39)	E543G	probably benign	Het
2210408I21Rik	T	A	13: 77,341,278 (GRCm39)	N302K	possibly damaging	Het
Apbb2	T	C	5: 66,466,458 (GRCm39)	N609S	probably benign	Het
Ccdc150	A	G	1: 54,368,646 (GRCm39)	N618S	probably benign	Het
Cct4	T	A	11: 22,949,115 (GRCm39)	V287E	probably damaging	Het
Cyp2j7	A	T	4: 96,083,564 (GRCm39)	I462N	probably damaging	Het
Dnajc6	C	T	4: 101,475,960 (GRCm39)	A611V	probably benign	Het
Dusp10	C	A	1: 183,769,202 (GRCm39)	A56E	possibly damaging	Het
Entrep3	T	C	3: 89,093,115 (GRCm39)	V291A	probably damaging	Het
Fat3	A	C	9: 15,908,773 (GRCm39)	C2410G	possibly damaging	Het
Fcgrt	T	A	7: 44,744,634 (GRCm39)	Q274L	possibly damaging	Het
Fdxacb1	G	T	9: 50,681,455 (GRCm39)		probably benign	Het
Fubp1	T	A	3: 151,927,823 (GRCm39)	I424N	probably damaging	Het
Gm5114	T	A	7: 39,060,373 (GRCm39)	T159S	probably damaging	Het
Gm7168	T	C	17: 14,170,042 (GRCm39)	C470R	probably benign	Het
Hebp1	A	G	6: 135,114,906 (GRCm39)	V185A	possibly damaging	Het
Il18rap	G	T	1: 40,578,429 (GRCm39)	R280I	possibly damaging	Het
Mamdc4	T	C	2: 25,456,093 (GRCm39)	N771S	probably damaging	Het
Ndufaf4	A	G	4: 24,898,197 (GRCm39)	N11D	possibly damaging	Het
Nkiras1	T	C	14: 18,276,908 (GRCm38)		probably benign	Het
Noct	T	C	3: 51,155,444 (GRCm39)	S135P	probably benign	Het
Or1e23	T	A	11: 73,407,899 (GRCm39)	N42I	probably damaging	Het
Or2t48	A	T	11: 58,419,865 (GRCm39)	*316R	noncoding transcript	Het
Or2w3b	A	C	11: 58,623,940 (GRCm39)	F17C	probably damaging	Het
Or7e177	G	T	9: 20,212,317 (GRCm39)	G271C	probably damaging	Het
Or7e178	T	C	9: 20,225,908 (GRCm39)	M103V	probably benign	Het
Pcdhac1	A	T	18: 37,223,892 (GRCm39)	H235L	probably benign	Het
Pcdhb22	G	T	18: 37,651,518 (GRCm39)		probably benign	Het
Pdlim1	A	T	19: 40,218,958 (GRCm39)	D224E	probably benign	Het
Plpp3	G	T	4: 105,076,555 (GRCm39)	G223W	probably damaging	Het
Rcan3	A	G	4: 135,147,684 (GRCm39)	F81S	probably damaging	Het
Sel1l2	A	C	2: 140,108,312 (GRCm39)	Y191D	probably damaging	Het
Supt16	A	G	14: 52,408,447 (GRCm39)	F833L	probably damaging	Het
Tchh	T	C	3: 93,350,781 (GRCm39)	F74L	probably damaging	Het
Tgfbr3	T	C	5: 107,278,431 (GRCm39)	D725G	probably benign	Het
Tmem14c	C	T	13: 41,171,186 (GRCm39)	P10S	probably benign	Het
Ubb	G	A	11: 62,443,053 (GRCm39)	A28T	probably benign	Het
Vars2	A	T	17: 35,969,202 (GRCm39)	V833E	probably benign	Het
Zfyve9	T	C	4: 108,507,474 (GRCm39)	D528G	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
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'- GCCATTCATGAGCAACAGGG -3'
(R):5'- TACAAGGCAAGGCTAAGATCAC -3'

Sequencing Primer
(F):5'- AGCCACCCTTAGTAATGTGTTAGGC -3'
(R):5'- GGCAAGGCTAAGATCACAGACAAAC -3'

Posted On

2020-07-13