Mutagenetix > Incidental Mutation

Incidental Mutation 'R9664:Atp8a1'

735604

Institutional Source

Beutler Lab

Gene Symbol

Atp8a1

Ensembl Gene

ENSMUSG00000037685

Gene Name

ATPase phospholipid transporting 8A1

Synonyms

Atp3a2, B230107D19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9664 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67775483-68004777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67889524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 599 (F599V)

Ref Sequence

ENSEMBL: ENSMUSP00000042215 (fasta)

Gene Model

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

AlphaFold

P70704

Predicted Effect

SMART Domains

Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: F599V

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: F599V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: F599V

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: F584V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: F584V

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: 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

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	G	A	15: 76,478,383 (GRCm39)	D277N	probably damaging	Het
Adgrv1	A	T	13: 81,670,288 (GRCm39)	S2353T	probably benign	Het
Adgrv1	A	T	13: 81,743,371 (GRCm39)	N43K	probably damaging	Het
Adnp2	A	G	18: 80,185,937 (GRCm39)	I12T	probably damaging	Het
Ahnak2	A	G	12: 112,741,363 (GRCm39)	L903P	probably damaging	Het
Ankhd1	T	G	18: 36,780,878 (GRCm39)	S1977A	probably benign	Het
Ap1m2	T	C	9: 21,216,983 (GRCm39)	M118V	probably benign	Het
Ap3d1	T	C	10: 80,548,639 (GRCm39)	K846R	possibly damaging	Het
Aqr	C	A	2: 113,971,396 (GRCm39)	E480*	probably null	Het
Arl6	G	T	16: 59,434,199 (GRCm39)	Q182K	probably benign	Het
Arpc2	A	G	1: 74,294,034 (GRCm39)	K106E	probably benign	Het
B3galt5	A	T	16: 96,117,203 (GRCm39)	I279F	probably damaging	Het
Calcoco2	G	T	11: 95,991,104 (GRCm39)	A211D	unknown	Het
Ccdc33	T	C	9: 57,993,855 (GRCm39)	E342G	possibly damaging	Het
Ccdc88a	C	A	11: 29,405,484 (GRCm39)	Q386K	probably benign	Het
Cdh20	A	G	1: 104,862,065 (GRCm39)	K82E	probably benign	Het
Clca3a2	A	T	3: 144,503,575 (GRCm39)	Y792N	probably damaging	Het
Col6a6	T	C	9: 105,658,254 (GRCm39)	I653V	probably benign	Het
Col7a1	C	T	9: 108,812,649 (GRCm39)	R2826W	unknown	Het
D6Ertd527e	A	G	6: 87,088,908 (GRCm39)	N357S	unknown	Het
Dmgdh	T	A	13: 93,857,123 (GRCm39)	N742K	probably benign	Het
Dnai3	T	C	3: 145,748,594 (GRCm39)	N840S	probably benign	Het
Dnajc6	A	G	4: 101,475,821 (GRCm39)	N565D	probably benign	Het
Doc2g	A	G	19: 4,054,390 (GRCm39)	Y155C	probably damaging	Het
Dot1l	G	A	10: 80,624,361 (GRCm39)	G943D	probably damaging	Het
Dst	T	C	1: 34,220,736 (GRCm39)	V2180A	probably benign	Het
Eftud2	A	C	11: 102,759,422 (GRCm39)	Y160*	probably null	Het
Ehd1	A	T	19: 6,331,262 (GRCm39)	Q140L	probably benign	Het
Etv3	T	C	3: 87,443,172 (GRCm39)	V252A	probably benign	Het
F11	A	T	8: 45,694,566 (GRCm39)	C598*	probably null	Het
Fancm	T	A	12: 65,137,758 (GRCm39)	N316K	probably benign	Het
Flnc	T	C	6: 29,457,214 (GRCm39)	V2372A	probably damaging	Het
Fry	A	G	5: 150,282,488 (GRCm39)	R338G	probably damaging	Het
Gfra3	T	C	18: 34,837,591 (GRCm39)	T136A	probably benign	Het
Golga7b	T	C	19: 42,255,462 (GRCm39)	V113A	possibly damaging	Het
Gpn3	G	T	5: 122,520,306 (GRCm39)	V102L		Het
Herc2	A	G	7: 55,820,338 (GRCm39)	N2859S	possibly damaging	Het
Hpd	A	T	5: 123,318,948 (GRCm39)		probably null	Het
Hspg2	C	T	4: 137,266,887 (GRCm39)	T1964I	probably benign	Het
Hydin	A	T	8: 111,220,965 (GRCm39)	T1454S	probably benign	Het
Irgm2	A	T	11: 58,110,872 (GRCm39)	T188S	possibly damaging	Het
Jak3	A	G	8: 72,131,366 (GRCm39)	D77G	probably damaging	Het
Kcnj4	G	T	15: 79,369,220 (GRCm39)	F253L	possibly damaging	Het
