Incidental Mutation 'R0279:Atp8a1'
ID 98825
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 038501-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0279 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 67970435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000113651] [ENSMUST00000113652] [ENSMUST00000200955] [ENSMUST00000135930] [ENSMUST00000141443]
AlphaFold P70704
Predicted Effect probably null
Transcript: ENSMUST00000037380
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 101 9.8e-27 PFAM
Pfam:E1-E2_ATPase 106 371 3e-11 PFAM
Pfam:HAD 406 810 3.8e-23 PFAM
Pfam:Cation_ATPase 485 585 6e-14 PFAM
Pfam:PhoLip_ATPase_C 827 1079 8.2e-82 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000072971
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Pfam:E1-E2_ATPase 104 375 2.1e-22 PFAM
Pfam:Hydrolase 403 798 2.2e-14 PFAM
Pfam:HAD 406 795 3e-18 PFAM
Pfam:Hydrolase_like2 470 570 4.5e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113651
SMART Domains Protein: ENSMUSP00000109281
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Blast:CUB 46 87 4e-6 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000113652
SMART Domains Protein: ENSMUSP00000109282
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Blast:CUB 46 87 9e-6 BLAST
Pfam:E1-E2_ATPase 104 175 6.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130652
Predicted Effect silent
Transcript: ENSMUST00000200955
SMART Domains Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 101 7.5e-25 PFAM
Pfam:E1-E2_ATPase 106 371 3.7e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000135930
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 101 1.1e-26 PFAM
Pfam:E1-E2_ATPase 106 371 8.6e-14 PFAM
Pfam:HAD 406 795 3.6e-23 PFAM
Pfam:Cation_ATPase 470 570 1.2e-13 PFAM
Pfam:PhoLip_ATPase_C 812 1064 8.4e-82 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000141443
SMART Domains Protein: ENSMUSP00000121630
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 51 106 9.6e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202248
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.6%
Validation Efficiency 99% (82/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable, fertile and phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610528J11Rik A T 4: 118,386,490 (GRCm39) M1L probably benign Het
5730596B20Rik T A 6: 52,156,182 (GRCm39) probably benign Het
Acrbp T C 6: 125,030,917 (GRCm39) probably null Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Acss3 A G 10: 106,920,732 (GRCm39) I126T possibly damaging Het
Aff3 T C 1: 38,574,650 (GRCm39) E110G probably damaging Het
Aldh1a3 T C 7: 66,059,000 (GRCm39) I113V probably benign Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Atp2b4 A G 1: 133,657,440 (GRCm39) probably benign Het
Bhmt A G 13: 93,761,972 (GRCm39) C104R probably damaging Het
Cct5 T G 15: 31,591,177 (GRCm39) E508A probably damaging Het
Celsr1 T A 15: 85,787,065 (GRCm39) E2761D probably benign Het
Clstn1 T C 4: 149,728,131 (GRCm39) S600P probably damaging Het
Cnppd1 A G 1: 75,113,573 (GRCm39) S232P probably damaging Het
