Incidental Mutation 'IGL01712:Atp11a'
ID104822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp11a
Ensembl Gene ENSMUSG00000031441
Gene NameATPase, class VI, type 11A
SynonymsIh, 4930558F19Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01712
Quality Score
Status
Chromosome8
Chromosomal Location12757014-12868728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 12851138 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 989 (I989K)
Ref Sequence ENSEMBL: ENSMUSP00000088779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033818] [ENSMUST00000091237] [ENSMUST00000132974] [ENSMUST00000133338]
Predicted Effect probably benign
Transcript: ENSMUST00000033818
AA Change: I989K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000033818
Gene: ENSMUSG00000031441
AA Change: I989K

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
AA Change: I989K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000088779
Gene: ENSMUSG00000031441
AA Change: I989K

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: ENSMUST00000132974
AA Change: I442K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000117091
Gene: ENSMUSG00000031441
AA Change: I442K

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: ENSMUST00000136918
Predicted Effect unknown
Transcript: ENSMUST00000152273
AA Change: I107K
SMART Domains Protein: ENSMUSP00000121989
Gene: ENSMUSG00000031441
AA Change: I107K

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_C 1 157 1.7e-43 PFAM
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,279 V161A probably benign Het
Arhgdib G A 6: 136,924,197 T178M probably damaging Het
Bcam T C 7: 19,758,767 S498G probably damaging Het
Bcas3 A G 11: 85,581,048 I728V probably damaging Het
Cep57 G T 9: 13,813,417 P119Q possibly damaging Het
Clip4 T A 17: 71,799,041 I73N probably damaging Het
Cpa4 A G 6: 30,590,816 D371G possibly damaging Het
Dnah7a A G 1: 53,423,270 S3721P probably benign Het
Fam166a T C 2: 25,218,792 probably benign Het
Fcrla T C 1: 170,921,623 probably null Het
Foxg1 T C 12: 49,385,620 S379P possibly damaging Het
Gatm T A 2: 122,600,825 Y227F possibly damaging Het
Gm8298 T A 3: 59,868,900 I164N possibly damaging Het
Grid2 A T 6: 64,665,915 D887V possibly damaging Het
Gtpbp6 A T 5: 110,104,379 I429N probably benign Het
Ighmbp2 A G 19: 3,273,038 probably benign Het
Irs4 T C X: 141,722,399 N934D unknown Het
Kif16b T A 2: 142,648,471 N1257I probably damaging Het
L1cam T C X: 73,864,438 Y169C probably damaging Het
L3mbtl3 A T 10: 26,276,235 M821K probably damaging Het
Lig3 A G 11: 82,789,541 probably benign Het
Lpin2 T A 17: 71,215,068 D32E probably damaging Het
Mcoln3 T C 3: 146,128,264 probably benign Het
Mgst2 T C 3: 51,664,571 V40A probably damaging Het
Mov10l1 T C 15: 89,024,766 S997P probably damaging Het
Mycbpap G T 11: 94,512,655 H187Q possibly damaging Het
Olfr136 A T 17: 38,335,957 T267S probably benign Het
Olfr652 T C 7: 104,565,019 V266A probably benign Het
Onecut2 T A 18: 64,386,602 S478T probably damaging Het
Pcdhb5 A T 18: 37,321,253 I229F probably damaging Het
Pfas A G 11: 68,991,060 V933A probably benign Het
Phldb2 A T 16: 45,751,429 I1200N probably damaging Het
Pla2g4e C A 2: 120,189,403 probably null Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Rhot2 A G 17: 25,841,360 probably null Het
Serpina3f C T 12: 104,218,398 P267L probably damaging Het
