Incidental Mutation 'R4426:Atp8a1'
ID 328155
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 041697-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4426 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 67932171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 206 (I206S)
Ref Sequence ENSEMBL: ENSMUSP00000144465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect probably benign
Transcript: ENSMUST00000037380
AA Change: I206S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: I206S

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 benign
Transcript: ENSMUST00000072971
AA Change: I206S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: I206S

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 noncoding transcript
Transcript: ENSMUST00000130652
Predicted Effect probably benign
Transcript: ENSMUST00000135930
AA Change: I206S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: I206S

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 noncoding transcript
Transcript: ENSMUST00000155911
Predicted Effect probably benign
Transcript: ENSMUST00000200955
AA Change: I206S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685
AA Change: I206S

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Albfm1 G T 5: 90,720,642 (GRCm39) C271F probably damaging Het
Arhgef39 C T 4: 43,497,112 (GRCm39) G293E possibly damaging Het
Cacnb2 A T 2: 14,980,026 (GRCm39) R290* probably null Het
Ccdc137 T C 11: 120,351,074 (GRCm39) S159P probably damaging Het
Chil5 A G 3: 105,926,943 (GRCm39) S231P probably damaging Het
Cic C T 7: 24,993,433 (GRCm39) probably benign Het
Csmd3 A G 15: 47,532,581 (GRCm39) V2434A possibly damaging Het
Csnk1a1 A G 18: 61,718,381 (GRCm39) probably benign Het
Eif4e1b T C 13: 54,932,296 (GRCm39) S49P probably benign Het
Far1 C A 7: 113,149,208 (GRCm39) P194Q probably benign Het
Fut4 T C 9: 14,662,677 (GRCm39) T206A possibly damaging Het
Galnt7 G T 8: 58,005,606 (GRCm39) S209* probably null Het
Gas2l1 A G 11: 5,013,908 (GRCm39) V184A probably benign Het
Herc1 T C 9: 66,403,287 (GRCm39) L4402P probably damaging Het
Hoxa13 C A 6: 52,237,714 (GRCm39) probably benign Het
Ighv1-9 T A 12: 114,547,416 (GRCm39) K42* probably null Het
Kif20a C T 18: 34,764,994 (GRCm39) R743W probably damaging Het
Lama2 G A 10: 27,298,554 (GRCm39) R181C probably damaging Het
Lrp2 G T 2: 69,336,692 (GRCm39) T1360K probably benign Het
Map4k1 G A 7: 28,688,020 (GRCm39) V177I probably damaging Het
Nbea G A 3: 55,989,800 (GRCm39) T352I probably damaging Het
Nde1 A G 16: 14,006,200 (GRCm39) T82A possibly damaging Het
Nes A G 3: 87,883,349 (GRCm39) E536G probably damaging Het
Nms C T 1: 38,978,377 (GRCm39) P4L probably benign Het
Nrip1 T C 16: 76,088,293 (GRCm39) Q1088R possibly damaging Het
Nwd1 A G 8: 73,393,423 (GRCm39) K229E probably damaging Het
Or51f1d T C 7: 102,701,018 (GRCm39) L171P probably damaging Het
Or52ad1 A G 7: 102,995,290 (GRCm39) Y282H probably damaging Het
Pcdhac2 T A 18: 37,277,796 (GRCm39) S259T probably benign Het
Pdcd5 T C 7: 35,345,605 (GRCm39) D102G possibly damaging Het
Pgm1 T C 4: 99,819,337 (GRCm39) V169A probably benign Het
Pitpnm2 C T 5: 124,280,186 (GRCm39) E121K probably benign Het
Plin3 T C 17: 56,593,555 (GRCm39) Y53C probably damaging Het
Poc1b T C 10: 98,991,001 (GRCm39) probably null Het
Polr2c A T 8: 95,590,090 (GRCm39) N232Y probably damaging Het
Ppp1r9b A T 11: 94,892,150 (GRCm39) R188S possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rab3gap2 G A 1: 184,967,539 (GRCm39) S141N probably damaging Het
Radx T C X: 138,381,645 (GRCm39) V134A possibly damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rnf166 A G 8: 123,196,979 (GRCm39) L91P probably damaging Het
Robo2 T A 16: 73,745,154 (GRCm39) M200L probably damaging Het
Rp1 A T 1: 4,418,147 (GRCm39) H988Q probably benign Het
Sbno2 T C 10: 79,908,192 (GRCm39) K69R probably null Het
Sgce G A 6: 4,691,459 (GRCm39) A295V probably damaging Het
Shc3 C G 13: 51,634,130 (GRCm39) probably null Het
Slc44a1 T C 4: 53,563,286 (GRCm39) V671A probably benign Het
Sptbn4 A C 7: 27,123,223 (GRCm39) L233R probably damaging Het
Stx5a A G 19: 8,727,104 (GRCm39) T252A probably benign Het
Timd6 T A 11: 46,475,247 (GRCm39) F147L probably benign Het
Tmem87b C T 2: 128,688,670 (GRCm39) A485V probably benign Het
Tns1 A G 1: 74,024,908 (GRCm39) I403T probably damaging Het
Ttll10 G C 4: 156,133,018 (GRCm39) T22R possibly damaging Het
Uevld A T 7: 46,589,890 (GRCm39) S293T probably benign Het
Utp18 T C 11: 93,757,264 (GRCm39) N467D probably damaging Het
Vmn1r39 A T 6: 66,782,345 (GRCm39) probably null Het
Vmn2r106 A G 17: 20,505,641 (GRCm39) S18P probably benign Het
Vmn2r61 A T 7: 41,950,157 (GRCm39) H859L probably benign Het
Vmn2r61 T C 7: 41,950,159 (GRCm39) S860P probably benign Het
Vmn2r72 G A 7: 85,387,036 (GRCm39) R843* probably null Het
Vwc2 A G 11: 11,104,235 (GRCm39) T256A probably damaging Het
Zfp715 T C 7: 42,960,516 (GRCm39) D25G 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
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 PCR Primer
(F):5'- TCAGTATCTAGAACAGGAGACAACC -3'
(R):5'- TGTGCTAAAAGTCTGTGCTCAC -3'

Sequencing Primer
(F):5'- CAACCTTGTGTCAGCAGATG -3'
(R):5'- CTAAAAGTCTGTGCTCACATGGAG -3'
Posted On 2015-07-07