Mutagenetix > Incidental Mutation

Incidental Mutation 'R9225:Atp11a'

699789

Institutional Source

Beutler Lab

Gene Symbol

Atp11a

Ensembl Gene

ENSMUSG00000031441

Gene Name

ATPase, class VI, type 11A

Synonyms

4930558F19Rik, LOC100045280, 9130422H11Rik, Ih

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12807016-12918728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12867005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 144 (R144Q)

Ref Sequence

ENSEMBL: ENSMUSP00000088779 (fasta)

Gene Model

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

AlphaFold

P98197

Predicted Effect

probably benign
Transcript: ENSMUST00000033818
AA Change: R144Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000033818
Gene: ENSMUSG00000031441
AA Change: R144Q

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
AA Change: R144Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000088779
Gene: ENSMUSG00000031441
AA Change: R144Q

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: ENSMUST00000133338
AA Change: R144Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000120625
Gene: ENSMUSG00000031441
AA Change: R144Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	T	5: 88,120,433 (GRCm39)	V397L	probably benign	Het
Adam26b	G	T	8: 43,973,453 (GRCm39)	Y516*	probably null	Het
Afap1	A	G	5: 36,133,968 (GRCm39)	K468E	possibly damaging	Het
Ank2	A	G	3: 126,736,111 (GRCm39)	S3258P	unknown	Het
Ap1g1	A	G	8: 110,585,509 (GRCm39)	K783E	probably benign	Het
Apbb1	A	G	7: 105,218,063 (GRCm39)	S20P		Het
Atg13	T	C	2: 91,519,128 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,188 (GRCm39)	V16A	probably benign	Het
Avpr1a	A	T	10: 122,285,466 (GRCm39)	T253S	probably benign	Het
B4galnt3	T	C	6: 120,195,928 (GRCm39)	T300A	probably damaging	Het
Bag4	A	G	8: 26,261,270 (GRCm39)	V157A	probably benign	Het
Brsk2	A	G	7: 141,547,039 (GRCm39)	H494R	probably damaging	Het
Cacna2d2	G	A	9: 107,403,403 (GRCm39)	G955S	probably benign	Het
Ccdc42	A	T	11: 68,479,061 (GRCm39)	E83V	probably damaging	Het
Cep120	T	C	18: 53,839,896 (GRCm39)	Q788R	probably benign	Het
Cnbd1	A	G	4: 18,907,010 (GRCm39)	I188T	probably benign	Het
Col6a6	C	T	9: 105,659,437 (GRCm39)	E503K	possibly damaging	Het
Cpt1c	A	T	7: 44,610,213 (GRCm39)	L661H	probably damaging	Het
Cyp2a22	T	C	7: 26,637,202 (GRCm39)	D194G	possibly damaging	Het
Cyp2c70	C	A	19: 40,168,912 (GRCm39)	R125L	probably damaging	Het
Cyp3a41a	A	T	5: 145,650,414 (GRCm39)	D76E	probably benign	Het
Cyp4f13	A	T	17: 33,144,319 (GRCm39)	I458N	probably damaging	Het
Cyp4f13	T	C	17: 33,148,175 (GRCm39)	Q350R	probably damaging	Het
Ddx60	G	A	8: 62,470,875 (GRCm39)	V1456I	probably benign	Het
Dgkh	T	C	14: 78,962,507 (GRCm39)	H8R	probably damaging	Het
Diaph3	A	G	14: 87,244,760 (GRCm39)		probably null	Het
Dnah8	A	C	17: 30,854,647 (GRCm39)	D103A	probably benign	Het
Dock4	G	A	12: 40,879,669 (GRCm39)	R1551Q	probably benign	Het
Eps8	A	T	6: 137,507,561 (GRCm39)	S56T	probably benign	Het
Fam171b	T	A	2: 83,710,386 (GRCm39)	L686Q	probably damaging	Het
Fndc3b	A	C	3: 27,510,680 (GRCm39)	L814*	probably null	Het
Gcnt2	T	A	13: 41,014,336 (GRCm39)	L169Q	probably damaging	Het
Gm21103	T	A	14: 17,484,877 (GRCm39)	I56F	possibly damaging	Het
Gpc1	A	T	1: 92,783,742 (GRCm39)	K276N	probably damaging	Het
