Incidental Mutation 'R1648:Atp11a'
ID 174030
Institutional Source Beutler Lab
Gene Symbol Atp11a
Ensembl Gene ENSMUSG00000031441
Gene Name ATPase, class VI, type 11A
Synonyms 4930558F19Rik, LOC100045280, 9130422H11Rik, Ih
MMRRC Submission 039684-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1648 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 12807016-12918728 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12897495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 270 (S270L)
Ref Sequence ENSEMBL: ENSMUSP00000117091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033818] [ENSMUST00000091237] [ENSMUST00000132974] [ENSMUST00000133338]
AlphaFold P98197
Predicted Effect probably damaging
Transcript: ENSMUST00000033818
AA Change: S817L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033818
Gene: ENSMUSG00000031441
AA Change: S817L

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: S817L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000088779
Gene: ENSMUSG00000031441
AA Change: S817L

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 damaging
Transcript: ENSMUST00000132974
AA Change: S270L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117091
Gene: ENSMUSG00000031441
AA Change: S270L

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 probably benign
Transcript: ENSMUST00000152273
SMART Domains Protein: ENSMUSP00000121989
Gene: ENSMUSG00000031441

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_C 1 157 1.7e-43 PFAM
Meta Mutation Damage Score 0.1773 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp10a T C 7: 58,434,575 (GRCm39) V283A probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep104 G A 4: 154,063,553 (GRCm39) probably null Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ddx20 T C 3: 105,586,504 (GRCm39) I614V probably benign Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Myo1h G T 5: 114,474,336 (GRCm39) L458F probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prkd2 T A 7: 16,591,732 (GRCm39) F588I possibly damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R 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
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
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'- CTGTGGAGGAAATCATCTGAGGGC -3'
(R):5'- AGTCACCAATGTCTGGCTGCAC -3'

Sequencing Primer
(F):5'- GGGCTGTAAGCCAACAATTTC -3'
(R):5'- CCTTCTGTGAAAGATGACCCTGG -3'
Posted On 2014-04-24