Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00776:Atp8a1'

9144

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 #

IGL00776

Quality Score

Status

Chromosome

Chromosomal Location

67775483-68004777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67906486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 461 (I461N)

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: I476N

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: I476N

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: I476N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: I476N

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: I461N

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: I461N

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	T	2: 19,545,182 (GRCm39)	D90E	probably benign	Het
Abcb5	T	C	12: 118,883,589 (GRCm39)	S560G	probably damaging	Het
Ankrd24	A	C	10: 81,478,979 (GRCm39)		probably benign	Het
Eif4a1	G	A	11: 69,559,922 (GRCm39)	L166F	probably damaging	Het
Herc1	T	A	9: 66,328,320 (GRCm39)	H1542Q	probably benign	Het
Itih4	G	A	14: 30,611,561 (GRCm39)	V95I	probably benign	Het
Kcnh7	A	G	2: 62,680,720 (GRCm39)	I289T	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Mterf1a	A	C	5: 3,941,809 (GRCm39)	W20G	possibly damaging	Het
Slc24a5	T	C	2: 124,922,809 (GRCm39)	S161P	probably damaging	Het
Slc25a21	G	A	12: 56,816,990 (GRCm39)	T99I	probably benign	Het
Smurf1	A	G	5: 144,818,584 (GRCm39)	S619P	probably benign	Het
Sorbs1	C	T	19: 40,332,795 (GRCm39)		probably null	Het
Strn4	C	T	7: 16,564,377 (GRCm39)	R185C	probably damaging	Het
Tctn3	A	G	19: 40,585,865 (GRCm39)	F560S	probably damaging	Het

Other mutations in Atp8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02381:Atp8a1	APN	5	67,863,338 (GRCm39)	missense	probably benign
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

2012-12-06