Mutagenetix > Incidental Mutation

Incidental Mutation 'R1826:Atp11a'

206788

Institutional Source

Beutler Lab

Gene Symbol

Atp11a

Ensembl Gene

ENSMUSG00000031441

Gene Name

ATPase, class VI, type 11A

Synonyms

4930558F19Rik, LOC100045280, 9130422H11Rik, Ih

MMRRC Submission

039853-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1826 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

12807016-12918728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12896154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 788 (L788P)

Ref Sequence

ENSEMBL: ENSMUSP00000088779 (fasta)

Gene Model

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

AlphaFold

P98197

Predicted Effect

probably damaging
Transcript: ENSMUST00000033818
AA Change: L788P

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

SMART Domains

Protein: ENSMUSP00000033818
Gene: ENSMUSG00000031441
AA Change: L788P

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: L788P

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

SMART Domains

Protein: ENSMUSP00000088779
Gene: ENSMUSG00000031441
AA Change: L788P

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: ENSMUST00000132974
AA Change: L241P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117091
Gene: ENSMUSG00000031441
AA Change: L241P

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: ENSMUST00000136918

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

Meta Mutation Damage Score

0.9480

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

95% (116/122)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,810,453 (GRCm39)	S917P	probably benign	Het
Acsbg1	C	T	9: 54,529,840 (GRCm39)	V256M	possibly damaging	Het
Adam34	T	A	8: 44,104,379 (GRCm39)	D422V	probably damaging	Het
Adam6a	T	A	12: 113,509,742 (GRCm39)	V705E	possibly damaging	Het
Adamts12	C	A	15: 11,071,606 (GRCm39)	P50Q	probably benign	Het
Arfgap3	C	T	15: 83,187,303 (GRCm39)		probably null	Het
Aspg	T	A	12: 112,089,852 (GRCm39)	D463E	probably damaging	Het
Atad2b	G	A	12: 5,024,094 (GRCm39)	S73N	probably benign	Het
B3gnt8	T	C	7: 25,328,188 (GRCm39)	F206S	probably damaging	Het
Baz2b	T	C	2: 59,799,077 (GRCm39)	E349G	probably benign	Het
Bmp2k	A	T	5: 97,209,261 (GRCm39)		probably benign	Het
Camta2	A	G	11: 70,574,134 (GRCm39)	F128L	probably damaging	Het
Ccdc88a	A	T	11: 29,439,637 (GRCm39)	Q30L	possibly damaging	Het
Cdh1	T	C	8: 107,392,898 (GRCm39)	M794T	probably benign	Het
Cdh5	A	G	8: 104,857,723 (GRCm39)	N383S	possibly damaging	Het
Cep85l	T	C	10: 53,224,908 (GRCm39)	D227G	possibly damaging	Het
Clec4e	A	G	6: 123,260,591 (GRCm39)	S156P	probably damaging	Het
Col10a1	G	T	10: 34,270,645 (GRCm39)	G206C	probably damaging	Het
Col4a2	T	C	8: 11,363,509 (GRCm39)		probably null	Het
Copg2	A	G	6: 30,789,777 (GRCm39)	M517T	probably benign	Het
