Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01608:Atp8a1'

91877

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp8a1

Ensembl Gene

ENSMUSG00000037685

Gene Name

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

Synonyms

B230107D19Rik, Atp3a2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

67618140-67847434 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 67813136 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 74 (R74*)

Ref Sequence

ENSEMBL: ENSMUSP00000144465 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000037380
AA Change: R74*

SMART Domains

Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: R74*

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 null
Transcript: ENSMUST00000072971
AA Change: R74*

SMART Domains

Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: R74*

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 null
Transcript: ENSMUST00000113651
AA Change: R74*

SMART Domains

Protein: ENSMUSP00000109281
Gene: ENSMUSG00000037685
AA Change: R74*

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

Predicted Effect

probably null
Transcript: ENSMUST00000113652
AA Change: R74*

SMART Domains

Protein: ENSMUSP00000109282
Gene: ENSMUSG00000037685
AA Change: R74*

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 null
Transcript: ENSMUST00000135930
AA Change: R74*

SMART Domains

Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: R74*

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 null
Transcript: ENSMUST00000141443
AA Change: R87*

SMART Domains

Protein: ENSMUSP00000121630
Gene: ENSMUSG00000037685
AA Change: R87*

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 null
Transcript: ENSMUST00000200955
AA Change: R74*

SMART Domains

Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685
AA Change: R74*

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

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	A	G	15: 101,562,629	I66T	probably benign	Het
Abca1	A	T	4: 53,038,158	L2068Q	probably damaging	Het
Abca12	G	T	1: 71,259,442	D2340E	probably damaging	Het
Adcy5	A	G	16: 35,272,165	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,553,774	S311P	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
AF529169	T	C	9: 89,596,498	T832A	probably benign	Het
Atf2	G	T	2: 73,819,078	H396Q	probably damaging	Het
Brpf3	T	C	17: 28,821,517	S971P	probably benign	Het
Btn1a1	T	C	13: 23,461,608	E197G	probably benign	Het
Ccdc136	C	T	6: 29,406,114	A87V	possibly damaging	Het
Celf4	A	G	18: 25,497,503	L376P	probably damaging	Het
Chrm3	G	A	13: 9,878,598	A134V	possibly damaging	Het
Col19a1	G	A	1: 24,282,545	R961C	probably damaging	Het
Cr2	A	G	1: 195,155,220	V1190A	possibly damaging	Het
Dopey1	T	A	9: 86,507,561	S515T	probably benign	Het
Eprs	T	A	1: 185,385,114		probably benign	Het
Fbn2	G	T	18: 58,053,704	Y1708*	probably null	Het
Glt1d1	A	G	5: 127,664,682	N148S	possibly damaging	Het
Gm20425	T	A	9: 103,191,094	I44F	probably damaging	Het
Gpr22	T	A	12: 31,708,780	K411*	probably null	Het
Ipo11	A	G	13: 106,834,494		probably benign	Het
Klri1	T	A	6: 129,698,167	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,354,811	V950M	probably damaging	Het
Knop1	T	C	7: 118,845,796	K315R	probably benign	Het
Lrrc32	T	A	7: 98,499,357	V448D	probably benign	Het
Met	T	C	6: 17,558,730	V1119A	probably damaging	Het
Mipep	T	A	14: 60,802,230	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,316,921	T81A	probably benign	Het
Mtbp	G	T	15: 55,557,689	E24*	probably null	Het
Muc5b	C	T	7: 141,846,437	T476I	unknown	Het
Mup6	C	T	4: 60,006,021	T163I	probably benign	Het
Myo1g	T	A	11: 6,516,780	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,870,836	K1292*	probably null	Het
Nbeal1	T	A	1: 60,242,535		probably benign	Het
Nck1	C	A	9: 100,497,387	R270S	probably benign	Het
Neb	T	C	2: 52,170,536	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,195,543	L96*	probably null	Het
Olfr1250	A	T	2: 89,656,491		probably benign	Het
Olfr141	A	C	2: 86,806,425	Y191*	probably null	Het
Olfr606	A	T	7: 103,451,804	I156F	probably benign	Het
Olfr738	A	T	14: 50,414,453	H303L	probably benign	Het
Padi2	A	G	4: 140,932,230	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,308,750	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,356,925	D552G	probably damaging	Het
Peli3	A	G	19: 4,932,827	I270T	probably damaging	Het
Phf20	A	G	2: 156,276,596	M407V	probably benign	Het
Ppm1h	C	T	10: 122,941,280	R103*	probably null	Het
Rangap1	C	T	15: 81,709,504	V457M	probably benign	Het
Scube2	A	G	7: 109,843,254	V257A	probably benign	Het
Shc1	C	A	3: 89,424,849	Q204K	probably damaging	Het
Slc6a4	T	A	11: 77,027,135	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,946,478	F7L	probably benign	Het
St6galnac4	T	A	2: 32,594,086	C99S	probably damaging	Het
Strc	T	C	2: 121,375,594	D779G	probably benign	Het
Supt6	A	T	11: 78,225,483	Y685N	probably damaging	Het
Traf3ip3	T	C	1: 193,187,110	T256A	probably benign	Het
Vmn1r74	A	T	7: 11,847,633	I287F	probably damaging	Het
Zmym2	C	A	14: 56,948,015	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	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
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
R0329:Atp8a1	UTSW	5	67812073	splice site	probably benign
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
X0019:Atp8a1	UTSW	5	67749141	missense	probably benign	0.22

Posted On

2013-12-09