Incidental Mutation 'R1764:Atp8a1'
ID 193271
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 039796-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1764 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 67788910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1044 (M1044I)
Ref Sequence ENSEMBL: ENSMUSP00000042215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect probably benign
Transcript: ENSMUST00000037380
AA Change: M1044I

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: M1044I

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: M1044I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: M1044I

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 benign
Transcript: ENSMUST00000135930
AA Change: M1029I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: M1029I

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: ENSMUST00000149501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175410
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201718
Meta Mutation Damage Score 0.1047 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.2%
Validation Efficiency 94% (94/100)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,655 (GRCm39) V401A probably benign Het
Abca7 G T 10: 79,844,784 (GRCm39) W1502L probably damaging Het
Adcy7 A G 8: 89,035,468 (GRCm39) E124G probably benign Het
Aif1l G A 2: 31,855,118 (GRCm39) E66K probably benign Het
Aldh8a1 A T 10: 21,271,392 (GRCm39) M373L probably benign Het
Alg6 T C 4: 99,629,815 (GRCm39) Y131H probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Arrdc4 A T 7: 68,391,622 (GRCm39) I215K probably damaging Het
Asb4 A G 6: 5,390,798 (GRCm39) probably null Het
Astn1 T C 1: 158,331,821 (GRCm39) I305T probably benign Het
Atp5f1b T A 10: 127,919,949 (GRCm39) probably benign Het
Atp9b C T 18: 80,952,806 (GRCm39) probably null Het
Brd10 T A 19: 29,696,560 (GRCm39) T978S possibly damaging Het
Btaf1 A G 19: 36,928,518 (GRCm39) H113R probably benign Het
C87436 G T 6: 86,430,594 (GRCm39) C338F possibly damaging Het
Casz1 T C 4: 149,027,357 (GRCm39) probably benign Het
Cbr3 T A 16: 93,487,370 (GRCm39) H184Q probably damaging Het
Cct8l1 T C 5: 25,722,097 (GRCm39) S271P possibly damaging Het
Cdc34 A G 10: 79,521,174 (GRCm39) K77R probably benign Het
Cdc34 G T 10: 79,521,172 (GRCm39) probably null Het
Cdh20 A G 1: 104,862,070 (GRCm39) probably benign Het
Celsr3 A G 9: 108,706,157 (GRCm39) E880G probably damaging Het
Cers1 T G 8: 70,774,141 (GRCm39) probably null Het
Cntn5 T C 9: 9,673,988 (GRCm39) I705V probably benign Het
Dennd4c T A 4: 86,721,247 (GRCm39) D636E probably damaging Het
Dnah11 T C 12: 118,154,560 (GRCm39) E240G probably benign Het
Dnah2 T C 11: 69,314,369 (GRCm39) Y4100C probably damaging Het
Dpysl3 T C 18: 43,496,583 (GRCm39) E151G probably damaging Het
Efcab9 T G 11: 32,474,457 (GRCm39) T9P possibly damaging Het
Eif4g2 A T 7: 110,673,694 (GRCm39) F725Y probably damaging Het
Epha6 T A 16: 59,596,091 (GRCm39) I867F probably null Het
Erbin T C 13: 103,979,959 (GRCm39) probably benign Het
Evi5l A G 8: 4,253,560 (GRCm39) E468G probably damaging Het
Filip1l C T 16: 57,390,401 (GRCm39) R330W probably damaging Het
Fmo3 C T 1: 162,786,142 (GRCm39) V283M possibly damaging Het
Gabarapl1 A T 6: 129,510,481 (GRCm39) K24N possibly damaging Het
Gigyf1 C T 5: 137,520,770 (GRCm39) probably benign Het
Gm5581 T A 6: 131,158,362 (GRCm39) noncoding transcript Het
Gon4l G T 3: 88,799,906 (GRCm39) K850N probably damaging Het
Igf2bp3 C T 6: 49,085,980 (GRCm39) R233H probably damaging Het
Iqcf4 G A 9: 106,445,893 (GRCm39) R85C probably benign Het
