Incidental Mutation 'R0265:Atp11a'
ID 34853
Institutional Source Beutler Lab
Gene Symbol Atp11a
Ensembl Gene ENSMUSG00000031441
Gene Name ATPase, class VI, type 11A
Synonyms 4930558F19Rik, LOC100045280, 9130422H11Rik, Ih
MMRRC Submission 038491-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0265 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 12807016-12918728 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 12906930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033818] [ENSMUST00000091237] [ENSMUST00000132974] [ENSMUST00000133338]
AlphaFold P98197
Predicted Effect probably benign
Transcript: ENSMUST00000033818
SMART Domains Protein: ENSMUSP00000033818
Gene: ENSMUSG00000031441

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000088779
Gene: ENSMUSG00000031441

DomainStartEndE-ValueType
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: ENSMUST00000131804
SMART Domains Protein: ENSMUSP00000121567
Gene: ENSMUSG00000031441

DomainStartEndE-ValueType
SCOP:d1eula_ 6 53 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132974
SMART Domains Protein: ENSMUSP00000117091
Gene: ENSMUSG00000031441

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:E1-E2_ATPase 99 291 7.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139545
Predicted Effect probably benign
Transcript: ENSMUST00000152273
SMART Domains Protein: ENSMUSP00000121989
Gene: ENSMUSG00000031441

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_C 1 157 1.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145372
Predicted Effect probably benign
Transcript: ENSMUST00000143359
SMART Domains Protein: ENSMUSP00000114312
Gene: ENSMUSG00000031441

