Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02381:Atp8a1'

291378

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp8a1

Ensembl Gene

ENSMUSG00000037685

Gene Name

ATPase phospholipid transporting 8A1

Synonyms

Atp3a2, B230107D19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02381

Quality Score

Status

Chromosome

Chromosomal Location

67775483-68004777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67863338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 651 (Q651R)

Ref Sequence

ENSEMBL: ENSMUSP00000118379 (fasta)

Gene Model

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

AlphaFold

P70704

Predicted Effect

probably benign
Transcript: ENSMUST00000037380
AA Change: Q666R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: Q666R

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
AA Change: Q666R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: Q666R

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: ENSMUST00000135930
AA Change: Q651R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: Q651R

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,904,413 (GRCm39)	I126F	probably damaging	Het
Antxrl	T	G	14: 33,778,568 (GRCm39)		probably null	Het
Arsa	A	T	15: 89,359,740 (GRCm39)	Y62*	probably null	Het
Atg2b	C	A	12: 105,614,607 (GRCm39)	C1108F	probably damaging	Het
Atxn7l2	A	G	3: 108,111,811 (GRCm39)		probably benign	Het
Cacna1f	A	G	X: 7,482,307 (GRCm39)	D597G	probably damaging	Het
Capn12	T	C	7: 28,585,880 (GRCm39)		probably benign	Het
Ctnna2	A	T	6: 76,931,766 (GRCm39)	D624E	probably benign	Het
Dnah2	T	C	11: 69,337,118 (GRCm39)	E3274G	probably benign	Het
Dnah7b	A	T	1: 46,316,280 (GRCm39)	N3131I	probably damaging	Het
Fam3a	C	T	X: 73,430,690 (GRCm39)	G112E	probably damaging	Het
Focad	T	G	4: 88,192,327 (GRCm39)		probably benign	Het
Fyb2	G	A	4: 104,805,863 (GRCm39)		probably benign	Het
Htt	C	T	5: 34,987,104 (GRCm39)	P1108S	probably benign	Het
Ift80	A	T	3: 68,869,653 (GRCm39)		probably null	Het
Insc	T	C	7: 114,449,177 (GRCm39)	*533Q	probably null	Het
Itga2	A	G	13: 114,993,258 (GRCm39)	C786R	probably damaging	Het
Lman2	A	G	13: 55,499,282 (GRCm39)	W198R	possibly damaging	Het
Med23	A	G	10: 24,776,626 (GRCm39)	T713A	possibly damaging	Het
Mtus1	A	T	8: 41,536,156 (GRCm39)	M520K	probably benign	Het
Mvd	C	A	8: 123,163,894 (GRCm39)	G252V	probably benign	Het
Ncoa3	T	A	2: 165,894,737 (GRCm39)	V340E	probably damaging	Het
Necab1	A	G	4: 15,148,812 (GRCm39)		probably null	Het
Noxred1	T	C	12: 87,271,776 (GRCm39)	D131G	probably damaging	Het
P2ry4	C	A	X: 99,637,807 (GRCm39)	K30N	probably damaging	Het
Pcdhac2	T	A	18: 37,277,320 (GRCm39)	V100D	possibly damaging	Het
Piezo1	C	A	8: 123,225,283 (GRCm39)	R571L	probably benign	Het
Pkd1l2	C	T	8: 117,762,539 (GRCm39)		probably benign	Het
Plekhm2	T	C	4: 141,370,034 (GRCm39)	T32A	possibly damaging	Het
Rev3l	T	C	10: 39,697,342 (GRCm39)	V613A	possibly damaging	Het
Rp1	A	G	1: 4,422,613 (GRCm39)	S156P	probably benign	Het
Sema3f	A	T	9: 107,569,594 (GRCm39)	D48E	probably damaging	Het
Shisal1	A	G	15: 84,290,654 (GRCm39)	S218P	probably damaging	Het
Slc29a4	T	C	5: 142,705,854 (GRCm39)	V446A	probably benign	Het
Sppl3	C	T	5: 115,212,969 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,599,982 (GRCm39)	E19064G	probably damaging	Het
Vps35l	A	G	7: 118,374,598 (GRCm39)	Y342C	probably damaging	Het

