Mutagenetix > Incidental Mutation

Incidental Mutation 'R0329:Atp8a1'

65093

Institutional Source

Beutler Lab

Gene Symbol

Atp8a1

Ensembl Gene

ENSMUSG00000037685

Gene Name

ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1

Synonyms

B230107D19Rik, Atp3a2

MMRRC Submission

038538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0329 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

67618140-67847434 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 67812073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000113651] [ENSMUST00000113652] [ENSMUST00000135930] [ENSMUST00000141443] [ENSMUST00000200955]

AlphaFold

P70704

Predicted Effect

probably benign
Transcript: ENSMUST00000037380

SMART Domains

Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	38	101	9.8e-27	PFAM
Pfam:E1-E2_ATPase	106	371	3e-11	PFAM
Pfam:HAD	406	810	3.8e-23	PFAM
Pfam:Cation_ATPase	485	585	6e-14	PFAM
Pfam:PhoLip_ATPase_C	827	1079	8.2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072971

SMART Domains

Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685

Domain	Start	End	E-Value	Type
Pfam:E1-E2_ATPase	104	375	2.1e-22	PFAM
Pfam:Hydrolase	403	798	2.2e-14	PFAM
Pfam:HAD	406	795	3e-18	PFAM
Pfam:Hydrolase_like2	470	570	4.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113651

SMART Domains

Protein: ENSMUSP00000109281
Gene: ENSMUSG00000037685

Domain	Start	End	E-Value	Type
Blast:CUB	46	87	4e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113652

SMART Domains

Protein: ENSMUSP00000109282
Gene: ENSMUSG00000037685

Domain	Start	End	E-Value	Type
Blast:CUB	46	87	9e-6	BLAST
Pfam:E1-E2_ATPase	104	175	6.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130652

Predicted Effect

probably benign
Transcript: ENSMUST00000135930

SMART Domains

Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	38	101	1.1e-26	PFAM
Pfam:E1-E2_ATPase	106	371	8.6e-14	PFAM
Pfam:HAD	406	795	3.6e-23	PFAM
Pfam:Cation_ATPase	470	570	1.2e-13	PFAM
Pfam:PhoLip_ATPase_C	812	1064	8.4e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141443

SMART Domains

Protein: ENSMUSP00000121630
Gene: ENSMUSG00000037685

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	51	106	9.6e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143013

Predicted Effect

probably benign
Transcript: ENSMUST00000200955

SMART Domains

Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	38	101	7.5e-25	PFAM
Pfam:E1-E2_ATPase	106	371	3.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202248

