Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Atp11a'

34853

Institutional Source

Beutler Lab

Gene Symbol

Atp11a

Ensembl Gene

ENSMUSG00000031441

Gene Name

ATPase, class VI, type 11A

Synonyms

Ih, 4930558F19Rik

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0265 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12757014-12868728 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 12856930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033818] [ENSMUST00000091237] [ENSMUST00000132974] [ENSMUST00000133338]

AlphaFold

P98197

Predicted Effect

probably benign
Transcript: ENSMUST00000033818

SMART Domains

Protein: ENSMUSP00000033818
Gene: ENSMUSG00000031441

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	25	96	3.6e-26	PFAM
Pfam:E1-E2_ATPase	101	377	1.1e-12	PFAM
low complexity region	382	393	N/A	INTRINSIC
Pfam:HAD	411	837	9.9e-21	PFAM
Pfam:Cation_ATPase	476	589	2.5e-11	PFAM
Pfam:PhoLip_ATPase_C	854	1106	2e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091237

SMART Domains

Protein: ENSMUSP00000088779
Gene: ENSMUSG00000031441

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	25	96	7.3e-26	PFAM
Pfam:E1-E2_ATPase	101	377	2.7e-12	PFAM
low complexity region	382	393	N/A	INTRINSIC
Pfam:HAD	411	837	1.9e-20	PFAM
Pfam:Cation_ATPase	476	589	7.4e-11	PFAM
Pfam:PhoLip_ATPase_C	854	1106	4.5e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131804

SMART Domains

Protein: ENSMUSP00000121567
Gene: ENSMUSG00000031441

Domain	Start	End	E-Value	Type
SCOP:d1eula_	6	53	1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132974

SMART Domains

Protein: ENSMUSP00000117091
Gene: ENSMUSG00000031441

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_like2	1	42	2.6e-8	PFAM
Pfam:HAD	17	290	4.1e-14	PFAM
Pfam:Hydrolase	20	293	7.7e-13	PFAM
transmembrane domain	420	442	N/A	INTRINSIC
transmembrane domain	454	476	N/A	INTRINSIC
transmembrane domain	491	513	N/A	INTRINSIC
transmembrane domain	520	542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133338

SMART Domains

Protein: ENSMUSP00000120625
Gene: ENSMUSG00000031441

Domain	Start	End	E-Value	Type
Pfam:E1-E2_ATPase	99	291	7.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139545

Predicted Effect

probably benign
Transcript: ENSMUST00000143359

SMART Domains

Protein: ENSMUSP00000114312
Gene: ENSMUSG00000031441

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_C	1	98	2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145372