Crybb3 T C 5: 113,227,619 (GRCm39) probably null Het
Csmd1 A G 8: 16,273,249 (GRCm39) I861T probably damaging Het
Cyp2d10 A C 15: 82,289,540 (GRCm39) S191A possibly damaging Het
Ddx10 T C 9: 53,146,604 (GRCm39) D206G probably damaging Het
Dnah1 G T 14: 31,024,332 (GRCm39) H916N possibly damaging Het
Dnah9 A G 11: 65,802,615 (GRCm39) probably null Het
Epb42 G A 2: 120,859,525 (GRCm39) probably benign Het
Etnppl A G 3: 130,423,062 (GRCm39) R248G probably damaging Het
Eya3 T C 4: 132,446,558 (GRCm39) F369L probably damaging Het
Fam170b T C 14: 32,556,025 (GRCm39) probably benign Het
Fli1 A T 9: 32,372,723 (GRCm39) V105D probably damaging Het
Fmo1 T C 1: 162,657,841 (GRCm39) I433M possibly damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Foxe3 T C 4: 114,782,765 (GRCm39) D149G probably damaging Het
Gk5 T C 9: 96,056,857 (GRCm39) probably benign Het
Gm14226 A G 2: 154,867,372 (GRCm39) D443G possibly damaging Het
Gm9796 C T 11: 95,588,821 (GRCm39) noncoding transcript Het
Golga4 A T 9: 118,398,061 (GRCm39) R52S probably benign Het
Hey2 C A 10: 30,710,006 (GRCm39) C249F probably damaging Het
Ipo9 A T 1: 135,348,101 (GRCm39) probably benign Het
Ireb2 C A 9: 54,793,877 (GRCm39) T269K probably benign Het
Kansl3 A G 1: 36,391,050 (GRCm39) V274A probably damaging Het
Kcnk2 C T 1: 188,942,169 (GRCm39) A352T possibly damaging Het
Lamc2 T C 1: 153,006,442 (GRCm39) E903G probably benign Het
Lepr A G 4: 101,607,541 (GRCm39) K253R probably benign Het
Lmntd2 T C 7: 140,793,536 (GRCm39) probably benign Het
Lrrc39 A T 3: 116,371,952 (GRCm39) T240S probably benign Het
Lrrc43 A G 5: 123,635,085 (GRCm39) probably null Het
Maf T C 8: 116,432,495 (GRCm39) M370V possibly damaging Het
Mib2 G A 4: 155,745,673 (GRCm39) S46L possibly damaging Het
Mms22l C T 4: 24,497,867 (GRCm39) T63I probably damaging Het
Morc2a T A 11: 3,633,989 (GRCm39) S700R probably benign Het
Mpz A G 1: 170,987,498 (GRCm39) probably benign Het
Ncam2 T C 16: 81,420,225 (GRCm39) probably benign Het
Niban1 T C 1: 151,584,957 (GRCm39) probably null Het
Nudt14 C T 12: 112,902,037 (GRCm39) A123T probably damaging Het
Odad3 A G 9: 21,901,543 (GRCm39) probably benign Het
Or10h1 C T 17: 33,418,298 (GRCm39) T92I probably benign Het
Or2a7 G A 6: 43,151,692 (GRCm39) M257I probably benign Het
Or9g20 A T 2: 85,629,879 (GRCm39) I245N possibly damaging Het
Otoa T C 7: 120,710,302 (GRCm39) probably benign Het
Pik3cg G A 12: 32,254,790 (GRCm39) T399I probably damaging Het
Pkn3 C T 2: 29,973,309 (GRCm39) A377V probably benign Het
Ppan A G 9: 20,802,825 (GRCm39) N327S probably benign Het
Prkca T C 11: 107,944,937 (GRCm39) probably benign Het
Prrc2c A T 1: 162,543,033 (GRCm39) V320E probably damaging Het
Ptprq A G 10: 107,444,278 (GRCm39) V1442A probably damaging Het
Rapgef1 C T 2: 29,616,239 (GRCm39) R834C probably damaging Het
Rbms1 G T 2: 60,672,754 (GRCm39) N44K probably damaging Het
Rfwd3 A C 8: 112,009,365 (GRCm39) F404V probably benign Het
Rimbp3 G T 16: 17,027,317 (GRCm39) R247L probably benign Het
Serpinb1b T C 13: 33,277,696 (GRCm39) S310P possibly damaging Het