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable, fertile and phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,883,631	I400F	probably benign	Het
4833423E24Rik	T	A	2: 85,518,551	R72S	probably benign	Het
4931409K22Rik	T	C	5: 24,545,785		probably null	Het
Abca13	A	T	11: 9,399,430	H3668L	probably damaging	Het
Acvr1c	T	C	2: 58,284,838	T313A	probably damaging	Het
Adam28	T	C	14: 68,617,739	K651R	probably damaging	Het
Adamtsl3	A	T	7: 82,521,990	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,667,313	C380S	probably damaging	Het
AI597479	T	G	1: 43,111,117	L129R	probably benign	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Anxa7	A	C	14: 20,469,498		probably null	Het
Arhgap22	A	G	14: 33,369,417	R650G	possibly damaging	Het
Bcr	C	T	10: 75,181,634	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,429,777	S185N	probably benign	Het
Calcoco1	A	T	15: 102,715,763	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534		probably benign	Het
Ccno	T	A	13: 112,989,996	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,734,801		probably benign	Het
Cftr	T	A	6: 18,226,097	M318K	probably null	Het
Ckmt2	T	A	13: 91,863,203	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,441,910	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,188,309	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,211,660	L92H	probably damaging	Het
Crcp	C	A	5: 130,042,242	Q61K	possibly damaging	Het
Dcaf8	T	A	1: 172,187,411	D414E	probably benign	Het
Ddx28	T	C	8: 106,010,245	T394A	probably benign	Het
Ddx55	T	C	5: 124,559,147	F191L	probably benign	Het
Dnaaf1	T	C	8: 119,596,017		probably benign	Het
Dnaaf2	C	A	12: 69,197,744	R181L	probably damaging	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elf5	A	G	2: 103,430,420		probably benign	Het
Emcn	T	A	3: 137,416,814		probably benign	Het
Erbb4	T	C	1: 68,298,280		probably benign	Het
Erbin	C	A	13: 103,868,865	C114F	probably damaging	Het
Etfdh	T	C	3: 79,609,844	I353V	probably benign	Het
Fam172a	T	A	13: 77,761,951		probably benign	Het
Fbxl12	C	T	9: 20,638,480	G316D	probably damaging	Het
Gbf1	G	A	19: 46,272,270		probably null	Het
Gbp2b	T	G	3: 142,608,176	S406A	probably benign	Het
Gli3	T	G	13: 15,723,558	L741R	probably damaging	Het
Gmip	G	T	8: 69,810,818	S70I	probably benign	Het
Gnptab	T	C	10: 88,440,309	S1153P	probably damaging	Het
Gp1ba	A	G	11: 70,640,409		probably benign	Het
Gramd1a	T	C	7: 31,138,254	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,259,864	I285T	probably benign	Het
Hrh4	A	G	18: 13,007,245		probably benign	Het
Hsp90b1	T	C	10: 86,694,155	E226G	probably damaging	Het
Hspa13	A	T	16: 75,765,130	D60E	probably damaging	Het
Htt	T	A	5: 34,817,134		probably benign	Het
Ispd	C	T	12: 36,381,838	A22V	possibly damaging	Het
Kif14	G	C	1: 136,496,026		probably benign	Het
Kit	T	G	5: 75,652,829	V888G	probably damaging	Het
Lpin3	T	C	2: 160,905,305	V827A	probably benign	Het
Lrriq4	T	C	3: 30,655,724	S406P	probably benign	Het
Man2c1	T	C	9: 57,141,183	V777A	probably benign	Het
Mcm8	A	G	2: 132,819,994	K83E	possibly damaging	Het
Mep1a	A	G	17: 43,497,898		probably null	Het
Mtor	T	A	4: 148,484,380	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,509,029	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,923,677	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,268,063	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,749,526	F11L	probably benign	Het
Nutf2	T	A	8: 105,876,363	S37T	probably damaging	Het
Obscn	T	A	11: 59,040,441	I5790F	probably damaging	Het
Obscn	A	T	11: 59,052,506	D4833E	probably damaging	Het
Olfr1015	T	A	2: 85,785,803	C97*	probably null	Het
Olfr123	A	T	17: 37,795,989	M182L	probably benign	Het
Olfr39	T	A	9: 20,285,857	S61T	possibly damaging	Het
Olfr955	T	C	9: 39,470,556	T57A	possibly damaging	Het
Pcdhb1	A	G	18: 37,267,024	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,889,444	R466L	probably damaging	Het
Pdk1	T	C	2: 71,895,674		probably benign	Het
Phxr2	T	C	10: 99,126,117		probably benign	Het
Pidd1	A	T	7: 141,439,561		probably benign	Het
Plec	A	G	15: 76,191,418		probably null	Het
Polr1a	T	A	6: 71,966,416	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,831		probably benign	Het
Prdm5	T	C	6: 65,862,903		probably benign	Het
Primpol	A	T	8: 46,610,461	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,361,976	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,159,703	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,373,235	R218*	probably null	Het
Ssbp2	T	A	13: 91,680,579		probably null	Het
Stat4	A	G	1: 52,090,870		probably benign	Het
Steap4	T	C	5: 7,975,829	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238		probably null	Het
Syne2	G	T	12: 75,966,953	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,306,893	F200V	probably damaging	Het
Tgm4	T	C	9: 123,048,557		probably null	Het
Tie1	C	A	4: 118,484,727	R175L	probably benign	Het
Tmem145	A	G	7: 25,308,674		probably benign	Het
Tsacc	A	G	3: 88,282,862	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,770,033	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,092		probably null	Het
Ugt2b35	A	G	5: 87,003,405	K290R	probably null	Het
Unc80	T	C	1: 66,674,087	L2788P	possibly damaging	Het
Usp10	T	A	8: 119,936,557	C39*	probably null	Het
Utp20	T	A	10: 88,817,979	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,610,717	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,691,018	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,066,347	H369P	probably benign	Het
Vps39	A	T	2: 120,338,787	Y245N	possibly damaging	Het
Wdr27	A	G	17: 14,934,459		probably benign	Het
Ythdc2	A	G	18: 44,865,060		probably benign	Het
Zcwpw2	C	A	9: 118,014,055		noncoding transcript	Het
Zdhhc1	C	A	8: 105,483,543	A81S	probably benign	Het
Zfp729a	G	T	13: 67,620,354	H585Q	probably damaging	Het

