Incidental Mutation 'R6970:Atp8a1'
ID 542172
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 045080-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6970 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67895805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 543 (V543A)
Ref Sequence ENSEMBL: ENSMUSP00000118379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: V558A

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 damaging
Transcript: ENSMUST00000072971
AA Change: V558A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: V558A

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 damaging
Transcript: ENSMUST00000135930
AA Change: V543A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: V543A

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 benign
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,036,044 (GRCm39) Y285H possibly damaging Het
Adam17 A G 12: 21,395,669 (GRCm39) S285P probably benign Het
Adcy10 A G 1: 165,384,485 (GRCm39) N1082S probably benign Het
Ahdc1 T A 4: 132,789,656 (GRCm39) L299Q possibly damaging Het
Ambra1 T A 2: 91,602,945 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
BC034090 T A 1: 155,117,185 (GRCm39) D311V probably damaging Het
Blnk G T 19: 40,950,821 (GRCm39) P110Q probably damaging Het
Cc2d2a A G 5: 43,875,927 (GRCm39) E968G probably damaging Het
Ccdc14 A T 16: 34,529,903 (GRCm39) E394V probably damaging Het
Ccdc162 A T 10: 41,491,954 (GRCm39) H1086Q probably benign Het
Ccdc85b T A 19: 5,507,248 (GRCm39) I60F probably damaging Het
Ceacam20 T A 7: 19,723,902 (GRCm39) L562Q probably damaging Het
Cntrl T C 2: 35,008,149 (GRCm39) F188L probably benign Het
Cplane1 T C 15: 8,217,032 (GRCm39) V750A probably benign Het
Dclk1 A T 3: 55,374,022 (GRCm39) probably benign Het
Ddx20 A T 3: 105,587,674 (GRCm39) L434H probably damaging Het
Ddx51 G A 5: 110,804,728 (GRCm39) V547M probably damaging Het
Dnah11 T A 12: 118,072,679 (GRCm39) Q1472L probably benign Het
Dnajb13 T C 7: 100,156,629 (GRCm39) E149G probably damaging Het
Efcab3 A G 11: 104,667,182 (GRCm39) E1422G probably benign Het
Eif1ad8 G T 12: 87,563,388 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,924 (GRCm39) N3192S probably damaging Het
Fat4 A T 3: 39,050,120 (GRCm39) D3994V probably damaging Het
Fcgr1 C A 3: 96,191,936 (GRCm39) probably null Het
Gm12185 G A 11: 48,798,739 (GRCm39) R585* probably null Het
Gm32687 A G 10: 81,715,304 (GRCm39) H232R probably benign Het
Gm5431 G T 11: 48,779,317 (GRCm39) A535D probably damaging Het
Jarid2 C T 13: 45,056,461 (GRCm39) P556S probably damaging Het
Map3k4 C A 17: 12,467,803 (GRCm39) G1077V probably damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlxip A G 5: 123,583,735 (GRCm39) T433A possibly damaging Het
Ms4a20 A G 19: 11,089,678 (GRCm39) probably null Het
Mus81 G T 19: 5,535,554 (GRCm39) H199Q probably benign Het
Mylk3 G A 8: 86,085,892 (GRCm39) T54M probably damaging Het
Nalcn A G 14: 123,551,506 (GRCm39) F1034L possibly damaging Het
Nfatc1 A C 18: 80,710,228 (GRCm39) S513A probably benign Het