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_C 1 98 2e-18 PFAM
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.6%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,822,850 (GRCm39) I321V probably benign Het
Adcy7 A G 8: 89,051,391 (GRCm39) D837G probably damaging Het
Aldh1a1 T A 19: 20,617,440 (GRCm39) Y457* probably null Het
Alox5 T C 6: 116,397,323 (GRCm39) Y287C probably benign Het
Ano8 T C 8: 71,933,168 (GRCm39) probably benign Het
Ap3b1 A G 13: 94,630,189 (GRCm39) K815E unknown Het
Atp6v0a1 A T 11: 100,939,341 (GRCm39) D702V possibly damaging Het
Cacna1b T A 2: 24,651,856 (GRCm39) N108Y probably damaging Het
Ccdc57 G C 11: 120,812,637 (GRCm39) A39G probably benign Het
Cdhr1 A T 14: 36,803,333 (GRCm39) V581D probably benign Het
Cfap20dc T G 14: 8,431,667 (GRCm38) Y655S probably damaging Het
Cyp2b23 A G 7: 26,372,304 (GRCm39) probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Ddit4l C T 3: 137,330,048 (GRCm39) probably benign Het
Dnah8 A T 17: 30,909,245 (GRCm39) I1024F probably benign Het
Dync2i1 T C 12: 116,221,026 (GRCm39) probably benign Het
Edc3 T A 9: 57,634,621 (GRCm39) F213I probably damaging Het
Edrf1 G A 7: 133,258,774 (GRCm39) D717N probably damaging Het
Efna5 G A 17: 62,958,068 (GRCm39) P63S probably damaging Het
Elapor2 T C 5: 9,484,681 (GRCm39) L486P probably damaging Het
Entpd3 A G 9: 120,387,547 (GRCm39) Y248C probably damaging Het
Flcn G A 11: 59,686,635 (GRCm39) Q373* probably null Het
Fry T C 5: 150,358,241 (GRCm39) V1908A probably damaging Het
Gabrg3 A T 7: 57,031,365 (GRCm39) Y58* probably null Het
Gabrp A T 11: 33,502,614 (GRCm39) Y417N probably damaging Het
Golga2 C A 2: 32,194,964 (GRCm39) probably null Het
Grip2 C A 6: 91,750,773 (GRCm39) probably null Het
Gsx2 A G 5: 75,237,729 (GRCm39) Y227C probably damaging Het
H2ac1 T C 13: 24,118,632 (GRCm39) V63A probably benign Het
Hif3a T C 7: 16,769,793 (GRCm39) *665W probably null Het
Hsd3b1 C A 3: 98,760,089 (GRCm39) V301L probably damaging Het
Ifitm5 T C 7: 140,529,921 (GRCm39) probably benign Het
Inpp4a A T 1: 37,418,067 (GRCm39) D498V probably damaging Het
Itga1 A T 13: 115,128,995 (GRCm39) D554E probably benign Het
Itk G A 11: 46,280,285 (GRCm39) probably benign Het
Kdm3b T A 18: 34,928,716 (GRCm39) probably benign Het
Klhl6 A G 16: 19,766,984 (GRCm39) V470A probably benign Het
Lamb3 T A 1: 193,002,839 (GRCm39) W95R probably damaging Het
Lbhd2 T A 12: 111,376,676 (GRCm39) I41N probably damaging Het
Lrp4 A T 2: 91,321,015 (GRCm39) S1014C probably damaging Het
Ltbp2 C T 12: 84,832,743 (GRCm39) probably null Het
Map3k19 A G 1: 127,749,919 (GRCm39) I1144T possibly damaging Het
Mfsd10 T C 5: 34,792,507 (GRCm39) probably benign Het
Mocos A G 18: 24,799,333 (GRCm39) D189G probably benign Het
Mvb12a T A 8: 71,999,654 (GRCm39) F224L probably damaging Het
Myo15a A T 11: 60,405,723 (GRCm39) probably null Het
Nos2 A T 11: 78,828,428 (GRCm39) H249L probably damaging Het
Notum A G 11: 120,549,160 (GRCm39) M184T probably benign Het
Nvl C A 1: 180,962,395 (GRCm39) D192Y probably damaging Het
Or10j3 A G 1: 173,031,484 (GRCm39) K187R probably benign Het
Or4f57 T C 2: 111,790,839 (GRCm39) Y193C probably damaging Het
Or5ac22 A T 16: 59,135,434 (GRCm39) F112Y probably damaging Het
Or5m12 T A 2: 85,734,591 (GRCm39) N269I probably benign Het
Or8k27 C A 2: 86,276,303 (GRCm39) V8L probably benign Het
Osgin1 A G 8: 120,172,396 (GRCm39) I397V possibly damaging Het
Otulin A G 15: 27,616,510 (GRCm39) V123A probably damaging Het
P4ha1 A G 10: 59,184,081 (GRCm39) Y181C probably damaging Het
Pcdhgc5 A T 18: 37,954,403 (GRCm39) D559V probably damaging Het
Phf2 T C 13: 48,982,270 (GRCm39) N151S unknown Het
Plxnc1 C A 10: 94,648,991 (GRCm39) G1263C probably benign Het
Rad51ap1 A G 6: 126,901,160 (GRCm39) *338Q probably null Het
Raver1 A G 9: 20,986,955 (GRCm39) S676P probably benign Het
Rfx8 T C 1: 39,727,737 (GRCm39) E196G possibly damaging Het
Rreb1 A T 13: 38,100,131 (GRCm39) K187* probably null Het
Rxfp1 T C 3: 79,574,961 (GRCm39) T217A probably benign Het
Rxra T C 2: 27,642,442 (GRCm39) L305P probably damaging Het
Sardh T C 2: 27,117,078 (GRCm39) probably benign Het
Skor2 A T 18: 76,964,293 (GRCm39) E952D probably damaging Het
Slc22a29 A T 19: 8,147,334 (GRCm39) S343T probably benign Het
Sorbs2 T C 8: 46,238,374 (GRCm39) probably benign Het
Supt7l C T 5: 31,673,262 (GRCm39) V329I probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 T C 6: 7,559,165 (GRCm39) probably benign Het
Tcn2 A T 11: 3,872,044 (GRCm39) V361D probably damaging Het
Tm2d3 G A 7: 65,347,582 (GRCm39) A170T possibly damaging Het
Tnks G A 8: 35,307,124 (GRCm39) R1142* probably null Het
Ttll7 C A 3: 146,649,915 (GRCm39) Y648* probably null Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Upf2 G A 2: 6,032,015 (GRCm39) probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Washc5 A G 15: 59,210,809 (GRCm39) I1013T probably benign Het
Zfp704 C A 3: 9,630,217 (GRCm39) R48L probably damaging Het
Other mutations in Atp11a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGTCAGACCAGCAGGACACTACTAC -3'
(R):5'- ACTCGCTGGGACCTGGATATGAAC -3'

Sequencing Primer
(F):5'- TACTACATCCTTGACCCAGGC -3'
(R):5'- CTGGGACCTGGATATGAACTGAAG -3'
Posted On 2013-05-09