Predicted Effect

probably benign
Transcript: ENSMUST00000152273

SMART Domains

Protein: ENSMUSP00000121989
Gene: ENSMUSG00000031441

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_C	1	157	1.7e-43	PFAM

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	G	14: 8,431,667	Y655S	probably damaging	Het
9330182L06Rik	T	C	5: 9,434,681	L486P	probably damaging	Het
Abca14	A	G	7: 120,223,627	I321V	probably benign	Het
Adcy7	A	G	8: 88,324,763	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,640,076	Y457*	probably null	Het
Alox5	T	C	6: 116,420,362	Y287C	probably benign	Het
Ano8	T	C	8: 71,480,524		probably benign	Het
Ap3b1	A	G	13: 94,493,681	K815E	unknown	Het
Atp6v0a1	A	T	11: 101,048,515	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,761,844	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,921,811	A39G	probably benign	Het
Cdhr1	A	T	14: 37,081,376	V581D	probably benign	Het
Cyp2b23	A	G	7: 26,672,879		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,624,287		probably benign	Het
Dnah8	A	T	17: 30,690,271	I1024F	probably benign	Het
Edc3	T	A	9: 57,727,338	F213I	probably damaging	Het
Edrf1	G	A	7: 133,657,045	D717N	probably damaging	Het
Efna5	G	A	17: 62,651,073	P63S	probably damaging	Het
Entpd3	A	G	9: 120,558,481	Y248C	probably damaging	Het
Flcn	G	A	11: 59,795,809	Q373*	probably null	Het
Fry	T	C	5: 150,434,776	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,381,617	Y58*	probably null	Het
Gabrp	A	T	11: 33,552,614	Y417N	probably damaging	Het
Golga2	C	A	2: 32,304,952		probably null	Het
Grip2	C	A	6: 91,773,792		probably null	Het
Gsx2	A	G	5: 75,077,068	Y227C	probably damaging	Het
Hif3a	T	C	7: 17,035,868	*665W	probably null	Het
Hist1h2aa	T	C	13: 23,934,649	V63A	probably benign	Het
Hsd3b1	C	A	3: 98,852,773	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,950,008		probably benign	Het
Inpp4a	A	T	1: 37,378,986	D498V	probably damaging	Het
Itga1	A	T	13: 114,992,459	D554E	probably benign	Het
Itk	G	A	11: 46,389,458		probably benign	Het
Kdm3b	T	A	18: 34,795,663		probably benign	Het
Klhl6	A	G	16: 19,948,234	V470A	probably benign	Het
Lamb3	T	A	1: 193,320,531	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,410,242	I41N	probably damaging	Het
Lrp4	A	T	2: 91,490,670	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,785,969		probably null	Het
Map3k19	A	G	1: 127,822,182	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,635,163		probably benign	Het
Mocos	A	G	18: 24,666,276	D189G	probably benign	Het
Mvb12a	T	A	8: 71,547,010	F224L	probably damaging	Het
Myo15	A	T	11: 60,514,897		probably null	Het
Nos2	A	T	11: 78,937,602	H249L	probably damaging	Het
Notum	A	G	11: 120,658,334	M184T	probably benign	Het
Nvl	C	A	1: 181,134,830	D192Y	probably damaging	Het
Olfr1024	T	A	2: 85,904,247	N269I	probably benign	Het
Olfr1065	C	A	2: 86,445,959	V8L	probably benign	Het
Olfr1308	T	C	2: 111,960,494	Y193C	probably damaging	Het
Olfr204	A	T	16: 59,315,071	F112Y	probably damaging	Het
Olfr218	A	G	1: 173,203,917	K187R	probably benign	Het
Osgin1	A	G	8: 119,445,657	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,424	V123A	probably damaging	Het
P4ha1	A	G	10: 59,348,259	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,821,350	D559V	probably damaging	Het
Phf2	T	C	13: 48,828,794	N151S	unknown	Het
Plxnc1	C	A	10: 94,813,129	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,924,197	*338Q	probably null	Het
Raver1	A	G	9: 21,075,659	S676P	probably benign	Het
Rfx8	T	C	1: 39,688,577	E196G	possibly damaging	Het
Rreb1	A	T	13: 37,916,155	K187*	probably null	Het
Rxfp1	T	C	3: 79,667,654	T217A	probably benign	Het
Rxra	T	C	2: 27,752,430	L305P	probably damaging	Het
Sardh	T	C	2: 27,227,066		probably benign	Het
Skor2	A	T	18: 76,876,598	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,169,970	S343T	probably benign	Het
Sorbs2	T	C	8: 45,785,337		probably benign	Het
Supt7l	C	T	5: 31,515,918	V329I	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165		probably benign	Het
Tcn2	A	T	11: 3,922,044	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,697,834	A170T	possibly damaging	Het
Tnks	G	A	8: 34,839,970	R1142*	probably null	Het
Ttll7	C	A	3: 146,944,160	Y648*	probably null	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Upf2	G	A	2: 6,027,204		probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Washc5	A	G	15: 59,338,960	I1013T	probably benign	Het
Wdr60	T	C	12: 116,257,406		probably benign	Het
Zfp704	C	A	3: 9,565,157	R48L	probably damaging	Het