Smtn C A 11: 3,480,235 (GRCm39) V329L probably damaging Het
Snapc2 T C 8: 4,304,979 (GRCm39) probably benign Het
Spam1 A T 6: 24,800,418 (GRCm39) M386L probably benign Het
Syne2 A G 12: 76,142,387 (GRCm39) E6208G probably damaging Het
Teddm1a T C 1: 153,768,369 (GRCm39) Y278H probably damaging Het
Tnfaip6 A T 2: 51,945,928 (GRCm39) N258I possibly damaging Het
Trpm4 C T 7: 44,971,472 (GRCm39) R188Q probably damaging Het
Ttbk2 A T 2: 120,579,441 (GRCm39) H491Q probably benign Het
Urgcp C T 11: 5,666,989 (GRCm39) E450K probably benign Het
Vmn1r228 T C 17: 20,996,637 (GRCm39) N294D probably benign Het
Wdfy3 A T 5: 102,015,958 (GRCm39) C2606S probably damaging Het
Wdr33 T A 18: 32,021,377 (GRCm39) H642Q unknown Het
Zbtb46 A G 2: 181,053,567 (GRCm39) S382P possibly damaging Het
Zfp217 A G 2: 169,961,700 (GRCm39) I209T probably benign Het
Zranb3 T A 1: 127,891,510 (GRCm39) N822I probably benign Het
Other mutations in Atp8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Atp8a1 APN 5 67,906,486 (GRCm39) missense probably benign 0.20
IGL00778:Atp8a1 APN 5 67,817,246 (GRCm39) missense possibly damaging 0.58
IGL01068:Atp8a1 APN 5 67,824,680 (GRCm39) missense probably benign 0.02
IGL01152:Atp8a1 APN 5 68,004,549 (GRCm39) missense probably damaging 0.99
IGL01572:Atp8a1 APN 5 67,824,994 (GRCm39) missense probably benign
IGL01608:Atp8a1 APN 5 67,970,479 (GRCm39) nonsense probably null
IGL02171:Atp8a1 APN 5 67,895,808 (GRCm39) missense probably damaging 1.00
IGL02330:Atp8a1 APN 5 67,970,520 (GRCm39) missense probably damaging 0.98
IGL02381:Atp8a1 APN 5 67,863,338 (GRCm39) missense probably benign
IGL02420:Atp8a1 APN 5 67,840,126 (GRCm39) missense probably damaging 1.00
IGL02440:Atp8a1 APN 5 67,824,777 (GRCm39) splice site probably benign
IGL02598:Atp8a1 APN 5 67,840,099 (GRCm39) critical splice donor site probably null
IGL03259:Atp8a1 APN 5 67,781,349 (GRCm39) splice site probably null
IGL03336:Atp8a1 APN 5 67,887,150 (GRCm39) nonsense probably null
IGL03380:Atp8a1 APN 5 67,889,529 (GRCm39) missense probably benign 0.25
PIT4131001:Atp8a1 UTSW 5 67,779,945 (GRCm39) nonsense probably null
PIT4445001:Atp8a1 UTSW 5 67,780,003 (GRCm39) missense
R0208:Atp8a1 UTSW 5 67,932,064 (GRCm39) critical splice donor site probably null
R0276:Atp8a1 UTSW 5 67,944,016 (GRCm39) splice site probably benign
R0329:Atp8a1 UTSW 5 67,969,416 (GRCm39) splice site probably benign
R0603:Atp8a1 UTSW 5 67,914,039 (GRCm39) critical splice acceptor site probably null
R0715:Atp8a1 UTSW 5 67,932,068 (GRCm39) missense probably benign 0.00
R0763:Atp8a1 UTSW 5 67,817,226 (GRCm39) missense probably benign
R1296:Atp8a1 UTSW 5 67,780,049 (GRCm39) splice site probably benign
R1631:Atp8a1 UTSW 5 67,906,395 (GRCm39) splice site probably null
R1764:Atp8a1 UTSW 5 67,788,910 (GRCm39) missense probably benign 0.14
R1771:Atp8a1 UTSW 5 67,805,074 (GRCm39) missense probably damaging 1.00
R1885:Atp8a1 UTSW 5 67,904,661 (GRCm39) missense possibly damaging 0.82
R1897:Atp8a1 UTSW 5 67,895,772 (GRCm39) missense probably damaging 1.00
R1968:Atp8a1 UTSW 5 67,825,000 (GRCm39) missense probably benign 0.05
