Incidental Mutation 'R0329:Atp8a1'
ID 65093
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 038538-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0329 (G1)
Quality Score 104
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 67969416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000113651] [ENSMUST00000113652] [ENSMUST00000200955] [ENSMUST00000135930] [ENSMUST00000141443]
AlphaFold P70704
Predicted Effect probably benign
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 benign
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 benign
Transcript: ENSMUST00000113651
SMART Domains Protein: ENSMUSP00000109281
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Blast:CUB 46 87 4e-6 BLAST
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000143013
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 probably benign
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 noncoding transcript
Transcript: ENSMUST00000202248
Predicted Effect probably benign
Transcript: ENSMUST00000141443
SMART Domains Protein: ENSMUSP00000121630
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 51 106 9.6e-22 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.0%
Validation Efficiency 99% (107/108)
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,349,430 (GRCm39) H3668L probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adam28 T C 14: 68,855,188 (GRCm39) K651R probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arb2a T A 13: 77,910,070 (GRCm39) probably benign Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Casp12 T A 9: 5,345,534 (GRCm39) probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cdhr2 T A 13: 54,882,614 (GRCm39) probably benign Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cnnm1 C T 19: 43,430,349 (GRCm39) P489L probably damaging Het
Cntnap1 A T 11: 101,079,135 (GRCm39) D1175V probably damaging Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Crcp C A 5: 130,071,083 (GRCm39) Q61K possibly damaging Het
Crppa C T 12: 36,431,837 (GRCm39) A22V possibly damaging Het
Dcaf8 T A 1: 172,014,978 (GRCm39) D414E probably benign Het
Ddx28 T C 8: 106,736,877 (GRCm39) T394A probably benign Het
Ddx55 T C 5: 124,697,210 (GRCm39) F191L probably benign Het
Dnaaf1 T C 8: 120,322,756 (GRCm39) probably benign Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elf5 A G 2: 103,260,765 (GRCm39) probably benign Het
Emcn T A 3: 137,122,575 (GRCm39) probably benign Het
Erbb4 T C 1: 68,337,439 (GRCm39) probably benign Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Etfdh T C 3: 79,517,151 (GRCm39) I353V probably benign Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fbxl12 C T 9: 20,549,776 (GRCm39) G316D probably damaging Het
Gbf1 G A 19: 46,260,709 (GRCm39) probably null Het
Gbp2b T G 3: 142,313,937 (GRCm39) S406A probably benign Het
Gli3 T G 13: 15,898,143 (GRCm39) L741R probably damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gp1ba A G 11: 70,531,235 (GRCm39) probably benign Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Hectd4 T C 5: 121,397,927 (GRCm39) I285T probably benign Het
Hrh4 A G 18: 13,140,302 (GRCm39) probably benign Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Hspa13 A T 16: 75,562,018 (GRCm39) D60E probably damaging Het
Htt T A 5: 34,974,478 (GRCm39) probably benign Het
Iqca1l T C 5: 24,750,783 (GRCm39) probably null Het
Kif14 G C 1: 136,423,764 (GRCm39) probably benign Het
Kit T G 5: 75,813,489 (GRCm39) V888G probably damaging Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrriq4 T C 3: 30,709,873 (GRCm39) S406P probably benign Het
Man2c1 T C 9: 57,048,467 (GRCm39) V777A probably benign Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myo9a C G 9: 59,830,960 (GRCm39) T2368S probably damaging Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Npm3 A G 19: 45,737,965 (GRCm39) F11L probably benign Het
Nutf2 T A 8: 106,602,995 (GRCm39) S37T probably damaging Het
Obscn T A 11: 58,931,267 (GRCm39) I5790F probably damaging Het
Obscn A T 11: 58,943,332 (GRCm39) D4833E probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7d9 T A 9: 20,197,153 (GRCm39) S61T possibly damaging Het
Or8g35 T C 9: 39,381,852 (GRCm39) T57A possibly damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcdhb1 A G 18: 37,400,077 (GRCm39) D676G possibly damaging Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Pdk1 T C 2: 71,726,018 (GRCm39) probably benign Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Pidd1 A T 7: 141,019,474 (GRCm39) probably benign Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Pot1a A G 6: 25,778,830 (GRCm39) probably benign Het
Prdm5 T C 6: 65,839,887 (GRCm39) probably benign Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pyroxd1 A G 6: 142,307,702 (GRCm39) I491V probably benign Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Slc9b1 C T 3: 135,078,996 (GRCm39) R218* probably null Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stat4 A G 1: 52,130,029 (GRCm39) probably benign Het
Steap4 T C 5: 8,025,829 (GRCm39) V130A possibly damaging Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tgm4 T C 9: 122,877,622 (GRCm39) probably null Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Tmem145 A G 7: 25,008,099 (GRCm39) probably benign Het
Tsacc A G 3: 88,190,169 (GRCm39) S94P possibly damaging Het
Tshz3 T A 7: 36,469,458 (GRCm39) D482E probably benign Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Ugt2b35 A G 5: 87,151,264 (GRCm39) K290R probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Usp10 T A 8: 120,663,296 (GRCm39) C39* probably null Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r7 C A 3: 64,598,439 (GRCm39) C797F probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Wdr27 A G 17: 15,154,721 (GRCm39) probably benign Het
Ythdc2 A G 18: 44,998,127 (GRCm39) probably benign Het
Zcwpw2 C A 9: 117,843,123 (GRCm39) noncoding transcript Het
Zdhhc1 C A 8: 106,210,175 (GRCm39) A81S probably benign Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q 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
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 PCR Primer
(F):5'- TCAAGGCATCTAATAAGGTGAAAACCCC -3'
(R):5'- GGAGGAATGTTTTAGAAGAGCCTGTGAC -3'

Sequencing Primer
(F):5'- ccaggctgacctcgaac -3'
(R):5'- GAAGAGCCTGTGACATTATTCTC -3'
Posted On 2013-08-08