Sppl2a C T 2: 126,904,903 probably benign Het
Tas2r122 A T 6: 132,711,762 M56K possibly damaging Het
Tbxas1 A G 6: 39,081,060 T450A probably benign Het
Tex16 T C X: 112,093,754 S87P probably damaging Het
Them7 T A 2: 105,378,885 F183L possibly damaging Het
Tmbim7 A G 5: 3,670,074 T116A probably damaging Het
Tomm40 G T 7: 19,703,363 S224R probably benign Het
Top3a A T 11: 60,761,736 I84N probably damaging Het
Vmn1r28 A G 6: 58,265,408 T79A probably benign Het
Vmn2r61 A T 7: 42,260,237 Y62F probably damaging Het
Zbtb42 T C 12: 112,680,284 C298R probably benign Het
Zfp395 G A 14: 65,386,387 E102K probably damaging Het
Other mutations in Atp11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Atp11a APN 8 12844609 missense probably damaging 1.00
IGL01397:Atp11a APN 8 12812321 missense probably damaging 1.00
IGL02113:Atp11a APN 8 12865048 missense probably benign
IGL02449:Atp11a APN 8 12757358 splice site probably null
IGL02550:Atp11a APN 8 12816997 missense possibly damaging 0.72
IGL03099:Atp11a APN 8 12827462 missense possibly damaging 0.52
R0139:Atp11a UTSW 8 12846054 missense probably benign 0.00
R0265:Atp11a UTSW 8 12856930 splice site probably benign
R0294:Atp11a UTSW 8 12827524 missense probably benign 0.03
R0331:Atp11a UTSW 8 12816953 nonsense probably null
R0582:Atp11a UTSW 8 12831214 missense probably benign 0.10
R1033:Atp11a UTSW 8 12828555 missense probably damaging 1.00
R1213:Atp11a UTSW 8 12842859 missense probably benign 0.04
R1551:Atp11a UTSW 8 12812340 missense probably damaging 1.00
R1648:Atp11a UTSW 8 12847495 missense probably damaging 1.00
R1752:Atp11a UTSW 8 12813094 missense probably damaging 1.00
R1826:Atp11a UTSW 8 12846154 missense probably damaging 1.00
R1887:Atp11a UTSW 8 12812324 missense probably damaging 1.00
R2079:Atp11a UTSW 8 12857902 missense probably damaging 1.00
R2106:Atp11a UTSW 8 12835228 missense probably benign
R2319:Atp11a UTSW 8 12847505 missense probably damaging 1.00
R2966:Atp11a UTSW 8 12847853 unclassified probably null
R4021:Atp11a UTSW 8 12842938 missense probably benign 0.01
R4183:Atp11a UTSW 8 12816990 missense possibly damaging 0.94
R4640:Atp11a UTSW 8 12828434 splice site probably benign
R4705:Atp11a UTSW 8 12813118 missense probably damaging 1.00
R5354:Atp11a UTSW 8 12806753 missense probably damaging 1.00
R5777:Atp11a UTSW 8 12832522 missense probably damaging 0.99
R6152:Atp11a UTSW 8 12846100 missense probably damaging 0.97
R6171:Atp11a UTSW 8 12832663 missense probably damaging 1.00
R6197:Atp11a UTSW 8 12846099 missense probably benign 0.01
R6335:Atp11a UTSW 8 12859481 critical splice donor site probably null
R6526:Atp11a UTSW 8 12864999 missense probably benign
R6792:Atp11a UTSW 8 12861939 unclassified probably benign
R6923:Atp11a UTSW 8 12856949 missense probably damaging 0.99
R6959:Atp11a UTSW 8 12820467 missense probably damaging 1.00
R7297:Atp11a UTSW 8 12806774 critical splice donor site probably null
R7499:Atp11a UTSW 8 12832575 missense probably benign 0.01
R7606:Atp11a UTSW 8 12844427 missense probably damaging 1.00
R7844:Atp11a UTSW 8 12851039 missense possibly damaging 0.68
R7927:Atp11a UTSW 8 12851039 missense possibly damaging 0.68
X0017:Atp11a UTSW 8 12826323 critical splice acceptor site probably null
X0022:Atp11a UTSW 8 12847794 missense probably damaging 0.99
Posted On2014-01-21