Hivep1	T	A	13: 42,337,184 (GRCm39)	V2421D	probably damaging	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Ifi208	A	G	1: 173,518,294 (GRCm39)	D467G	possibly damaging	Het
Klhl22	A	G	16: 17,594,617 (GRCm39)	M249V	probably damaging	Het
Kmt2b	A	G	7: 30,286,172 (GRCm39)	V240A	unknown	Het
Lacc1	A	T	14: 77,272,414 (GRCm39)	Y127*	probably null	Het
Lgr4	C	A	2: 109,842,485 (GRCm39)	H823Q	probably benign	Het
Llgl1	T	C	11: 60,600,889 (GRCm39)	S662P	probably damaging	Het
Lrrc1	G	A	9: 77,359,955 (GRCm39)	T279I	probably benign	Het
Lrrc8e	T	A	8: 4,284,561 (GRCm39)	V262E	probably damaging	Het
Magi1	G	T	6: 93,762,511 (GRCm39)	P292T	possibly damaging	Het
Mccc1	T	A	3: 36,018,511 (GRCm39)	I608F	probably benign	Het
Mroh8	T	A	2: 157,107,010 (GRCm39)	I220L	probably damaging	Het
Mtcl3	A	T	10: 29,072,327 (GRCm39)	K540*	probably null	Het
Mycn	C	A	12: 12,987,609 (GRCm39)	D263Y	probably damaging	Het
Myrip	A	G	9: 120,293,850 (GRCm39)	K782E	probably damaging	Het
Ncoa6	T	A	2: 155,249,441 (GRCm39)	I1288F	possibly damaging	Het
Nebl	A	G	2: 17,405,322 (GRCm39)	I399T	possibly damaging	Het
Neurod1	A	T	2: 79,284,731 (GRCm39)	H217Q	probably benign	Het
Nlrp5	T	C	7: 23,117,371 (GRCm39)	V365A	probably benign	Het
Or1e1	C	A	11: 73,244,595 (GRCm39)	N5K	probably damaging	Het
Or2ag12	A	G	7: 106,276,976 (GRCm39)	V239A	probably benign	Het
Or5b100-ps1	G	C	19: 12,994,371 (GRCm39)	*261Y	probably null	Het
Or5b100-ps1	A	G	19: 12,994,370 (GRCm39)	*261W	probably null	Het
Otud7a	A	G	7: 63,407,469 (GRCm39)	T591A	possibly damaging	Het
Pbx3	T	C	2: 34,260,938 (GRCm39)		probably benign	Het
Pcdhb4	A	T	18: 37,441,695 (GRCm39)	Q335L	possibly damaging	Het
Plxnc1	C	A	10: 94,629,061 (GRCm39)	C1571F	probably damaging	Het
Pola2	G	A	19: 6,000,492 (GRCm39)	P330S	probably benign	Het
Ppm1l	A	T	3: 69,460,244 (GRCm39)	N274Y	probably benign	Het
Ppp4r3b	A	G	11: 29,155,648 (GRCm39)	D538G	possibly damaging	Het
Ptx4	C	T	17: 25,341,696 (GRCm39)	T57I	probably benign	Het
Rchy1	A	T	5: 92,105,396 (GRCm39)	C108*	probably null	Het
Rif1	A	G	2: 52,001,862 (GRCm39)	E130G	probably benign	Het
Rmdn1	A	T	4: 19,601,385 (GRCm39)	Y219F	probably damaging	Het
Rnf144a	A	G	12: 26,377,606 (GRCm39)	C46R	probably damaging	Het
Rpl13a	C	A	7: 44,775,627 (GRCm39)	G146V	probably damaging	Het
Rpl13a	C	A	7: 44,775,628 (GRCm39)	G146W	probably damaging	Het
Rtn3	A	T	19: 7,434,854 (GRCm39)	N379K	probably damaging	Het
Sdc1	G	T	12: 8,821,817 (GRCm39)	R19L	unknown	Het
Shank1	A	G	7: 43,983,470 (GRCm39)	I651V	unknown	Het
Slamf6	T	C	1: 171,764,270 (GRCm39)	V221A	probably benign	Het
Sp9	C	A	2: 73,103,839 (GRCm39)	S131*	probably null	Het
Spen	T	C	4: 141,202,943 (GRCm39)	T1895A	possibly damaging	Het
Taf6l	CGCAGCCGCACCTG	CG	19: 8,751,688 (GRCm39)		probably benign	Het
Thada	G	T	17: 84,749,172 (GRCm39)	H600N	possibly damaging	Het
Trmt11	G	T	10: 30,423,753 (GRCm39)	P384Q	probably damaging	Het
Tsnaxip1	T	C	8: 106,566,659 (GRCm39)	L165P	probably damaging	Het
Ttc7	A	G	17: 87,637,502 (GRCm39)	Y419C	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,560 (GRCm39)	F122S	probably benign	Het
Vmn1r218	G	A	13: 23,320,824 (GRCm39)	C57Y	probably benign	Het
Vmn2r14	T	C	5: 109,369,288 (GRCm39)	N95S	probably damaging	Het
Vmn2r2	G	T	3: 64,034,021 (GRCm39)	H500Q	probably benign	Het
Vmn2r70	T	A	7: 85,208,242 (GRCm39)	Y745F	probably damaging	Het
Zfp189	C	T	4: 49,530,193 (GRCm39)	S432F	probably benign	Het
Zscan2	C	T	7: 80,513,021 (GRCm39)	A2V	probably damaging	Het