Ninj2 A G 6: 120,175,092 (GRCm39) I88V possibly damaging Het
Nomo1 C T 7: 45,695,391 (GRCm39) P277L probably damaging Het
Nup214 C T 2: 31,941,810 (GRCm39) S571L probably damaging Het
Or10g9b T A 9: 39,918,009 (GRCm39) M79L probably benign Het
Or5b3 T A 19: 13,388,792 (GRCm39) N286K probably damaging Het
Or9a7 T C 6: 40,521,590 (GRCm39) S108G probably benign Het
Pcdh15 C T 10: 74,338,519 (GRCm39) P1005S probably damaging Het
Pkhd1l1 G A 15: 44,375,070 (GRCm39) A942T possibly damaging Het
Plagl1 T C 10: 13,000,860 (GRCm39) C34R probably damaging Het
Plekha2 T C 8: 25,549,280 (GRCm39) Q168R probably benign Het
Plekha6 G A 1: 133,191,556 (GRCm39) A146T probably benign Het
Plekhm3 T G 1: 64,931,912 (GRCm39) K564T possibly damaging Het
Plpp2 A G 10: 79,366,380 (GRCm39) V26A possibly damaging Het
Prdm10 T G 9: 31,241,119 (GRCm39) Y302* probably null Het
Prdm8 A G 5: 98,332,471 (GRCm39) E124G probably damaging Het
Prg4 T G 1: 150,331,657 (GRCm39) probably benign Het
Qser1 A G 2: 104,618,475 (GRCm39) V779A probably benign Het
Rbm39 G A 2: 156,009,504 (GRCm39) R123C probably damaging Het
Ric1 C T 19: 29,565,172 (GRCm39) P640S probably damaging Het
Rpl14 G A 9: 120,403,293 (GRCm39) probably benign Het
Rsl1d1 T A 16: 11,011,558 (GRCm39) D382V probably benign Het
Rubcn G T 16: 32,688,514 (GRCm39) probably benign Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Slc26a11 T G 11: 119,247,798 (GRCm39) V41G probably damaging Het
Slc41a2 A G 10: 83,151,960 (GRCm39) F172L possibly damaging Het
Slc4a4 A C 5: 89,327,690 (GRCm39) Y674S probably damaging Het
Spata31e3 A T 13: 50,401,007 (GRCm39) Y440N possibly damaging Het
Strc A C 2: 121,208,495 (GRCm39) M292R probably benign Het
Syde2 A G 3: 145,694,381 (GRCm39) T210A probably benign Het
Tcf7l2 C A 19: 55,743,480 (GRCm39) A97E probably benign Het
Tenm3 C T 8: 48,689,474 (GRCm39) D2038N probably damaging Het
Tepsin G A 11: 119,986,190 (GRCm39) T168M probably damaging Het
Tex15 A T 8: 34,047,456 (GRCm39) M178L probably benign Het
Tgfbr2 T C 9: 115,939,119 (GRCm39) N236S probably damaging Het
Tnrc18 A G 5: 142,713,744 (GRCm39) V2531A probably damaging Het
Ttn T G 2: 76,725,767 (GRCm39) probably benign Het
Tubgcp3 G T 8: 12,687,000 (GRCm39) D630E probably damaging Het
Ubr4 G A 4: 139,133,839 (GRCm39) W745* probably null Het
Vmn2r115 G A 17: 23,564,989 (GRCm39) G292D probably benign Het
Vmn2r38 T A 7: 9,078,340 (GRCm39) K681* probably null Het
Xrcc6 A G 15: 81,915,375 (GRCm39) K98E probably benign Het
Zfp423 A G 8: 88,530,407 (GRCm39) V13A probably benign Het
Zfp512b A G 2: 181,228,141 (GRCm39) I5T possibly damaging Het
Zmynd8 C T 2: 165,717,670 (GRCm39) E14K probably damaging 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
R0279:Atp8a1 UTSW 5 67,970,435 (GRCm39) splice site probably null
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
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 PCR Primer
(F):5'- CAAAAGTGGATGTCATCAGCTTC -3'
(R):5'- TGAGGCATGTAACTCATCTACTAAG -3'

Sequencing Primer
(F):5'- CAGCTTCGTGCAAAACATCTGTG -3'
(R):5'- AACTCTTACAGGTGTCTGGGGAAC -3'
Posted On 2018-11-28