Mutagenetix > Incidental Mutation

Incidental Mutation 'R0139:Atp11a'

22184

Institutional Source

Beutler Lab

Gene Symbol

Atp11a

Ensembl Gene

ENSMUSG00000031441

Gene Name

ATPase, class VI, type 11A

Synonyms

4930558F19Rik, LOC100045280, 9130422H11Rik, Ih

MMRRC Submission

038424-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0139 (G1)

Quality Score

190

Status

Validated (trace)

Chromosome

Chromosomal Location

12807016-12918728 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12896054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 755 (M755V)

Ref Sequence

ENSEMBL: ENSMUSP00000088779 (fasta)

Gene Model

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

AlphaFold

P98197

Predicted Effect

probably benign
Transcript: ENSMUST00000033818
AA Change: M755V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000033818
Gene: ENSMUSG00000031441
AA Change: M755V

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: M755V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000088779
Gene: ENSMUSG00000031441
AA Change: M755V

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: ENSMUST00000132974
AA Change: M208V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117091
Gene: ENSMUSG00000031441
AA Change: M208V

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

0.0642

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	C	T	8: 12,329,899 (GRCm39)	S118L	unknown	Het
Adprs	A	G	4: 126,211,947 (GRCm39)	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,222,007 (GRCm39)	S544P	probably benign	Het
Aopep	A	G	13: 63,338,298 (GRCm39)	N558S	probably benign	Het
Arhgef7	A	G	8: 11,850,503 (GRCm39)	E111G	probably damaging	Het
Atp2a2	A	G	5: 122,629,778 (GRCm39)	I97T	probably damaging	Het
Bmp3	G	A	5: 99,027,768 (GRCm39)	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,255,230 (GRCm39)		probably benign	Het
Ccdc28a	G	A	10: 18,106,188 (GRCm39)	S46F	possibly damaging	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Cenpw	T	G	10: 30,076,455 (GRCm39)	T8P	probably benign	Het
Cfap44	G	C	16: 44,253,785 (GRCm39)	G893R	possibly damaging	Het
Cimap3	A	T	3: 105,906,886 (GRCm39)	M171K	possibly damaging	Het
Cops7a	A	T	6: 124,938,323 (GRCm39)	C110S	probably damaging	Het
Cstl1	A	G	2: 148,597,245 (GRCm39)	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,511,114 (GRCm39)		probably null	Het
Dio2	T	A	12: 90,696,617 (GRCm39)	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,082,248 (GRCm39)	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,717,830 (GRCm39)	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,043,446 (GRCm39)	H162P	probably damaging	Het
Exoc5	C	T	14: 49,273,493 (GRCm39)	E301K	probably damaging	Het
F13b	G	A	1: 139,435,941 (GRCm39)	S249N	probably damaging	Het
Fam120b	C	T	17: 15,646,446 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,250,231 (GRCm39)	L396S	probably damaging	Het
Gck	T	A	11: 5,859,139 (GRCm39)	K143*	probably null	Het
Gck	C	A	11: 5,860,370 (GRCm39)	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gm4884	T	C	7: 40,692,387 (GRCm39)	F119L	probably benign	Het
Igsf11	T	C	16: 38,829,240 (GRCm39)	S45P	probably damaging	Het
Iho1	T	C	9: 108,289,695 (GRCm39)	T176A	probably damaging	Het
Il10	G	A	1: 130,950,271 (GRCm39)	V142M	probably damaging	Het
Insc	A	T	7: 114,368,237 (GRCm39)	H9L	probably damaging	Het
Iqsec1	G	T	6: 90,786,740 (GRCm39)		probably benign	Het
Katnb1	A	G	8: 95,825,050 (GRCm39)	S611G	possibly damaging	Het