Kidins220	T	A	12: 25,106,895 (GRCm39)	D1358E	probably benign	Het
Klf1	C	A	8: 85,630,061 (GRCm39)	C295*	probably null	Het
Kmt2a	C	T	9: 44,760,102 (GRCm39)	W582*	probably null	Het
Lrig2	A	G	3: 104,371,556 (GRCm39)	C716R	probably damaging	Het
Lrp1b	C	T	2: 40,765,004 (GRCm39)	D2941N		Het
Lrpprc	A	T	17: 85,020,262 (GRCm39)	V1141E	probably damaging	Het
Mrgprx1	C	T	7: 47,671,273 (GRCm39)	G158D	probably benign	Het
Muc5b	C	A	7: 141,409,279 (GRCm39)	A1121D	unknown	Het
Nf1	G	T	11: 79,334,733 (GRCm39)	V852L	probably damaging	Het
Nlrp5	A	G	7: 23,118,286 (GRCm39)	E670G	probably benign	Het
Notch4	A	G	17: 34,784,601 (GRCm39)	T101A	probably benign	Het
Or10a49	T	C	7: 108,467,563 (GRCm39)	Y266C	probably damaging	Het
Or2t35	T	A	14: 14,407,963 (GRCm38)	I245K	probably benign	Het
Or5b123	G	A	19: 13,597,365 (GRCm39)	V237I	probably benign	Het
P2rx2	T	C	5: 110,488,172 (GRCm39)	T461A	probably benign	Het
Pank1	G	A	19: 34,799,194 (GRCm39)	T419I	probably damaging	Het
Patz1	T	C	11: 3,244,562 (GRCm39)	V481A	unknown	Het
Pdlim5	A	G	3: 142,018,058 (GRCm39)	L179P	probably benign	Het
Pik3ap1	A	T	19: 41,296,967 (GRCm39)	V461D	probably damaging	Het
Polq	T	C	16: 36,848,176 (GRCm39)	V261A	probably damaging	Het
Ppm1a	G	A	12: 72,837,451 (GRCm39)	V333M	possibly damaging	Het
R3hcc1l	T	C	19: 42,552,671 (GRCm39)	L556P	probably benign	Het
Rabggta	G	A	14: 55,956,375 (GRCm39)	Q365*	probably null	Het
Ranbp9	T	C	13: 43,578,519 (GRCm39)	T185A	probably benign	Het
Rd3l	T	G	12: 111,945,913 (GRCm39)	N189H	probably damaging	Het
Rnf17	A	G	14: 56,722,636 (GRCm39)	T1066A	probably damaging	Het
Rnf213	G	A	11: 119,332,794 (GRCm39)	A2669T		Het
Ros1	T	A	10: 51,996,931 (GRCm39)	H1268L	probably benign	Het
Rps6ka4	G	T	19: 6,809,354 (GRCm39)	S433R	possibly damaging	Het
Ryr1	A	G	7: 28,759,092 (GRCm39)	L3362P	probably damaging	Het
Setd1b	A	T	5: 123,298,046 (GRCm39)	T1361S	unknown	Het
Setd2	T	C	9: 110,377,570 (GRCm39)	S462P	probably damaging	Het
Sgsm3	A	T	15: 80,890,935 (GRCm39)	Q132L	probably benign	Het
Slx1b	C	A	7: 126,291,698 (GRCm39)	R122L	probably damaging	Het
Sorbs2	A	T	8: 46,276,788 (GRCm39)	T1167S	probably benign	Het
Spdya	A	C	17: 71,869,513 (GRCm39)	T103P	probably damaging	Het
Stfa2	A	G	16: 36,228,638 (GRCm39)	S20P	probably benign	Het
Sulf1	A	G	1: 12,891,026 (GRCm39)	T400A	probably benign	Het
Tardbp	A	T	4: 148,709,751 (GRCm39)	D23E	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tgm1	C	T	14: 55,948,441 (GRCm39)	D237N	probably benign	Het
Tgs1	T	A	4: 3,585,964 (GRCm39)	N280K	probably benign	Het
Tmem198	A	T	1: 75,459,272 (GRCm39)	I76F	possibly damaging	Het
Trpv2	A	T	11: 62,475,385 (GRCm39)	Y266F	probably damaging	Het
Ttn	C	T	2: 76,569,845 (GRCm39)	G27016E	probably damaging	Het
Ttn	T	C	2: 76,781,824 (GRCm39)	E1074G	unknown	Het
Unc5b	A	T	10: 60,613,322 (GRCm39)	W305R	probably damaging	Het
Usp38	A	G	8: 81,741,164 (GRCm39)		probably benign	Het
Vmn1r79	A	G	7: 11,910,582 (GRCm39)	T155A	probably benign	Het
Vwce	G	A	19: 10,615,481 (GRCm39)	V121I	probably benign	Het
Wdr91	A	T	6: 34,865,961 (GRCm39)	D530E	probably benign	Het
Wnt4	A	G	4: 137,023,929 (GRCm39)	T299A	probably benign	Het
Yeats2	T	A	16: 20,047,491 (GRCm39)	Y1284*	probably null	Het
Zfp113	A	T	5: 138,148,888 (GRCm39)	Y85*	probably null	Het
Zfp184	A	G	13: 22,144,096 (GRCm39)	T601A	probably benign	Het
Zfp655	A	G	5: 145,180,442 (GRCm39)	E100G	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
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
X0019:Atp8a1	UTSW	5	67,906,484 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GCCTTGCAAAATATCAAAGGCC -3'
(R):5'- TGGGAGATGTTTGCACAGC -3'

Sequencing Primer
(F):5'- TATGCAGCTAGAGTCAAGCGCTC -3'
(R):5'- CAACCAGTAATGTGGCTGATCTCG -3'

Posted On

2022-11-14