Kalrn C T 16: 34,033,243 (GRCm39) R473Q probably damaging Het
Lmod2 T A 6: 24,603,376 (GRCm39) V117E probably damaging Het
Mapk11 A G 15: 89,028,594 (GRCm39) probably null Het
Mcm3 G A 1: 20,876,103 (GRCm39) R664C probably damaging Het
Mex3d A G 10: 80,222,770 (GRCm39) M162T probably benign Het
Mrgprb3 A G 7: 48,292,771 (GRCm39) I260T probably benign Het
Ncor2 G T 5: 125,105,679 (GRCm39) A1637D possibly damaging Het
Nedd4 T A 9: 72,638,189 (GRCm39) D441E probably damaging Het
Nek5 A T 8: 22,599,928 (GRCm39) C194S probably damaging Het
Nos1ap T C 1: 170,146,447 (GRCm39) D369G possibly damaging Het
Ntrk1 G T 3: 87,687,391 (GRCm39) T681K probably damaging Het
Or13a24 T C 7: 140,154,383 (GRCm39) W106R probably damaging Het
Or4f14 A G 2: 111,742,526 (GRCm39) F250L possibly damaging Het
Otogl C T 10: 107,735,322 (GRCm39) W154* probably null Het
Pcdh20 T C 14: 88,706,620 (GRCm39) T227A possibly damaging Het
Pcdhb17 T C 18: 37,620,324 (GRCm39) S705P probably damaging Het
Piezo2 T C 18: 63,257,713 (GRCm39) H335R possibly damaging Het
Pkn2 T C 3: 142,499,615 (GRCm39) Q954R probably damaging Het
Pramel23 C A 4: 143,424,840 (GRCm39) C201F probably benign Het
Prkcq G A 2: 11,237,442 (GRCm39) V74M probably damaging Het
Prkrip1 A T 5: 136,218,489 (GRCm39) probably null Het
Pttg1ip2 A T 5: 5,528,943 (GRCm39) I24N possibly damaging Het
Rb1cc1 A G 1: 6,284,904 (GRCm39) probably benign Het
Rbm5 A T 9: 107,644,763 (GRCm39) Y11* probably null Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Ryr3 C A 2: 112,690,805 (GRCm39) V1082L probably damaging Het
Scart2 A G 7: 139,877,178 (GRCm39) E831G probably benign Het
Sel1l3 C A 5: 53,327,789 (GRCm39) E497* probably null Het
Serpina6 A T 12: 103,620,182 (GRCm39) I189N probably damaging Het
Serpinb11 A T 1: 107,304,532 (GRCm39) T166S probably benign Het
Skint7 T C 4: 111,839,270 (GRCm39) L188S probably benign Het
Slc25a45 C T 19: 5,934,958 (GRCm39) A269V probably damaging Het
Sltm A G 9: 70,469,082 (GRCm39) T114A probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spen C A 4: 141,200,261 (GRCm39) V2766L probably damaging Het
Srgap2 T A 1: 131,247,275 (GRCm39) I445F possibly damaging Het
Stox2 A T 8: 47,647,051 (GRCm39) Y200* probably null Het
Strada C A 11: 106,055,010 (GRCm39) R384L probably damaging Het
Tctn2 G A 5: 124,757,094 (GRCm39) noncoding transcript Het
Tgfbr3l G T 8: 4,299,282 (GRCm39) R461L probably benign Het
Tmem65 A G 15: 58,661,998 (GRCm39) probably benign Het
Tpst1 G T 5: 130,143,343 (GRCm39) V294F possibly damaging Het
Trim23 A G 13: 104,335,126 (GRCm39) Y384C probably damaging Het
Ube3b C G 5: 114,542,678 (GRCm39) L512V possibly damaging Het
Ubxn4 T A 1: 128,183,916 (GRCm39) V92E probably damaging Het
Vmn2r57 A T 7: 41,050,067 (GRCm39) C561S probably damaging Het
Vwa8 A G 14: 79,145,635 (GRCm39) D104G probably damaging Het
Wdr25 T A 12: 108,992,364 (GRCm39) L73* probably null Het
Wnt9a G A 11: 59,221,728 (GRCm39) A209T probably benign Het
Zcchc17 A C 4: 130,223,388 (GRCm39) C133G probably damaging Het
Zdhhc18 T A 4: 133,335,987 (GRCm39) M375L probably benign Het
Zfhx3 T C 8: 109,678,276 (GRCm39) F3109L probably benign Het
Zfp202 T A 9: 40,121,762 (GRCm39) D286E probably benign Het
Zzef1 T C 11: 72,784,158 (GRCm39) L2021P 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
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
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 PCR Primer
(F):5'- GCACAGTTTACATGTTTGGGAACCAC -3'
(R):5'- TCCATCAGCTACCTGAGAGGGAAAAG -3'

Sequencing Primer
(F):5'- TGTTTGGGAACCACAGGGC -3'
(R):5'- GGAAAAGGCGCATAAAGGC -3'
Posted On 2014-05-23