Incidental Mutation 'IGL02598:Atp8a1'
ID 299976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02598
Quality Score
Status
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 67840099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect probably null
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 null
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 null
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: ENSMUST00000155911
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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,834,448 (GRCm39) M1K probably null Het
Abca13 C T 11: 9,381,898 (GRCm39) T3850I probably damaging Het
Abcc4 A T 14: 118,905,781 (GRCm39) L95* probably null Het
Acacb A G 5: 114,384,098 (GRCm39) Y2209C probably damaging Het
Acadm A G 3: 153,644,181 (GRCm39) probably benign Het
Arid2 G A 15: 96,269,417 (GRCm39) V1177M probably damaging Het
Catsperd A G 17: 56,954,815 (GRCm39) probably null Het
Cd28 A G 1: 60,802,498 (GRCm39) probably benign Het
Cep164 A G 9: 45,682,002 (GRCm39) Y1934H probably damaging Het
Cep350 T C 1: 155,738,713 (GRCm39) I2377V probably benign Het
Csmd3 T C 15: 47,533,086 (GRCm39) K1581E probably damaging Het
Dab2 A T 15: 6,458,847 (GRCm39) N232I probably damaging Het
Dyrk4 G A 6: 126,860,982 (GRCm39) probably benign Het
Efcab14 T A 4: 115,597,631 (GRCm39) C75* probably null Het
Elovl1 T C 4: 118,288,616 (GRCm39) probably null Het
Eps8l2 T G 7: 140,934,849 (GRCm39) probably benign Het
Grik1 A T 16: 87,744,872 (GRCm39) V460E probably damaging Het
Gtf2f2 A G 14: 76,245,182 (GRCm39) S35P probably benign Het
Ifi203 A G 1: 173,762,568 (GRCm39) probably benign Het
Ifi209 T C 1: 173,472,281 (GRCm39) V374A probably damaging Het
Kics2 G A 10: 121,575,876 (GRCm39) probably benign Het
Lars1 A G 18: 42,360,342 (GRCm39) S705P possibly damaging Het
Lcmt1 A G 7: 123,020,871 (GRCm39) probably benign Het
Limd1 T C 9: 123,345,933 (GRCm39) S571P probably benign Het
Limd1 T A 9: 123,309,236 (GRCm39) Y312N probably benign Het
Lin28b A T 10: 45,296,622 (GRCm39) D125E possibly damaging Het
Lmtk3 T C 7: 45,442,564 (GRCm39) S416P probably damaging Het
Map7d3 T C X: 55,855,146 (GRCm39) T446A probably benign Het
Masp1 T A 16: 23,278,381 (GRCm39) M523L probably benign Het
Mroh4 C A 15: 74,483,092 (GRCm39) probably null Het
Mtmr6 G A 14: 60,537,953 (GRCm39) A651T probably damaging Het
Myocd A G 11: 65,074,296 (GRCm39) S738P probably benign Het
Or10a2 A T 7: 106,673,923 (GRCm39) N296I possibly damaging Het
Or4d5 A T 9: 40,011,861 (GRCm39) F308L probably benign Het
Or52l1 A G 7: 104,830,163 (GRCm39) V134A probably damaging Het
Or5d46 A T 2: 88,170,595 (GRCm39) I229F possibly damaging Het
Or6c3b A T 10: 129,527,142 (GRCm39) I256N possibly damaging Het
Parg G T 14: 31,936,281 (GRCm39) V479L probably damaging Het
Pcdhb10 C A 18: 37,546,834 (GRCm39) H637N possibly damaging Het
Plekhg2 G A 7: 28,059,900 (GRCm39) T1118I possibly damaging Het
Podxl T C 6: 31,501,355 (GRCm39) E400G probably damaging Het
Prss54 C A 8: 96,292,337 (GRCm39) V81F probably damaging Het
Pzp A G 6: 128,464,420 (GRCm39) L1369P probably benign Het
Rfx8 A T 1: 39,735,128 (GRCm39) probably benign Het
Rgs6 C T 12: 83,138,571 (GRCm39) P302S probably benign Het
Rnf148 A C 6: 23,654,456 (GRCm39) I180S probably damaging Het
Sacm1l A G 9: 123,408,061 (GRCm39) D350G probably benign Het
Slc33a1 C T 3: 63,850,753 (GRCm39) G524S probably benign Het
Slc5a7 A G 17: 54,591,221 (GRCm39) V237A probably benign Het
Spink7 T C 18: 62,727,356 (GRCm39) D56G probably damaging Het
Syn3 A G 10: 86,303,063 (GRCm39) S31P probably damaging Het
Tesl1 A T X: 23,773,710 (GRCm39) T404S probably benign Het
Thrb C A 14: 18,008,606 (GRCm38) P110Q possibly damaging Het
Vmn2r76 G T 7: 85,877,879 (GRCm39) T506K probably benign Het
Vps45 A G 3: 95,938,354 (GRCm39) L486P probably benign Het
Zan G A 5: 137,444,473 (GRCm39) T1823M unknown Het
Zdhhc6 T A 19: 55,302,959 (GRCm39) Q14L probably benign Het
Zfp990 A T 4: 145,263,533 (GRCm39) N177I 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
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
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
Posted On 2015-04-16