Other mutations in Atp8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Atp8a1	APN	5	67749143	missense	probably benign	0.20
IGL00778:Atp8a1	APN	5	67659903	missense	possibly damaging	0.58
IGL01068:Atp8a1	APN	5	67667337	missense	probably benign	0.02
IGL01152:Atp8a1	APN	5	67847206	missense	probably damaging	0.99
IGL01572:Atp8a1	APN	5	67667651	missense	probably benign
IGL01608:Atp8a1	APN	5	67813136	nonsense	probably null
IGL02171:Atp8a1	APN	5	67738465	missense	probably damaging	1.00
IGL02330:Atp8a1	APN	5	67813177	missense	probably damaging	0.98
IGL02381:Atp8a1	APN	5	67705995	missense	probably benign
IGL02420:Atp8a1	APN	5	67682783	missense	probably damaging	1.00
IGL02440:Atp8a1	APN	5	67667434	splice site	probably benign
IGL02598:Atp8a1	APN	5	67682756	critical splice donor site	probably null
IGL03259:Atp8a1	APN	5	67624006	splice site	probably null
IGL03336:Atp8a1	APN	5	67729807	nonsense	probably null
IGL03380:Atp8a1	APN	5	67732186	missense	probably benign	0.25
PIT4131001:Atp8a1	UTSW	5	67622602	nonsense	probably null
PIT4445001:Atp8a1	UTSW	5	67622660	missense
R0208:Atp8a1	UTSW	5	67774721	critical splice donor site	probably null
R0276:Atp8a1	UTSW	5	67786673	splice site	probably benign
R0279:Atp8a1	UTSW	5	67813092	splice site	probably null
R0603:Atp8a1	UTSW	5	67756696	critical splice acceptor site	probably null
R0715:Atp8a1	UTSW	5	67774725	missense	probably benign	0.00
R0763:Atp8a1	UTSW	5	67659883	missense	probably benign
R1296:Atp8a1	UTSW	5	67622706	splice site	probably benign
R1631:Atp8a1	UTSW	5	67749052	splice site	probably null
R1764:Atp8a1	UTSW	5	67631567	missense	probably benign	0.14
R1771:Atp8a1	UTSW	5	67647731	missense	probably damaging	1.00
R1885:Atp8a1	UTSW	5	67747318	missense	possibly damaging	0.82
R1897:Atp8a1	UTSW	5	67738429	missense	probably damaging	1.00
R1968:Atp8a1	UTSW	5	67667657	missense	probably benign	0.05
R2965:Atp8a1	UTSW	5	67647706	missense	probably benign	0.28
R2966:Atp8a1	UTSW	5	67647706	missense	probably benign	0.28
R4247:Atp8a1	UTSW	5	67667574	missense	probably damaging	1.00
R4353:Atp8a1	UTSW	5	67769108	missense	probably damaging	1.00
R4400:Atp8a1	UTSW	5	67764878	missense	probably benign	0.13
R4426:Atp8a1	UTSW	5	67774828	missense	probably benign	0.22
R4523:Atp8a1	UTSW	5	67667600	missense	probably benign	0.00
R4576:Atp8a1	UTSW	5	67815815	intron	probably benign
R4622:Atp8a1	UTSW	5	67682713	intron	probably benign
R4639:Atp8a1	UTSW	5	67655974	missense	probably benign	0.36
R4664:Atp8a1	UTSW	5	67762586	missense	possibly damaging	0.92
R4732:Atp8a1	UTSW	5	67813120	missense	probably benign	0.07
R4733:Atp8a1	UTSW	5	67813120	missense	probably benign	0.07
R5071:Atp8a1	UTSW	5	67815723	missense	probably benign	0.29
R5267:Atp8a1	UTSW	5	67762544	missense	probably damaging	1.00
R5314:Atp8a1	UTSW	5	67705905	critical splice donor site	probably null
R5424:Atp8a1	UTSW	5	67812100	missense	probably damaging	1.00
R5588:Atp8a1	UTSW	5	67814684	missense	probably damaging	1.00
R5698:Atp8a1	UTSW	5	67767153	missense	probably benign	0.14
R5815:Atp8a1	UTSW	5	67749071	missense	probably benign	0.00
R5977:Atp8a1	UTSW	5	67747285	missense	possibly damaging	0.94
R6285:Atp8a1	UTSW	5	67667607	missense	possibly damaging	0.68
R6341:Atp8a1	UTSW	5	67682927	missense	possibly damaging	0.88
R6736:Atp8a1	UTSW	5	67667617	missense	probably damaging	1.00
R6746:Atp8a1	UTSW	5	67751049	missense	probably benign	0.00
R6887:Atp8a1	UTSW	5	67738451	missense	probably benign	0.21
R6946:Atp8a1	UTSW	5	67622625	missense	possibly damaging	0.50
R6970:Atp8a1	UTSW	5	67738462	missense	probably damaging	1.00
R7035:Atp8a1	UTSW	5	67781030	missense	probably benign	0.00
R7218:Atp8a1	UTSW	5	67702981	missense
R7278:Atp8a1	UTSW	5	67624037	missense
R7530:Atp8a1	UTSW	5	67745628	missense
R7548:Atp8a1	UTSW	5	67815728	nonsense	probably null
R7594:Atp8a1	UTSW	5	67651592	missense
R7722:Atp8a1	UTSW	5	67622698	critical splice acceptor site	probably null
R8152:Atp8a1	UTSW	5	67762582	missense
R9015:Atp8a1	UTSW	5	67729907	missense
R9052:Atp8a1	UTSW	5	67778958	critical splice donor site	probably null
R9086:Atp8a1	UTSW	5	67774816	missense
R9169:Atp8a1	UTSW	5	67667601	missense
R9183:Atp8a1	UTSW	5	67767035	missense
R9245:Atp8a1	UTSW	5	67622634	missense	unknown
R9401:Atp8a1	UTSW	5	67749149	missense
R9607:Atp8a1	UTSW	5	67659907	missense
R9664:Atp8a1	UTSW	5	67732181	missense
X0019:Atp8a1	UTSW	5	67749141	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TCAAGGCATCTAATAAGGTGAAAACCCC -3'
(R):5'- GGAGGAATGTTTTAGAAGAGCCTGTGAC -3'

Sequencing Primer
(F):5'- ccaggctgacctcgaac -3'
(R):5'- GAAGAGCCTGTGACATTATTCTC -3'

Posted On

2013-08-08