Mutagenetix > Incidental Mutations

Incidental Mutation 'R6959:Atp11a'

541650

Institutional Source

Beutler Lab

Gene Symbol

Atp11a

Ensembl Gene

ENSMUSG00000031441

Gene Name

ATPase, class VI, type 11A

Synonyms

Ih, 4930558F19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6959 (G1)

Quality Score

178.009

Status

Validated

Chromosome

Chromosomal Location

12757014-12868728 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12820467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 173 (D173E)

Ref Sequence

ENSEMBL: ENSMUSP00000120625 (fasta)

Gene Model

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

AlphaFold

P98197

Predicted Effect

probably damaging
Transcript: ENSMUST00000033818
AA Change: D173E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033818
Gene: ENSMUSG00000031441
AA Change: D173E

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 damaging
Transcript: ENSMUST00000091237
AA Change: D173E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088779
Gene: ENSMUSG00000031441
AA Change: D173E

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 damaging
Transcript: ENSMUST00000133338
AA Change: D173E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120625
Gene: ENSMUSG00000031441
AA Change: D173E

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

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	G	A	11: 70,616,659	G177R	probably damaging	Het
4932438A13Rik	T	G	3: 36,967,189	V2154G	probably damaging	Het
Arhgef12	T	C	9: 43,015,953	T292A	probably benign	Het
Btnl2	G	A	17: 34,363,359	V300M	possibly damaging	Het
Calcrl	A	T	2: 84,370,084	N117K	possibly damaging	Het
Ccl22	A	T	8: 94,746,900		probably null	Het
Cd200r1	T	A	16: 44,790,176	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,360,669		probably null	Het
Cfap157	A	G	2: 32,784,248	I47T	probably damaging	Het
Chodl	G	A	16: 78,946,684	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cstf3	A	G	2: 104,649,462	T225A	probably benign	Het
Duoxa1	T	C	2: 122,303,837	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,499,587	S164N	probably benign	Het
Fam126a	T	C	5: 23,991,756	I45V	possibly damaging	Het
Fat3	T	C	9: 15,996,885	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,999,219	D277G	probably benign	Het
Galnt6	A	G	15: 100,714,125	I212T	probably damaging	Het
Gatsl2	T	C	5: 134,135,213	S83P	probably damaging	Het
Gm45861	T	C	8: 27,548,185		probably null	Het
Gm5478	T	C	15: 101,645,448	D243G	probably damaging	Het
Gm6657	A	G	12: 78,202,296	K139E	probably damaging	Het
Gm7682	T	A	5: 94,447,032	N250K	possibly damaging	Het
Gse1	A	G	8: 120,570,971		probably benign	Het
Hspg2	A	T	4: 137,519,289	Q1096L	probably benign	Het
Idh3b	A	G	2: 130,281,527	V181A	probably damaging	Het
Igf2bp3	T	C	6: 49,117,148		probably null	Het
Ikzf2	A	G	1: 69,538,770	*382Q	probably null	Het
Impg2	A	C	16: 56,268,330	H1073P	probably benign	Het
Incenp	T	C	19: 9,876,770	E639G	unknown	Het
Kcne4	A	G	1: 78,817,886	M84V	probably benign	Het
Ktn1	T	A	14: 47,720,256	F1004I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Malrd1	A	G	2: 16,218,009	I2040V	probably damaging	Het
Mau2	T	C	8: 70,033,228	D110G	probably damaging	Het
Mei1	T	C	15: 82,124,875	V1237A	probably benign	Het
Mfsd11	T	G	11: 116,861,669		probably null	Het
Ncapd2	A	G	6: 125,168,920	F1293L	probably benign	Het
Nf1	A	G	11: 79,549,468	T280A	probably damaging	Het
Obscn	G	T	11: 59,037,585	A6085E	probably damaging	Het
Olfr623	T	A	7: 103,660,843	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,907	A1381T	probably benign	Het
Ralgapa2	A	G	2: 146,342,701	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,470,962	C56*	probably null	Het
Reln	A	G	5: 21,976,564	S1774P	probably damaging	Het
Ros1	T	A	10: 52,163,994	E300D	probably damaging	Het
Sarnp	T	C	10: 128,848,268	V111A	possibly damaging	Het
Scube1	G	T	15: 83,629,435	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,826,044		probably null	Het
Slc37a2	T	A	9: 37,241,334	T64S	probably benign	Het
Slit2	A	G	5: 48,238,385	D710G	possibly damaging	Het
Srp72	T	A	5: 76,994,223	Y375N	possibly damaging	Het
Tmco4	T	A	4: 139,010,499	V135D	probably damaging	Het
Trim62	A	G	4: 128,909,162	D335G	probably damaging	Het
Tsfm	T	C	10: 127,022,909	M196V	probably benign	Het
Tspan10	T	A	11: 120,444,696	C211S	probably damaging	Het
Ttc21b	A	T	2: 66,231,312	M498K	probably benign	Het
Ttc6	A	T	12: 57,658,142		probably null	Het
Ttll1	G	T	15: 83,502,196	Y69*	probably null	Het
Usp28	T	A	9: 49,001,542	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,446,531	S739P	probably damaging	Het
Wdr64	T	A	1: 175,705,989	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,396,280		probably null	Het
Zfr	T	C	15: 12,150,323	S459P	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
R0265:Atp11a	UTSW	8	12856930	splice site	probably benign
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
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
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'- GCATTGTGGCACTGTAGAGG -3'
(R):5'- GTGTCTGCTCACTTCATTAAGGG -3'

Sequencing Primer
(F):5'- GATACAGTAGGAGAGAAAATTCCAGC -3'
(R):5'- CTGCTCACTTCATTAAGGGAAGAAAG -3'

Posted On

2018-11-28