Incidental Mutation 'IGL01608:Atp8a1'
ID 91877
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 # IGL01608
Quality Score
Status
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 67970479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 74 (R74*)
Ref Sequence ENSEMBL: ENSMUSP00000144465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000113651] [ENSMUST00000113652] [ENSMUST00000135930] [ENSMUST00000200955] [ENSMUST00000141443]
AlphaFold P70704
Predicted Effect probably null
Transcript: ENSMUST00000037380
AA Change: R74*
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: R74*

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
AA Change: R74*
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: R74*

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: ENSMUST00000113651
AA Change: R74*
SMART Domains Protein: ENSMUSP00000109281
Gene: ENSMUSG00000037685
AA Change: R74*

DomainStartEndE-ValueType
Blast:CUB 46 87 4e-6 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000113652
AA Change: R74*
SMART Domains Protein: ENSMUSP00000109282
Gene: ENSMUSG00000037685
AA Change: R74*

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 probably null
Transcript: ENSMUST00000135930
AA Change: R74*
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: R74*

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 null
Transcript: ENSMUST00000200955
AA Change: R74*
SMART Domains Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685
AA Change: R74*

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 null
Transcript: ENSMUST00000141443
AA Change: R87*
SMART Domains Protein: ENSMUSP00000121630
Gene: ENSMUSG00000037685
AA Change: R87*

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 51 106 9.6e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202248
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,038,158 (GRCm39) L2068Q probably damaging Het
Abca12 G T 1: 71,298,601 (GRCm39) D2340E probably damaging Het
Adcy5 A G 16: 35,092,535 (GRCm39) Y632C probably damaging Het
Adgrb3 A G 1: 25,592,855 (GRCm39) S311P probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Atf2 G T 2: 73,649,422 (GRCm39) H396Q probably damaging Het
Brpf3 T C 17: 29,040,491 (GRCm39) S971P probably benign Het
Btn1a1 T C 13: 23,645,778 (GRCm39) E197G probably benign Het
Ccdc136 C T 6: 29,406,113 (GRCm39) A87V possibly damaging Het
Celf4 A G 18: 25,630,560 (GRCm39) L376P probably damaging Het
Chrm3 G A 13: 9,928,634 (GRCm39) A134V possibly damaging Het
Col19a1 G A 1: 24,321,626 (GRCm39) R961C probably damaging Het
Cr2 A G 1: 194,837,528 (GRCm39) V1190A possibly damaging Het
Dop1a T A 9: 86,389,614 (GRCm39) S515T probably benign Het
Eprs1 T A 1: 185,117,311 (GRCm39) probably benign Het
Fbn2 G T 18: 58,186,776 (GRCm39) Y1708* probably null Het
Glt1d1 A G 5: 127,741,746 (GRCm39) N148S possibly damaging Het
Gm20425 T A 9: 103,068,293 (GRCm39) I44F probably damaging Het
Gpr22 T A 12: 31,758,779 (GRCm39) K411* probably null Het
Ipo11 A G 13: 106,971,002 (GRCm39) probably benign Het
Klri1 T A 6: 129,675,130 (GRCm39) N210I possibly damaging Het
Kmt2c C T 5: 25,559,809 (GRCm39) V950M probably damaging Het
Knop1 T C 7: 118,445,019 (GRCm39) K315R probably benign Het
Krt90 A G 15: 101,471,064 (GRCm39) I66T probably benign Het
Lrrc32 T A 7: 98,148,564 (GRCm39) V448D probably benign Het
Met T C 6: 17,558,729 (GRCm39) V1119A probably damaging Het
Minar1 T C 9: 89,478,551 (GRCm39) T832A probably benign Het
Mipep T A 14: 61,039,679 (GRCm39) I236N possibly damaging Het
Mrpl45 A G 11: 97,207,747 (GRCm39) T81A probably benign Het
Mtbp G T 15: 55,421,085 (GRCm39) E24* probably null Het
Muc5b C T 7: 141,400,174 (GRCm39) T476I unknown Het
Mup6 C T 4: 60,006,021 (GRCm39) T163I probably benign Het
Myo1g T A 11: 6,466,780 (GRCm39) I278F possibly damaging Het
Myo9a A T 9: 59,778,119 (GRCm39) K1292* probably null Het
Nbeal1 T A 1: 60,281,694 (GRCm39) probably benign Het
Nck1 C A 9: 100,379,440 (GRCm39) R270S probably benign Het
Neb T C 2: 52,060,548 (GRCm39) E6035G probably damaging Het
Nlrp4f A C 13: 65,343,357 (GRCm39) L96* probably null Het
Or11g1 A T 14: 50,651,910 (GRCm39) H303L probably benign Het
Or4a77 A T 2: 89,486,835 (GRCm39) probably benign Het
Or51l14 A T 7: 103,101,011 (GRCm39) I156F probably benign Het
Or5t18 A C 2: 86,636,769 (GRCm39) Y191* probably null Het
Padi2 A G 4: 140,659,541 (GRCm39) E282G probably damaging Het
Pcdhb4 A G 18: 37,441,803 (GRCm39) D371G probably damaging Het
Pcdhb8 A G 18: 37,489,978 (GRCm39) D552G probably damaging Het
Peli3 A G 19: 4,982,855 (GRCm39) I270T probably damaging Het
Phf20 A G 2: 156,118,516 (GRCm39) M407V probably benign Het
Ppm1h C T 10: 122,777,185 (GRCm39) R103* probably null Het
Rangap1 C T 15: 81,593,705 (GRCm39) V457M probably benign Het
Scube2 A G 7: 109,442,461 (GRCm39) V257A probably benign Het
Shc1 C A 3: 89,332,156 (GRCm39) Q204K probably damaging Het
Slc6a4 T A 11: 76,917,961 (GRCm39) Y568N probably damaging Het
Srgap3 A G 6: 112,923,439 (GRCm39) F7L probably benign Het
St6galnac4 T A 2: 32,484,098 (GRCm39) C99S probably damaging Het
Strc T C 2: 121,206,075 (GRCm39) D779G probably benign Het
Supt6 A T 11: 78,116,309 (GRCm39) Y685N probably damaging Het
Traf3ip3 T C 1: 192,869,418 (GRCm39) T256A probably benign Het
Vmn1r74 A T 7: 11,581,560 (GRCm39) I287F probably damaging Het
Zmym2 C A 14: 57,185,472 (GRCm39) Q1035K possibly damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H 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
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
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 2013-12-09