Mutagenetix > Incidental Mutation

Incidental Mutation 'R4705:Atp11a'

355123

Institutional Source

Beutler Lab

Gene Symbol

Atp11a

Ensembl Gene

ENSMUSG00000031441

Gene Name

ATPase, class VI, type 11A

Synonyms

4930558F19Rik, LOC100045280, 9130422H11Rik, Ih

MMRRC Submission

041953-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4705 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12807016-12918728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 12863118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 99 (P99R)

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: P99R

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

SMART Domains

Protein: ENSMUSP00000033818
Gene: ENSMUSG00000031441
AA Change: P99R

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: P99R

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

SMART Domains

Protein: ENSMUSP00000088779
Gene: ENSMUSG00000031441
AA Change: P99R

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

noncoding transcript
Transcript: ENSMUST00000125031

Predicted Effect

probably damaging
Transcript: ENSMUST00000133338
AA Change: P99R

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

SMART Domains

Protein: ENSMUSP00000120625
Gene: ENSMUSG00000031441
AA Change: P99R

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

Meta Mutation Damage Score

0.9641

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

96% (113/118)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,369 (GRCm39)	V230A	possibly damaging	Het
2010315B03Rik	T	C	9: 124,056,631 (GRCm39)	T123A	possibly damaging	Het
Abca4	T	C	3: 121,899,019 (GRCm39)	V667A	probably damaging	Het
Abcb5	A	G	12: 118,929,040 (GRCm39)	S4P	possibly damaging	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Ahnak	C	A	19: 8,994,270 (GRCm39)	H5185N	probably benign	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
Atf7ip	C	T	6: 136,538,192 (GRCm39)	P483L	probably damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
Bag6	C	A	17: 35,361,319 (GRCm39)	P476H	probably damaging	Het
Bltp1	C	T	3: 37,096,038 (GRCm39)	T1108I	probably benign	Het
C2cd3	A	G	7: 100,044,395 (GRCm39)	K326E	possibly damaging	Het
Casp1	A	G	9: 5,306,204 (GRCm39)	D363G	probably damaging	Het
Ccdc33	G	T	9: 58,024,840 (GRCm39)	Q129K	probably benign	Het
Ccdc88a	T	C	11: 29,372,586 (GRCm39)	I107T	probably benign	Het
Cela2a	T	C	4: 141,548,722 (GRCm39)	N138S	probably benign	Het
Cfap61	A	C	2: 145,877,122 (GRCm39)	R460S	probably damaging	Het
Clstn2	T	C	9: 97,345,612 (GRCm39)	N579D	possibly damaging	Het
Col13a1	C	A	10: 61,685,944 (GRCm39)	G683W	unknown	Het
Col4a2	G	A	8: 11,363,504 (GRCm39)	R14Q	possibly damaging	Het
Cpa6	A	G	1: 10,551,283 (GRCm39)	S164P	probably benign	Het
Cpq	A	G	15: 33,497,484 (GRCm39)	N408S	probably benign	Het
Ctnnal1	T	C	4: 56,812,579 (GRCm39)	T690A	probably benign	Het
Cx3cl1	A	T	8: 95,506,835 (GRCm39)	N280I	probably benign	Het
Cyp2b19	C	T	7: 26,456,717 (GRCm39)	R36C	probably benign	Het
Ddx51	T	C	5: 110,803,174 (GRCm39)	V269A	probably damaging	Het
Dipk2a	T	C	9: 94,402,688 (GRCm39)	N325D	possibly damaging	Het
Dlst	G	T	12: 85,165,616 (GRCm39)		probably null	Het
Dmkn	G	C	7: 30,463,406 (GRCm39)	A20P	probably damaging	Het
Dnhd1	T	C	7: 105,304,948 (GRCm39)	I330T	probably damaging	Het
Dock3	G	A	9: 106,902,535 (GRCm39)	H292Y	probably damaging	Het
Ell	A	G	8: 71,031,584 (GRCm39)	D94G	possibly damaging	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Fam3d	T	C	14: 8,349,347 (GRCm38)	E201G	probably benign	Het
Fcgbp	A	G	7: 27,806,721 (GRCm39)	K2230E	probably benign	Het
Frmd5	G	T	2: 121,393,344 (GRCm39)		probably benign	Het
Gas2l1	G	A	11: 5,010,867 (GRCm39)	S654L	possibly damaging	Het
Gltpd2	G	T	11: 70,410,966 (GRCm39)	E86*	probably null	Het
Glyat	T	C	19: 12,628,661 (GRCm39)	L152P	possibly damaging	Het
Gm17330	T	C	12: 24,018,783 (GRCm39)	T22A	probably damaging	Het