Other mutations in Atp8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Atp8a1	APN	5	67,906,486 (GRCm39)	missense	probably benign	0.20
IGL00778:Atp8a1	APN	5	67,817,246 (GRCm39)	missense	possibly damaging	0.58
IGL01068:Atp8a1	APN	5	67,824,680 (GRCm39)	missense	probably benign	0.02
IGL01152:Atp8a1	APN	5	68,004,549 (GRCm39)	missense	probably damaging	0.99
IGL01572:Atp8a1	APN	5	67,824,994 (GRCm39)	missense	probably benign
IGL01608:Atp8a1	APN	5	67,970,479 (GRCm39)	nonsense	probably null
IGL02171:Atp8a1	APN	5	67,895,808 (GRCm39)	missense	probably damaging	1.00
IGL02330:Atp8a1	APN	5	67,970,520 (GRCm39)	missense	probably damaging	0.98
IGL02420:Atp8a1	APN	5	67,840,126 (GRCm39)	missense	probably damaging	1.00
IGL02440:Atp8a1	APN	5	67,824,777 (GRCm39)	splice site	probably benign
IGL02598:Atp8a1	APN	5	67,840,099 (GRCm39)	critical splice donor site	probably null
IGL03259:Atp8a1	APN	5	67,781,349 (GRCm39)	splice site	probably null
IGL03336:Atp8a1	APN	5	67,887,150 (GRCm39)	nonsense	probably null
IGL03380:Atp8a1	APN	5	67,889,529 (GRCm39)	missense	probably benign	0.25
PIT4131001:Atp8a1	UTSW	5	67,779,945 (GRCm39)	nonsense	probably null
PIT4445001:Atp8a1	UTSW	5	67,780,003 (GRCm39)	missense
R0208:Atp8a1	UTSW	5	67,932,064 (GRCm39)	critical splice donor site	probably null
R0276:Atp8a1	UTSW	5	67,944,016 (GRCm39)	splice site	probably benign
R0279:Atp8a1	UTSW	5	67,970,435 (GRCm39)	splice site	probably null
R0329:Atp8a1	UTSW	5	67,969,416 (GRCm39)	splice site	probably benign
R0603:Atp8a1	UTSW	5	67,914,039 (GRCm39)	critical splice acceptor site	probably null
R0715:Atp8a1	UTSW	5	67,932,068 (GRCm39)	missense	probably benign	0.00
R0763:Atp8a1	UTSW	5	67,817,226 (GRCm39)	missense	probably benign
R1296:Atp8a1	UTSW	5	67,780,049 (GRCm39)	splice site	probably benign
R1631:Atp8a1	UTSW	5	67,906,395 (GRCm39)	splice site	probably null
R1764:Atp8a1	UTSW	5	67,788,910 (GRCm39)	missense	probably benign	0.14
R1771:Atp8a1	UTSW	5	67,805,074 (GRCm39)	missense	probably damaging	1.00
R1885:Atp8a1	UTSW	5	67,904,661 (GRCm39)	missense	possibly damaging	0.82
R1897:Atp8a1	UTSW	5	67,895,772 (GRCm39)	missense	probably damaging	1.00
R1968:Atp8a1	UTSW	5	67,825,000 (GRCm39)	missense	probably benign	0.05
R2965:Atp8a1	UTSW	5	67,805,049 (GRCm39)	missense	probably benign	0.28
R2966:Atp8a1	UTSW	5	67,805,049 (GRCm39)	missense	probably benign	0.28
R4247:Atp8a1	UTSW	5	67,824,917 (GRCm39)	missense	probably damaging	1.00
R4353:Atp8a1	UTSW	5	67,926,451 (GRCm39)	missense	probably damaging	1.00
R4400:Atp8a1	UTSW	5	67,922,221 (GRCm39)	missense	probably benign	0.13
R4426:Atp8a1	UTSW	5	67,932,171 (GRCm39)	missense	probably benign	0.22
