Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4260001:Atp10a'

554501

Institutional Source

Beutler Lab

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 #

PIT4260001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58305914-58479168 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58440866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 504 (K504*)

Ref Sequence

ENSEMBL: ENSMUSP00000129811 (fasta)

Gene Model

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

AlphaFold

O54827

Predicted Effect

probably null
Transcript: ENSMUST00000168747
AA Change: K504*

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: K504*

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: 92.7%
3x: 90.5%
10x: 84.8%
20x: 72.5%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	A	T	18: 38,129,948 (GRCm39)	L71Q	probably benign	Het
AW551984	T	C	9: 39,504,275 (GRCm39)	T564A	probably benign	Het
Cep128	A	G	12: 91,265,808 (GRCm39)	V268A	probably benign	Het
Clgn	T	C	8: 84,149,753 (GRCm39)	M418T	probably damaging	Het
Col12a1	A	G	9: 79,558,662 (GRCm39)		probably null	Het
Col4a3	A	T	1: 82,660,482 (GRCm39)	E933D	unknown	Het
Csmd1	A	T	8: 16,120,327 (GRCm39)	L1826Q	probably damaging	Het
Enpp2	C	T	15: 54,707,774 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,841,037 (GRCm39)	R1832*	probably null	Het
Exoc5	T	C	14: 49,286,222 (GRCm39)	K135R	probably benign	Het
Fam83h	A	G	15: 75,873,746 (GRCm39)	F1197S	probably damaging	Het
Gabrg1	T	C	5: 70,939,623 (GRCm39)	I170V	probably benign	Het
Gigyf2	C	T	1: 87,346,828 (GRCm39)	R610C	unknown	Het
Gm16440	T	C	14: 17,575,339 (GRCm39)	E119G	probably benign	Het
Gm17669	A	G	18: 67,695,508 (GRCm39)	R18G	probably damaging	Het
Gxylt1	A	G	15: 93,159,708 (GRCm39)	S100P	probably damaging	Het
H3c10	C	A	13: 21,902,089 (GRCm39)	S87R	possibly damaging	Het
Hacd4	C	G	4: 88,316,342 (GRCm39)	R259T	unknown	Het
Hacd4	T	A	4: 88,316,343 (GRCm39)	R259*	probably null	Het
Hivep3	T	C	4: 119,956,379 (GRCm39)	L1565P	probably damaging	Het
Iqsec1	T	A	6: 90,667,471 (GRCm39)	D218V	probably damaging	Het
Matn2	C	T	15: 34,428,877 (GRCm39)	T747I	possibly damaging	Het
Myl6b	T	A	10: 128,332,175 (GRCm39)	Q97L	possibly damaging	Het
Or5d18	A	T	2: 87,865,126 (GRCm39)	M119K	probably damaging	Het
Pcdh1	A	G	18: 38,336,419 (GRCm39)	V72A	probably damaging	Het
Pira2	T	C	7: 3,845,173 (GRCm39)	T362A	probably benign	Het
Pira2	C	T	7: 3,845,169 (GRCm39)	S363N	probably benign	Het
Pira2	G	C	7: 3,845,172 (GRCm39)	T362S	probably benign	Het
Pkhd1	A	G	1: 20,293,130 (GRCm39)	V2830A	possibly damaging	Het
Plpp1	A	G	13: 112,993,419 (GRCm39)	D118G	probably damaging	Het
Polr2a	A	G	11: 69,626,793 (GRCm39)	S1514P	possibly damaging	Het
Pou3f2	G	T	4: 22,487,291 (GRCm39)	Q281K	possibly damaging	Het
Prl7a2	A	T	13: 27,843,259 (GRCm39)	Y181*	probably null	Het
Prpf4b	T	A	13: 35,068,274 (GRCm39)	S368T	probably benign	Het
Prss45	A	G	9: 110,667,513 (GRCm39)	D53G	probably benign	Het
Ryr2	T	A	13: 11,609,641 (GRCm39)	H4395L	possibly damaging	Het
Spp2	G	T	1: 88,338,927 (GRCm39)	A97S	probably benign	Het
Strn4	T	C	7: 16,556,434 (GRCm39)	F99S	probably damaging	Het
Tcaf2	T	A	6: 42,619,739 (GRCm39)	H96L	probably damaging	Het
Tenm2	T	C	11: 36,054,557 (GRCm39)	D601G	probably damaging	Het
Trpm6	A	T	19: 18,803,166 (GRCm39)	M870L	possibly damaging	Het
Ttn	T	C	2: 76,773,569 (GRCm39)	T2351A	unknown	Het
Xirp2	T	A	2: 67,341,941 (GRCm39)	I1394K	possibly damaging	Het
Zfc3h1	G	T	10: 115,226,794 (GRCm39)	D284Y	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
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

Predicted Primers

PCR Primer
(F):5'- ACATCCTGAATTAATTCCGTCTGC -3'
(R):5'- GAAATCTTCTGTGCCTGGAGC -3'

Sequencing Primer
(F):5'- GCCCCCATTGATGTCTAACATTTTG -3'
(R):5'- GAGCACAGCCAAGCCTGAG -3'

Posted On

2019-06-07