R2965:Atp8a1 UTSW 5 67,805,049 (GRCm39) missense probably benign 0.28
R2966:Atp8a1 UTSW 5 67,805,049 (GRCm39) missense probably benign 0.28
R4247:Atp8a1 UTSW 5 67,824,917 (GRCm39) missense probably damaging 1.00
R4353:Atp8a1 UTSW 5 67,926,451 (GRCm39) missense probably damaging 1.00
R4400:Atp8a1 UTSW 5 67,922,221 (GRCm39) missense probably benign 0.13
R4426:Atp8a1 UTSW 5 67,932,171 (GRCm39) missense probably benign 0.22
R4523:Atp8a1 UTSW 5 67,824,943 (GRCm39) missense probably benign 0.00
R4576:Atp8a1 UTSW 5 67,973,158 (GRCm39) intron probably benign
R4622:Atp8a1 UTSW 5 67,840,056 (GRCm39) intron probably benign
R4639:Atp8a1 UTSW 5 67,813,317 (GRCm39) missense probably benign 0.36
R4664:Atp8a1 UTSW 5 67,919,929 (GRCm39) missense possibly damaging 0.92
R4732:Atp8a1 UTSW 5 67,970,463 (GRCm39) missense probably benign 0.07
R4733:Atp8a1 UTSW 5 67,970,463 (GRCm39) missense probably benign 0.07
R5071:Atp8a1 UTSW 5 67,973,066 (GRCm39) missense probably benign 0.29
R5267:Atp8a1 UTSW 5 67,919,887 (GRCm39) missense probably damaging 1.00
R5314:Atp8a1 UTSW 5 67,863,248 (GRCm39) critical splice donor site probably null
R5424:Atp8a1 UTSW 5 67,969,443 (GRCm39) missense probably damaging 1.00
R5588:Atp8a1 UTSW 5 67,972,027 (GRCm39) missense probably damaging 1.00
R5698:Atp8a1 UTSW 5 67,924,496 (GRCm39) missense probably benign 0.14
R5815:Atp8a1 UTSW 5 67,906,414 (GRCm39) missense probably benign 0.00
R5977:Atp8a1 UTSW 5 67,904,628 (GRCm39) missense possibly damaging 0.94
R6285:Atp8a1 UTSW 5 67,824,950 (GRCm39) missense possibly damaging 0.68
R6341:Atp8a1 UTSW 5 67,840,270 (GRCm39) missense possibly damaging 0.88
R6736:Atp8a1 UTSW 5 67,824,960 (GRCm39) missense probably damaging 1.00
R6746:Atp8a1 UTSW 5 67,908,392 (GRCm39) missense probably benign 0.00
R6887:Atp8a1 UTSW 5 67,895,794 (GRCm39) missense probably benign 0.21
R6946:Atp8a1 UTSW 5 67,779,968 (GRCm39) missense possibly damaging 0.50
R6970:Atp8a1 UTSW 5 67,895,805 (GRCm39) missense probably damaging 1.00
R7035:Atp8a1 UTSW 5 67,938,373 (GRCm39) missense probably benign 0.00
R7218:Atp8a1 UTSW 5 67,860,324 (GRCm39) missense
R7278:Atp8a1 UTSW 5 67,781,380 (GRCm39) missense
R7530:Atp8a1 UTSW 5 67,902,971 (GRCm39) missense
R7548:Atp8a1 UTSW 5 67,973,071 (GRCm39) nonsense probably null
R7594:Atp8a1 UTSW 5 67,808,935 (GRCm39) missense
R7722:Atp8a1 UTSW 5 67,780,041 (GRCm39) critical splice acceptor site probably null
R8152:Atp8a1 UTSW 5 67,919,925 (GRCm39) missense
R9015:Atp8a1 UTSW 5 67,887,250 (GRCm39) missense
R9052:Atp8a1 UTSW 5 67,936,301 (GRCm39) critical splice donor site probably null
R9086:Atp8a1 UTSW 5 67,932,159 (GRCm39) missense
R9169:Atp8a1 UTSW 5 67,824,944 (GRCm39) missense
R9183:Atp8a1 UTSW 5 67,924,378 (GRCm39) missense
R9245:Atp8a1 UTSW 5 67,779,977 (GRCm39) missense unknown
R9401:Atp8a1 UTSW 5 67,906,492 (GRCm39) missense
R9607:Atp8a1 UTSW 5 67,817,250 (GRCm39) missense
R9664:Atp8a1 UTSW 5 67,889,524 (GRCm39) missense
X0019:Atp8a1 UTSW 5 67,906,484 (GRCm39) missense probably benign 0.22
Predicted Primers
Posted On 2014-01-10