Mutagenetix > Incidental Mutations

Incidental Mutation 'R6341:Atp8a1'

514376

Institutional Source

Beutler Lab

Gene Symbol

Atp8a1

Ensembl Gene

ENSMUSG00000037685

Gene Name

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

Synonyms

B230107D19Rik, Atp3a2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67618140-67847434 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67682927 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 704 (T704A)

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: T719A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: T719A

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: T719A

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: T719A

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

possibly damaging
Transcript: ENSMUST00000135930
AA Change: T704A

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: T704A

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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 31,105,546	D658G	possibly damaging	Het
Amz2	A	G	11: 109,428,827	H13R	probably benign	Het
Ankrd27	G	T	7: 35,627,403		probably null	Het
Cabin1	A	T	10: 75,658,739	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,648,114	S105P	probably damaging	Het
Cdh26	T	A	2: 178,471,573		probably null	Het
Cxcl10	T	C	5: 92,348,213	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,712,489	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,204,251	D594E	probably benign	Het
Ddx5	T	C	11: 106,785,542		probably null	Het
Ddx58	T	A	4: 40,222,199		probably null	Het
Duox1	T	C	2: 122,337,721	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,946,284		probably null	Het
Ecel1	A	G	1: 87,150,471		probably null	Het
Efcab6	T	G	15: 83,935,938	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,777,998	L464P	possibly damaging	Het
Fam129c	C	T	8: 71,600,077	P65L	probably damaging	Het
Fam234a	T	A	17: 26,213,693	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,088,145	V694A	probably damaging	Het
Gli2	T	C	1: 118,836,224	D1399G	probably damaging	Het
Gm10110	T	C	14: 89,896,708		noncoding transcript	Het
Hdac3	A	G	18: 37,944,164	L219P	probably damaging	Het
Hlcs	A	G	16: 94,231,163	F52S	probably damaging	Het
Ints7	C	A	1: 191,613,127	T643K	probably damaging	Het
Ireb2	A	G	9: 54,908,780	I878M	probably damaging	Het
Itga3	A	T	11: 95,055,851		probably null	Het
Lrfn5	T	A	12: 61,843,582	Y552*	probably null	Het
Mafb	T	C	2: 160,366,451	T76A	probably damaging	Het
Man2b1	A	T	8: 85,095,399	S748C	probably damaging	Het
Mmp15	G	T	8: 95,365,463		probably null	Het
Mmp17	A	T	5: 129,601,955	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,801,492	D1005V	probably damaging	Het
Myh3	T	C	11: 67,082,996	F165S	probably benign	Het
Nacc1	T	C	8: 84,674,791	D419G	probably benign	Het
Neb	G	A	2: 52,209,474	S4545L	probably damaging	Het
Npas2	T	C	1: 39,300,687	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr1448	T	C	19: 12,919,479	T277A	probably benign	Het
Pde4dip	T	A	3: 97,694,911	Q2283L	probably benign	Het
Phax	C	T	18: 56,573,101	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,102,829	K79*	probably null	Het
Pkd1	T	A	17: 24,580,227	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,541,148	R427C	probably damaging	Het
Ptprj	A	T	2: 90,458,349	F757L	probably benign	Het
Rad1	A	G	15: 10,492,821	D208G	probably damaging	Het
Rangrf	T	A	11: 68,972,712	N156I	probably benign	Het
Rasl11b	T	C	5: 74,198,376	S181P	probably damaging	Het
Rlf	G	A	4: 121,149,360	Q808*	probably null	Het
Rogdi	G	T	16: 5,013,377		probably null	Het
Sec24a	A	T	11: 51,717,776	V573D	probably damaging	Het
Sorbs2	A	G	8: 45,770,578	T200A	probably damaging	Het
Srgap2	C	T	1: 131,291,629	R259H	probably benign	Het
Ssc5d	T	A	7: 4,936,665	V700E	probably benign	Het
Stt3a	A	T	9: 36,751,296	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,597,259	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,490,048	R421H	probably damaging	Het
Top3b	T	C	16: 16,879,071	M62T	probably damaging	Het
Trhr	T	G	15: 44,229,298	Y310*	probably null	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Usp34	A	G	11: 23,381,353	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,929,066	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,472,010	M290K	probably benign	Het
Wdr75	T	C	1: 45,802,131		probably null	Het
Wnk1	A	T	6: 119,948,585	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,670,778	T191A	probably benign	Het
Zc3h15	A	G	2: 83,661,223	E265G	probably benign	Het
Zcchc9	A	G	13: 91,800,697	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,854,137	H247R	probably damaging	Het
Zfp433	A	G	10: 81,720,123	E152G	probably damaging	Het
Zfp770	A	T	2: 114,196,759	S276R	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
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
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
R9015:Atp8a1	UTSW	5	67729907	missense
R9052:Atp8a1	UTSW	5	67778958	critical splice donor site	probably null
R9086:Atp8a1	UTSW	5	67774816	missense
X0019:Atp8a1	UTSW	5	67749141	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GGAGAACTTACCTGCAGCAAATG -3'
(R):5'- CCCTGCTATGGACAGCTATAG -3'

Sequencing Primer
(F):5'- TGCAGCAAATGACAGCTTTGC -3'
(R):5'- AGAACTGATAGCCTTCTCAGTCC -3'

Posted On

2018-04-27