Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02420:Atp8a1'

292639

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 #

IGL02420

Quality Score

Status

Chromosome

Chromosomal Location

67618140-67847434 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67682783 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 752 (S752P)

Ref Sequence

ENSEMBL: ENSMUSP00000118379 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037380
AA Change: S767P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: S767P

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 damaging
Transcript: ENSMUST00000072971
AA Change: S767P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: S767P

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 damaging
Transcript: ENSMUST00000135930
AA Change: S752P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: S752P

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

noncoding transcript
Transcript: ENSMUST00000155911

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,880,494	N136S	probably damaging	Het
3110062M04Rik	T	C	6: 34,874,469	Y150C	probably damaging	Het
Adcy8	A	G	15: 64,787,454	S496P	probably damaging	Het
Agbl3	T	A	6: 34,785,307	S81T	possibly damaging	Het
Apobec1	A	T	6: 122,581,572	Y75N	probably benign	Het
Asic2	A	G	11: 80,881,653	L517P	probably benign	Het
Blm	T	C	7: 80,496,006	Y775C	probably damaging	Het
C1qtnf5	T	C	9: 44,108,604	I175T	probably benign	Het
Ccdc81	G	A	7: 89,875,738	T545I	probably benign	Het
Ccdc88b	T	C	19: 6,856,949	E174G	probably damaging	Het
Chl1	G	A	6: 103,715,369	V1066M	probably damaging	Het
Cntn6	T	A	6: 104,846,142		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cysrt1	T	C	2: 25,239,348	I51V	probably benign	Het
Dnah7a	T	C	1: 53,686,543	N69S	probably benign	Het
Fam83d	T	C	2: 158,785,735	L448P	probably benign	Het
Gm9631	G	A	11: 121,943,652			Het
Hmcn1	T	C	1: 150,722,424	Y1709C	probably damaging	Het
Inppl1	G	A	7: 101,832,319		probably benign	Het
Iqcc	T	C	4: 129,616,955	T256A	probably benign	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Lyz1	A	T	10: 117,288,630	C134S	probably damaging	Het
Mpzl3	T	C	9: 45,066,517	I141T	possibly damaging	Het
Mterf1a	T	C	5: 3,891,047	N274D	probably damaging	Het
Myo18a	T	A	11: 77,818,693	V543D	possibly damaging	Het
Myo18b	A	T	5: 112,827,986	D1332E	possibly damaging	Het
Olfr458	A	G	6: 42,460,176	V281A	probably benign	Het
Pcdh15	A	T	10: 74,303,106	D333V	probably damaging	Het
Plekha7	A	G	7: 116,158,234	Y494H	probably damaging	Het
Plekhg1	A	G	10: 3,964,106	N1276S	probably damaging	Het
Ppig	T	C	2: 69,732,227	V5A	probably benign	Het
Prag1	A	T	8: 36,147,426		probably benign	Het
Prom1	T	C	5: 44,063,154	N84S	probably benign	Het
Ptprh	T	A	7: 4,580,930	Y221F	probably damaging	Het
Qsox2	A	G	2: 26,220,719	Y162H	probably benign	Het
Rab2a	C	T	4: 8,572,553	T49M	possibly damaging	Het
Ring1	A	G	17: 34,023,148	S96P	possibly damaging	Het
Ripk3	A	G	14: 55,785,234	F411S	probably benign	Het
Rock1	T	C	18: 10,070,619		probably null	Het
Rtn4rl1	A	G	11: 75,265,819	N359S	probably damaging	Het
Ssfa2	T	C	2: 79,635,642	S35P	probably damaging	Het
Sufu	A	G	19: 46,425,042	T76A	probably damaging	Het
Sugct	C	A	13: 17,452,468	V267F	probably damaging	Het
Tcf4	A	T	18: 69,564,139	R29W	probably damaging	Het
Tnfsf18	A	T	1: 161,503,589	I103L	probably benign	Het
Vwf	A	G	6: 125,677,916	E2525G	probably benign	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
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

2015-04-16