Incidental Mutation 'R7218:Atp8a1'
ID 561580
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 045290-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7218 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67860324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 717 (D717V)
Ref Sequence ENSEMBL: ENSMUSP00000042215 (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: D717V

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 possibly damaging
Transcript: ENSMUST00000072971
AA Change: D717V

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: D717V

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 possibly damaging
Transcript: ENSMUST00000135930
AA Change: D702V

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: D702V

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik T C 17: 46,043,977 (GRCm39) T94A unknown Het
1700025G04Rik T C 1: 151,791,259 (GRCm39) R101G probably damaging Het
6430548M08Rik T A 8: 120,872,322 (GRCm39) S83R probably damaging Het
Actn2 A G 13: 12,293,799 (GRCm39) S574P probably benign Het
Ank A T 15: 27,544,407 (GRCm39) Y56F probably damaging Het
Ano7 A G 1: 93,308,191 (GRCm39) D74G probably benign Het
Apaf1 T A 10: 90,872,864 (GRCm39) T738S probably damaging Het
Apcs A T 1: 172,722,231 (GRCm39) D38E possibly damaging Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Baiap2l1 A G 5: 144,212,687 (GRCm39) S443P probably benign Het
Bmal1 A T 7: 112,886,390 (GRCm39) H149L probably damaging Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
C1qtnf6 T C 15: 78,411,574 (GRCm39) E34G probably benign Het
Chil3 A C 3: 106,067,853 (GRCm39) probably null Het
Chmp4c T A 3: 10,432,198 (GRCm39) L36Q probably damaging Het
Chrna2 T A 14: 66,381,320 (GRCm39) probably null Het
Clec1a C T 6: 129,413,918 (GRCm39) C57Y probably damaging Het
Clec7a G T 6: 129,445,885 (GRCm39) T95K probably damaging Het
Csf1r C A 18: 61,263,396 (GRCm39) S926R probably damaging Het
Dnajc9 A G 14: 20,438,507 (GRCm39) I61T probably benign Het
Extl1 T G 4: 134,087,080 (GRCm39) S493R probably benign Het
Fance A G 17: 28,545,148 (GRCm39) D143G probably benign Het
Fcho2 C T 13: 98,890,121 (GRCm39) probably null Het
Filip1 T C 9: 79,725,356 (GRCm39) S1088G probably benign Het
Gnat1 A C 9: 107,553,184 (GRCm39) M319R possibly damaging Het
Gpr132 A T 12: 112,816,049 (GRCm39) V259E probably damaging Het
Gprc5d T A 6: 135,093,452 (GRCm39) M152L probably benign Het
Hif3a C T 7: 16,784,513 (GRCm39) R244H probably damaging Het
Hivep3 T C 4: 119,952,649 (GRCm39) S322P possibly damaging Het
Il33 T A 19: 29,936,325 (GRCm39) F229I probably damaging Het
Il4ra A G 7: 125,174,950 (GRCm39) D386G probably benign Het
Ino80 G T 2: 119,288,608 (GRCm39) H33N probably benign Het
Ip6k1 A G 9: 107,922,781 (GRCm39) D228G unknown Het
Mamdc2 C T 19: 23,424,974 (GRCm39) A40T probably benign Het
Meis3 T C 7: 15,918,626 (GRCm39) V357A probably benign Het
Mycbp2 T C 14: 103,371,282 (GRCm39) T4199A probably benign Het
Myo7b A T 18: 32,114,054 (GRCm39) M1099K probably benign Het
Mzb1 A T 18: 35,780,975 (GRCm39) H104Q probably benign Het
Nfatc2 A G 2: 168,413,184 (GRCm39) L167P probably benign Het
Numa1 A T 7: 101,650,117 (GRCm39) S1283C probably benign Het
Nup98 T G 7: 101,841,107 (GRCm39) probably null Het
Or13p4 T C 4: 118,547,215 (GRCm39) I145V probably benign Het
Or5p55 T C 7: 107,566,874 (GRCm39) L90P probably benign Het
Pkhd1l1 A G 15: 44,386,091 (GRCm39) T1243A possibly damaging Het
Pramel39-ps C A 5: 94,451,113 (GRCm39) V338F probably benign Het
Ptpro C T 6: 137,431,596 (GRCm39) R1152W probably damaging Het
Ptprt T C 2: 161,389,284 (GRCm39) T1270A probably damaging Het
Pwwp2b A C 7: 138,836,049 (GRCm39) T497P probably damaging Het
Rab44 T A 17: 29,358,418 (GRCm39) V202E Het
Rbfox1 C T 16: 7,111,947 (GRCm39) T191I probably damaging Het
Rufy4 A G 1: 74,172,174 (GRCm39) K299R probably damaging Het
Snip1 T A 4: 124,966,712 (GRCm39) S381T probably damaging Het
Spen T C 4: 141,199,961 (GRCm39) I2889V possibly damaging Het
Spopfm2 A T 3: 94,082,856 (GRCm39) H318Q possibly damaging Het
St3gal3 T A 4: 117,814,639 (GRCm39) D218V Het
Sun1 A G 5: 139,212,442 (GRCm39) T70A unknown Het
Tbc1d23 C T 16: 56,990,745 (GRCm39) V678M probably damaging Het
Tdh T A 14: 63,733,206 (GRCm39) Y195F probably damaging Het
Tescl C T 7: 24,033,286 (GRCm39) R13H possibly damaging Het
Tfap2c T A 2: 172,399,277 (GRCm39) M508K probably benign Het
Trappc4 A G 9: 44,316,587 (GRCm39) M136T probably benign Het
Tyk2 A G 9: 21,016,350 (GRCm39) C1207R probably damaging Het
Ugt2b36 T C 5: 87,229,398 (GRCm39) Y355C probably damaging Het
Vmn1r119 T A 7: 20,745,572 (GRCm39) H270L probably benign Het
Vmn2r20 G A 6: 123,363,074 (GRCm39) P570L probably damaging Het
Wnk1 A C 6: 119,979,234 (GRCm39) Y284* probably null Het
Yars2 C T 16: 16,121,182 (GRCm39) A112V probably damaging Het
Zer1 T C 2: 29,995,024 (GRCm39) N470S probably damaging Het
Zfp747l1 A T 7: 126,983,852 (GRCm39) S417T probably benign Het
Zfp879 A C 11: 50,723,508 (GRCm39) V516G possibly 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
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
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'- TGAAGCAGCTTTCCTGTCCC -3'
(R):5'- TCGCAATCAAATCCTCTCTAGG -3'

Sequencing Primer
(F):5'- TTTAGTTACCACAGTGGCAAAGCG -3'
(R):5'- GCAATCAAATCCTCTCTAGGTGTTTG -3'
Posted On 2019-06-26