Other mutations in Atp11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Atp11a	APN	8	12,894,609 (GRCm39)	missense	probably damaging	1.00
IGL01397:Atp11a	APN	8	12,862,321 (GRCm39)	missense	probably damaging	1.00
IGL01712:Atp11a	APN	8	12,901,138 (GRCm39)	missense	probably benign	0.11
IGL02113:Atp11a	APN	8	12,915,048 (GRCm39)	missense	probably benign
IGL02449:Atp11a	APN	8	12,807,358 (GRCm39)	splice site	probably null
IGL02550:Atp11a	APN	8	12,866,997 (GRCm39)	missense	possibly damaging	0.72
IGL03099:Atp11a	APN	8	12,877,462 (GRCm39)	missense	possibly damaging	0.52
R0139:Atp11a	UTSW	8	12,896,054 (GRCm39)	missense	probably benign	0.00
R0265:Atp11a	UTSW	8	12,906,930 (GRCm39)	splice site	probably benign
R0294:Atp11a	UTSW	8	12,877,524 (GRCm39)	missense	probably benign	0.03
R0331:Atp11a	UTSW	8	12,866,953 (GRCm39)	nonsense	probably null
R0582:Atp11a	UTSW	8	12,881,214 (GRCm39)	missense	probably benign	0.10
R1033:Atp11a	UTSW	8	12,878,555 (GRCm39)	missense	probably damaging	1.00
R1213:Atp11a	UTSW	8	12,892,859 (GRCm39)	missense	probably benign	0.04
R1551:Atp11a	UTSW	8	12,862,340 (GRCm39)	missense	probably damaging	1.00
R1648:Atp11a	UTSW	8	12,897,495 (GRCm39)	missense	probably damaging	1.00
R1752:Atp11a	UTSW	8	12,863,094 (GRCm39)	missense	probably damaging	1.00
R1826:Atp11a	UTSW	8	12,896,154 (GRCm39)	missense	probably damaging	1.00
R1887:Atp11a	UTSW	8	12,862,324 (GRCm39)	missense	probably damaging	1.00
R2079:Atp11a	UTSW	8	12,907,902 (GRCm39)	missense	probably damaging	1.00
R2106:Atp11a	UTSW	8	12,885,228 (GRCm39)	missense	probably benign
R2319:Atp11a	UTSW	8	12,897,505 (GRCm39)	missense	probably damaging	1.00
R2966:Atp11a	UTSW	8	12,897,853 (GRCm39)	splice site	probably null
R4021:Atp11a	UTSW	8	12,892,938 (GRCm39)	missense	probably benign	0.01
R4183:Atp11a	UTSW	8	12,866,990 (GRCm39)	missense	possibly damaging	0.94
R4640:Atp11a	UTSW	8	12,878,434 (GRCm39)	splice site	probably benign
R4705:Atp11a	UTSW	8	12,863,118 (GRCm39)	missense	probably damaging	1.00
R5354:Atp11a	UTSW	8	12,856,753 (GRCm39)	missense	probably damaging	1.00