Kcnb1	A	G	2: 166,947,459 (GRCm39)	I463T	possibly damaging	Het
Lao1	A	G	4: 118,821,399 (GRCm39)	N90S	probably benign	Het
Med16	T	A	10: 79,732,635 (GRCm39)	M710L	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mtus1	G	A	8: 41,469,233 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,950,682 (GRCm39)		probably benign	Het
Ndor1	C	T	2: 25,138,366 (GRCm39)	V405M	possibly damaging	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nme8	T	C	13: 19,862,018 (GRCm39)	I204V	probably benign	Het
Nup133	A	T	8: 124,656,082 (GRCm39)	N466K	probably benign	Het
Nxt1	A	G	2: 148,517,390 (GRCm39)	T44A	probably benign	Het
Or14c46	T	C	7: 85,918,187 (GRCm39)	E270G	probably benign	Het
Or2ag15	A	T	7: 106,340,832 (GRCm39)	I103N	probably benign	Het
Or2y12	C	T	11: 49,426,401 (GRCm39)	L130F	probably benign	Het
Or4e1	T	C	14: 52,700,669 (GRCm39)	T239A	probably damaging	Het
Or4f7	A	T	2: 111,644,699 (GRCm39)	I124K	possibly damaging	Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pced1a	T	C	2: 130,263,827 (GRCm39)	K275R	probably benign	Het
Pdcd11	A	G	19: 47,099,398 (GRCm39)		probably null	Het
Phldb2	A	C	16: 45,591,029 (GRCm39)		probably benign	Het
Piwil1	C	A	5: 128,824,387 (GRCm39)	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,054,501 (GRCm39)		probably benign	Het
Ppargc1b	A	T	18: 61,449,034 (GRCm39)		probably benign	Het
Psg19	C	T	7: 18,530,942 (GRCm39)	V71I	possibly damaging	Het
Ptk6	T	C	2: 180,838,724 (GRCm39)		probably benign	Het
Pus7	A	G	5: 23,983,090 (GRCm39)	S126P	probably damaging	Het
Rab6b	T	A	9: 103,017,576 (GRCm39)		probably null	Het
Ranbp3	G	A	17: 57,016,272 (GRCm39)	R347Q	possibly damaging	Het
Sanbr	A	T	11: 23,570,214 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,186,701 (GRCm39)	L866Q	probably damaging	Het
Slc25a34	A	G	4: 141,349,663 (GRCm39)	V164A	possibly damaging	Het
Smg1	A	G	7: 117,751,898 (GRCm39)		probably null	Het
Spin1	G	T	13: 51,303,048 (GRCm39)	V214L	probably benign	Het
Spmip2	A	T	3: 79,313,142 (GRCm39)	Y72F	probably damaging	Het
Sptbn1	T	C	11: 30,092,289 (GRCm39)	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,068,955 (GRCm39)		noncoding transcript	Het
Taar7f	T	C	10: 23,926,312 (GRCm39)	I302T	probably benign	Het
Tdrd1	C	A	19: 56,831,630 (GRCm39)	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,044,762 (GRCm39)	D498G	probably benign	Het
Tpgs2	A	G	18: 25,282,242 (GRCm39)	L103P	probably damaging	Het
Trip10	A	G	17: 57,568,633 (GRCm39)		probably null	Het
Trip6	A	T	5: 137,310,436 (GRCm39)	H269Q	probably benign	Het
Trmt12	T	C	15: 58,744,743 (GRCm39)	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,654,691 (GRCm39)	S1416T	probably benign	Het
Tsks	G	A	7: 44,603,883 (GRCm39)	A438T	probably benign	Het
Ttn	T	C	2: 76,727,630 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,155 (GRCm39)	V136M	possibly damaging	Het
Uty	A	C	Y: 1,197,223 (GRCm39)	Y115D	probably damaging	Het
Vcan	A	G	13: 89,839,380 (GRCm39)	S2055P	probably damaging	Het
Yes1	A	G	5: 32,842,039 (GRCm39)	Q521R	possibly damaging	Het
Zfp114	A	T	7: 23,880,685 (GRCm39)	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,420,532 (GRCm39)	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,747,834 (GRCm39)	Y430N	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
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
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'- ATGTTCAAGCAGTGAGGTGACCAG -3'
(R):5'- AAGCAAGGCTTCCCTATGCCTGAC -3'

Sequencing Primer
(F):5'- AGGTTAGAGATCTGCCCTCC -3'
(R):5'- TATGCCTGACACCCATGC -3'

Posted On

2013-04-16