Other mutations in Atp11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Atp11a	APN	8	12844609	missense	probably damaging	1.00
IGL01397:Atp11a	APN	8	12812321	missense	probably damaging	1.00
IGL01712:Atp11a	APN	8	12851138	missense	probably benign	0.11
IGL02113:Atp11a	APN	8	12865048	missense	probably benign
IGL02449:Atp11a	APN	8	12757358	splice site	probably null
IGL02550:Atp11a	APN	8	12816997	missense	possibly damaging	0.72
IGL03099:Atp11a	APN	8	12827462	missense	possibly damaging	0.52
R0139:Atp11a	UTSW	8	12846054	missense	probably benign	0.00
R0294:Atp11a	UTSW	8	12827524	missense	probably benign	0.03
R0331:Atp11a	UTSW	8	12816953	nonsense	probably null
R0582:Atp11a	UTSW	8	12831214	missense	probably benign	0.10
R1033:Atp11a	UTSW	8	12828555	missense	probably damaging	1.00
R1213:Atp11a	UTSW	8	12842859	missense	probably benign	0.04
R1551:Atp11a	UTSW	8	12812340	missense	probably damaging	1.00
R1648:Atp11a	UTSW	8	12847495	missense	probably damaging	1.00
R1752:Atp11a	UTSW	8	12813094	missense	probably damaging	1.00
R1826:Atp11a	UTSW	8	12846154	missense	probably damaging	1.00
R1887:Atp11a	UTSW	8	12812324	missense	probably damaging	1.00
R2079:Atp11a	UTSW	8	12857902	missense	probably damaging	1.00
R2106:Atp11a	UTSW	8	12835228	missense	probably benign
R2319:Atp11a	UTSW	8	12847505	missense	probably damaging	1.00
R2966:Atp11a	UTSW	8	12847853	splice site	probably null
R4021:Atp11a	UTSW	8	12842938	missense	probably benign	0.01
R4183:Atp11a	UTSW	8	12816990	missense	possibly damaging	0.94
R4640:Atp11a	UTSW	8	12828434	splice site	probably benign
R4705:Atp11a	UTSW	8	12813118	missense	probably damaging	1.00
R5354:Atp11a	UTSW	8	12806753	missense	probably damaging	1.00
R5777:Atp11a	UTSW	8	12832522	missense	probably damaging	0.99
R6152:Atp11a	UTSW	8	12846100	missense	probably damaging	0.97
R6171:Atp11a	UTSW	8	12832663	missense	probably damaging	1.00
R6197:Atp11a	UTSW	8	12846099	missense	probably benign	0.01
R6335:Atp11a	UTSW	8	12859481	critical splice donor site	probably null
R6526:Atp11a	UTSW	8	12864999	missense	probably benign
R6792:Atp11a	UTSW	8	12861939	unclassified	probably benign
R6923:Atp11a	UTSW	8	12856949	missense	probably damaging	0.99
R6959:Atp11a	UTSW	8	12820467	missense	probably damaging	1.00
R7297:Atp11a	UTSW	8	12806774	critical splice donor site	probably null
R7499:Atp11a	UTSW	8	12832575	missense	probably benign	0.01
R7606:Atp11a	UTSW	8	12844427	missense	probably damaging	1.00
R7844:Atp11a	UTSW	8	12851039	missense	possibly damaging	0.68
R8099:Atp11a	UTSW	8	12861973	missense
R8479:Atp11a	UTSW	8	12842932	missense	possibly damaging	0.94
R8546:Atp11a	UTSW	8	12851083	missense	probably damaging	1.00
R8803:Atp11a	UTSW	8	12825721	missense	probably benign	0.18
R8896:Atp11a	UTSW	8	12849781	missense	probably damaging	1.00
R9047:Atp11a	UTSW	8	12828483	missense	probably damaging	1.00
R9135:Atp11a	UTSW	8	12813144	missense	probably damaging	1.00
R9225:Atp11a	UTSW	8	12817005	missense	probably benign	0.01
R9483:Atp11a	UTSW	8	12851087	missense	probably damaging	0.98
R9492:Atp11a	UTSW	8	12844490	missense	probably damaging	1.00
R9674:Atp11a	UTSW	8	12827525	missense	probably benign	0.00
R9679:Atp11a	UTSW	8	12859388	missense	possibly damaging	0.73
X0017:Atp11a	UTSW	8	12826323	critical splice acceptor site	probably null
X0022:Atp11a	UTSW	8	12847794	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCAGACCAGCAGGACACTACTAC -3'
(R):5'- ACTCGCTGGGACCTGGATATGAAC -3'

Sequencing Primer
(F):5'- TACTACATCCTTGACCCAGGC -3'
(R):5'- CTGGGACCTGGATATGAACTGAAG -3'

Posted On

2013-05-09