R5777:Atp11a	UTSW	8	12,882,522 (GRCm39)	missense	probably damaging	0.99
R6152:Atp11a	UTSW	8	12,896,100 (GRCm39)	missense	probably damaging	0.97
R6171:Atp11a	UTSW	8	12,882,663 (GRCm39)	missense	probably damaging	1.00
R6197:Atp11a	UTSW	8	12,896,099 (GRCm39)	missense	probably benign	0.01
R6335:Atp11a	UTSW	8	12,909,481 (GRCm39)	critical splice donor site	probably null
R6526:Atp11a	UTSW	8	12,914,999 (GRCm39)	missense	probably benign
R6792:Atp11a	UTSW	8	12,911,939 (GRCm39)	unclassified	probably benign
R6923:Atp11a	UTSW	8	12,906,949 (GRCm39)	missense	probably damaging	0.99
R6959:Atp11a	UTSW	8	12,870,467 (GRCm39)	missense	probably damaging	1.00
R7297:Atp11a	UTSW	8	12,856,774 (GRCm39)	critical splice donor site	probably null
R7499:Atp11a	UTSW	8	12,882,575 (GRCm39)	missense	probably benign	0.01
R7606:Atp11a	UTSW	8	12,894,427 (GRCm39)	missense	probably damaging	1.00
R7844:Atp11a	UTSW	8	12,901,039 (GRCm39)	missense	possibly damaging	0.68
R8099:Atp11a	UTSW	8	12,911,973 (GRCm39)	missense
R8479:Atp11a	UTSW	8	12,892,932 (GRCm39)	missense	possibly damaging	0.94
R8546:Atp11a	UTSW	8	12,901,083 (GRCm39)	missense	probably damaging	1.00
R8803:Atp11a	UTSW	8	12,875,721 (GRCm39)	missense	probably benign	0.18
R8896:Atp11a	UTSW	8	12,899,781 (GRCm39)	missense	probably damaging	1.00
R9047:Atp11a	UTSW	8	12,878,483 (GRCm39)	missense	probably damaging	1.00
R9135:Atp11a	UTSW	8	12,863,144 (GRCm39)	missense	probably damaging	1.00
R9483:Atp11a	UTSW	8	12,901,087 (GRCm39)	missense	probably damaging	0.98
R9492:Atp11a	UTSW	8	12,894,490 (GRCm39)	missense	probably damaging	1.00
R9674:Atp11a	UTSW	8	12,877,525 (GRCm39)	missense	probably benign	0.00
R9679:Atp11a	UTSW	8	12,909,388 (GRCm39)	missense	possibly damaging	0.73
X0017:Atp11a	UTSW	8	12,876,323 (GRCm39)	critical splice acceptor site	probably null
X0022:Atp11a	UTSW	8	12,897,794 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGTGTGAGAATGTCCAGC -3'
(R):5'- GCCTTCAATCATCAGTACAGGC -3'

Sequencing Primer
(F):5'- TCCAGCTATAAGGACCAGGGAGTC -3'
(R):5'- TTCAATCATCAGTACAGGCAGAAAG -3'

Posted On

2022-02-07