Gm9931	T	A	1: 147,157,591 (GRCm39)		noncoding transcript	Het
Gpatch1	A	T	7: 34,998,730 (GRCm39)		probably null	Het
Gpr4	T	C	7: 18,956,819 (GRCm39)	L247P	probably damaging	Het
Gtpbp3	G	A	8: 71,943,758 (GRCm39)	E214K	probably benign	Het
Hdac7	G	T	15: 97,709,468 (GRCm39)	Q21K	probably damaging	Het
Hivep3	A	G	4: 119,729,247 (GRCm39)		probably benign	Het
Hk2	C	T	6: 82,716,631 (GRCm39)	M300I	possibly damaging	Het
Ighv1-61	T	C	12: 115,322,899 (GRCm39)	Y71C	probably damaging	Het
Il36b	T	C	2: 24,044,630 (GRCm39)	V10A	probably benign	Het
Inpp5f	G	T	7: 128,265,711 (GRCm39)	S152I	probably damaging	Het
Jag1	C	A	2: 136,938,229 (GRCm39)	W257L	probably damaging	Het
Jak2	T	A	19: 29,272,315 (GRCm39)	N612K	possibly damaging	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kbtbd6	A	G	14: 79,690,046 (GRCm39)	D247G	probably benign	Het
Kif15	A	G	9: 122,789,058 (GRCm39)		probably null	Het
Kndc1	A	G	7: 139,510,036 (GRCm39)	T1293A	possibly damaging	Het
Lpar5	T	C	6: 125,059,170 (GRCm39)	I297T	possibly damaging	Het
Lpin2	T	A	17: 71,539,138 (GRCm39)		probably benign	Het
Lypd10	T	A	7: 24,412,934 (GRCm39)	L114Q	probably damaging	Het
Mfsd4a	A	T	1: 131,981,309 (GRCm39)	L230Q	probably damaging	Het
Mmp8	T	C	9: 7,565,550 (GRCm39)	V313A	probably benign	Het
Mrpl19	A	T	6: 81,941,266 (GRCm39)	D98E	probably damaging	Het
Mybl1	A	G	1: 9,760,340 (GRCm39)	I86T	probably damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Necab1	T	C	4: 15,052,628 (GRCm39)	T117A	probably damaging	Het
Nol11	A	G	11: 107,075,544 (GRCm39)		probably benign	Het
Nucb2	G	A	7: 116,139,262 (GRCm39)		probably null	Het
Nup58	G	T	14: 60,488,664 (GRCm39)	P19T	unknown	Het
Odf2	T	A	2: 29,794,046 (GRCm39)	L301Q	probably damaging	Het
Oog4	T	C	4: 143,165,445 (GRCm39)	Y234C	probably benign	Het
Or11j4	A	G	14: 50,630,257 (GRCm39)	I15V	probably benign	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Papln	T	C	12: 83,823,982 (GRCm39)		probably null	Het
Paqr6	C	T	3: 88,273,236 (GRCm39)	A76V	probably benign	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pdzd8	T	C	19: 59,333,743 (GRCm39)	T93A	possibly damaging	Het
Pkdrej	A	T	15: 85,705,368 (GRCm39)	Y189*	probably null	Het
Pknox2	A	T	9: 36,834,934 (GRCm39)	N178K	possibly damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Plxnd1	A	C	6: 115,935,581 (GRCm39)	L1735R	probably damaging	Het
Polm	T	A	11: 5,787,663 (GRCm39)	D30V	possibly damaging	Het
Rap1gap2	T	A	11: 74,328,265 (GRCm39)	I100F	probably damaging	Het
Rasgef1c	T	A	11: 49,869,294 (GRCm39)	W414R	probably benign	Het
Rassf1	A	G	9: 107,435,066 (GRCm39)	D187G	probably benign	Het
Rhag	T	C	17: 41,147,329 (GRCm39)	I397T	probably benign	Het
Rnft2	A	G	5: 118,366,928 (GRCm39)	F269S	probably damaging	Het
Rnmt	T	C	18: 68,447,196 (GRCm39)	F360S	probably damaging	Het
Ror2	C	T	13: 53,271,333 (GRCm39)	A329T	probably benign	Het
Slc4a1	T	A	11: 102,247,084 (GRCm39)	N501I	possibly damaging	Het
Slc4a7	T	A	14: 14,733,856 (GRCm38)	S89T	probably damaging	Het
Sptbn1	G	A	11: 30,050,660 (GRCm39)	H2310Y	probably benign	Het
Tbc1d9b	C	A	11: 50,031,289 (GRCm39)	N103K	probably benign	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tmem100	C	T	11: 89,926,389 (GRCm39)	T72I	probably damaging	Het
Ttc38	A	G	15: 85,737,164 (GRCm39)	T350A	probably benign	Het
Ubr4	C	T	4: 139,177,840 (GRCm39)	T3241M	probably damaging	Het
Unc13d	A	T	11: 115,964,214 (GRCm39)	M350K	possibly damaging	Het
Vit	T	C	17: 78,932,543 (GRCm39)	I550T	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Zbtb12	T	A	17: 35,115,377 (GRCm39)	H387Q	possibly 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
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
R9225:Atp11a	UTSW	8	12,867,005 (GRCm39)	missense	probably benign	0.01
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'- GGAGCCTCCCTCAGCAATATAG -3'
(R):5'- GTCACACTGATGACACACTTG -3'

Sequencing Primer
(F):5'- TCTGTGCATGTCACTAGGCCAG -3'
(R):5'- CACTTGTGAGGTCCAAGGATG -3'

Posted On

2015-10-21