Cyp2f2	T	A	7: 26,831,987 (GRCm39)	L414Q	probably damaging	Het
Dact1	G	A	12: 71,365,118 (GRCm39)	G596D	probably damaging	Het
Dcaf13	T	C	15: 38,982,294 (GRCm39)	C87R	probably damaging	Het
Dchs1	T	G	7: 105,406,834 (GRCm39)	T2224P	probably damaging	Het
Dnah12	A	G	14: 26,432,174 (GRCm39)	M429V	probably benign	Het
Dppa2	G	A	16: 48,137,711 (GRCm39)	R231H	probably damaging	Het
Elavl4	T	C	4: 110,108,489 (GRCm39)	D78G	probably damaging	Het
Enthd1	T	C	15: 80,358,482 (GRCm39)	E346G	probably damaging	Het
Exoc3l	A	T	8: 106,020,250 (GRCm39)	I225N	probably damaging	Het
Fasn	C	T	11: 120,699,325 (GRCm39)		probably benign	Het
Fbxl7	G	A	15: 26,552,851 (GRCm39)	R139C	possibly damaging	Het
Fbxw15	C	A	9: 109,388,782 (GRCm39)		probably null	Het
Flnc	A	G	6: 29,455,184 (GRCm39)	T1971A	probably damaging	Het
Fnip1	T	G	11: 54,356,990 (GRCm39)	V33G	probably damaging	Het
Foxn2	A	G	17: 88,794,233 (GRCm39)	E390G	possibly damaging	Het
Fry	C	T	5: 150,360,174 (GRCm39)	S1940L	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gabrd	T	C	4: 155,470,943 (GRCm39)	Y255C	probably damaging	Het
Garem1	A	T	18: 21,262,509 (GRCm39)	F768L	probably benign	Het
Gas2	T	A	7: 51,593,421 (GRCm39)	L167Q	probably damaging	Het
Gm16391	A	G	17: 76,591,418 (GRCm39)		noncoding transcript	Het
Gm1979	A	T	5: 26,206,240 (GRCm39)	N113K	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Hdac4	T	A	1: 91,912,421 (GRCm39)	N352Y	probably damaging	Het
Hdac9	A	G	12: 34,479,491 (GRCm39)		probably benign	Het
Hhipl2	G	A	1: 183,217,253 (GRCm39)	S673N	probably benign	Het
Iffo2	T	A	4: 139,341,376 (GRCm39)	S417T	probably benign	Het
Itgb5	G	T	16: 33,685,930 (GRCm39)	R90L	possibly damaging	Het
Jade1	T	G	3: 41,567,648 (GRCm39)	L572W	probably damaging	Het
Kcnh1	T	A	1: 192,095,376 (GRCm39)	M478K	possibly damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kcnq4	T	A	4: 120,561,701 (GRCm39)	H456L	probably benign	Het
Kif9	C	A	9: 110,346,701 (GRCm39)	T613K	probably benign	Het
Krt36	T	G	11: 99,993,856 (GRCm39)		probably benign	Het
Kyat3	A	T	3: 142,428,940 (GRCm39)	D89V	possibly damaging	Het
Lnpep	A	T	17: 17,783,098 (GRCm39)	F568I	probably damaging	Het
Lpl	T	C	8: 69,354,943 (GRCm39)	F444L	possibly damaging	Het
Lrp1	A	T	10: 127,389,576 (GRCm39)	V3153E	probably damaging	Het
Lrrn1	A	T	6: 107,544,529 (GRCm39)	N109I	probably benign	Het
Ltn1	A	G	16: 87,212,504 (GRCm39)	Y686H	probably damaging	Het
Mcoln2	A	C	3: 145,881,227 (GRCm39)	D166A	possibly damaging	Het
Ms4a6b	A	T	19: 11,501,298 (GRCm39)	I103F	probably damaging	Het
Mtmr10	T	G	7: 63,987,214 (GRCm39)	S585A	probably benign	Het
Mx1	T	C	16: 97,256,837 (GRCm39)	N114S	possibly damaging	Het
Mysm1	A	T	4: 94,858,923 (GRCm39)	N75K	probably benign	Het
Nkx1-1	A	G	5: 33,591,277 (GRCm39)	V15A	unknown	Het
Nlrp1a	G	A	11: 71,013,573 (GRCm39)	T559I	possibly damaging	Het
Nlrp1a	T	A	11: 70,998,806 (GRCm39)		probably benign	Het