R4523:Atp8a1	UTSW	5	67,824,943 (GRCm39)	missense	probably benign	0.00
R4576:Atp8a1	UTSW	5	67,973,158 (GRCm39)	intron	probably benign
R4622:Atp8a1	UTSW	5	67,840,056 (GRCm39)	intron	probably benign
R4639:Atp8a1	UTSW	5	67,813,317 (GRCm39)	missense	probably benign	0.36
R4664:Atp8a1	UTSW	5	67,919,929 (GRCm39)	missense	possibly damaging	0.92
R4732:Atp8a1	UTSW	5	67,970,463 (GRCm39)	missense	probably benign	0.07
R4733:Atp8a1	UTSW	5	67,970,463 (GRCm39)	missense	probably benign	0.07
R5071:Atp8a1	UTSW	5	67,973,066 (GRCm39)	missense	probably benign	0.29
R5267:Atp8a1	UTSW	5	67,919,887 (GRCm39)	missense	probably damaging	1.00
R5314:Atp8a1	UTSW	5	67,863,248 (GRCm39)	critical splice donor site	probably null
R5424:Atp8a1	UTSW	5	67,969,443 (GRCm39)	missense	probably damaging	1.00
R5588:Atp8a1	UTSW	5	67,972,027 (GRCm39)	missense	probably damaging	1.00
R5698:Atp8a1	UTSW	5	67,924,496 (GRCm39)	missense	probably benign	0.14
R5815:Atp8a1	UTSW	5	67,906,414 (GRCm39)	missense	probably benign	0.00
R5977:Atp8a1	UTSW	5	67,904,628 (GRCm39)	missense	possibly damaging	0.94
R6285:Atp8a1	UTSW	5	67,824,950 (GRCm39)	missense	possibly damaging	0.68
R6341:Atp8a1	UTSW	5	67,840,270 (GRCm39)	missense	possibly damaging	0.88
R6736:Atp8a1	UTSW	5	67,824,960 (GRCm39)	missense	probably damaging	1.00
R6746:Atp8a1	UTSW	5	67,908,392 (GRCm39)	missense	probably benign	0.00
R6887:Atp8a1	UTSW	5	67,895,794 (GRCm39)	missense	probably benign	0.21
R6946:Atp8a1	UTSW	5	67,779,968 (GRCm39)	missense	possibly damaging	0.50
R6970:Atp8a1	UTSW	5	67,895,805 (GRCm39)	missense	probably damaging	1.00
R7035:Atp8a1	UTSW	5	67,938,373 (GRCm39)	missense	probably benign	0.00
R7218:Atp8a1	UTSW	5	67,860,324 (GRCm39)	missense
R7278:Atp8a1	UTSW	5	67,781,380 (GRCm39)	missense
R7530:Atp8a1	UTSW	5	67,902,971 (GRCm39)	missense
R7548:Atp8a1	UTSW	5	67,973,071 (GRCm39)	nonsense	probably null
R7594:Atp8a1	UTSW	5	67,808,935 (GRCm39)	missense
R7722:Atp8a1	UTSW	5	67,780,041 (GRCm39)	critical splice acceptor site	probably null
R8152:Atp8a1	UTSW	5	67,919,925 (GRCm39)	missense
R9015:Atp8a1	UTSW	5	67,887,250 (GRCm39)	missense
R9052:Atp8a1	UTSW	5	67,936,301 (GRCm39)	critical splice donor site	probably null
R9086:Atp8a1	UTSW	5	67,932,159 (GRCm39)	missense
R9169:Atp8a1	UTSW	5	67,824,944 (GRCm39)	missense
R9183:Atp8a1	UTSW	5	67,924,378 (GRCm39)	missense
R9245:Atp8a1	UTSW	5	67,779,977 (GRCm39)	missense	unknown
R9401:Atp8a1	UTSW	5	67,906,492 (GRCm39)	missense
R9607:Atp8a1	UTSW	5	67,817,250 (GRCm39)	missense
R9664:Atp8a1	UTSW	5	67,889,524 (GRCm39)	missense
X0019:Atp8a1	UTSW	5	67,906,484 (GRCm39)	missense	probably benign	0.22

Posted On

2015-04-16