Oas1f	A	G	5: 120,993,652 (GRCm39)	K288R	probably benign	Het
Or10q1	T	A	19: 13,726,711 (GRCm39)	D80E	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or9e1	T	A	11: 58,732,257 (GRCm39)	C106S	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pcdhb5	C	T	18: 37,454,522 (GRCm39)	R301*	probably null	Het
Phf12	T	C	11: 77,915,780 (GRCm39)		probably benign	Het
Pik3c2a	C	T	7: 115,967,352 (GRCm39)	D862N	probably benign	Het
Pkhd1l1	T	A	15: 44,366,741 (GRCm39)	L740I	possibly damaging	Het
Ppp1r9a	A	T	6: 5,111,060 (GRCm39)		probably benign	Het
Prg4	T	C	1: 150,327,760 (GRCm39)	D820G	probably benign	Het
Prmt9	C	T	8: 78,282,303 (GRCm39)	Q67*	probably null	Het
Prob1	T	C	18: 35,786,628 (GRCm39)	E542G	possibly damaging	Het
Pttg1	A	G	11: 43,311,193 (GRCm39)	V188A	probably damaging	Het
Rassf1	T	A	9: 107,435,392 (GRCm39)	L260H	probably damaging	Het
Rbm5	T	A	9: 107,619,613 (GRCm39)	Q766L	probably damaging	Het
Rbms3	T	A	9: 116,651,936 (GRCm39)	Y137F	probably damaging	Het
Rccd1	T	C	7: 79,969,966 (GRCm39)		probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Setd4	T	A	16: 93,388,187 (GRCm39)	K100*	probably null	Het
Simc1	T	A	13: 54,672,452 (GRCm39)	C267S	probably benign	Het
Slc16a1	G	T	3: 104,558,255 (GRCm39)	A91S	probably benign	Het
Slc36a1	A	G	11: 55,111,279 (GRCm39)	N133S	probably benign	Het
Ssxb16	T	A	X: 8,746,944 (GRCm39)	Y133*	probably null	Het
Svil	C	T	18: 5,063,383 (GRCm39)	P885S	probably benign	Het
Svop	A	T	5: 114,198,117 (GRCm39)		probably null	Het
Taar7d	T	C	10: 23,903,474 (GRCm39)	Y119H	probably damaging	Het
Tasor2	T	A	13: 3,631,759 (GRCm39)	N914I	probably damaging	Het
Tgfb3	T	C	12: 86,108,818 (GRCm39)	T304A	probably benign	Het
Tmem94	C	A	11: 115,684,039 (GRCm39)	C786*	probably null	Het
Tnfrsf4	T	A	4: 156,100,736 (GRCm39)		probably null	Het
Tns1	C	A	1: 73,992,793 (GRCm39)	M1I	probably null	Het
Trappc13	C	T	13: 104,306,327 (GRCm39)		probably null	Het
Trim72	T	C	7: 127,607,016 (GRCm39)	F182L	possibly damaging	Het
Ttc6	T	C	12: 57,707,033 (GRCm39)	S647P	probably benign	Het
Tulp1	A	G	17: 28,575,341 (GRCm39)	L400P	possibly damaging	Het
Vegfc	C	T	8: 54,634,347 (GRCm39)	T342M	possibly damaging	Het
Vit	T	A	17: 78,842,105 (GRCm39)	V15E	probably benign	Het
Vps13d	A	T	4: 144,881,573 (GRCm39)	M1334K	probably damaging	Het
Zfp280d	T	C	9: 72,206,062 (GRCm39)	V23A	probably damaging	Het
Zfp608	A	G	18: 55,031,648 (GRCm39)	I764T	probably benign	Het
Zfp94	T	C	7: 24,008,540 (GRCm39)	Y33C	probably damaging	Het
Zfyve26	T	A	12: 79,315,823 (GRCm39)	I1218F	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
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
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'- GGTGGATCCAGTACTGTAAGCAAG -3'
(R):5'- AATGCTGGCATCTCCCCAAC -3'

Sequencing Primer
(F):5'- GATCCAGTACTGTAAGCAAGTGTCC -3'
(R):5'- GGCATCTCCCCAACCGTCTAG -3'

Posted On

2014-06-23