Incidental Mutation 'R7722:Atp8a1'
ID 595275
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 045778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7722 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 67780041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000142843] [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 probably benign
Transcript: ENSMUST00000142843
SMART Domains Protein: ENSMUSP00000138599
Gene: ENSMUSG00000050010

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Shisa 23 100 2.6e-24 PFAM
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
Meta Mutation Damage Score 0.9493 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,029,231 (GRCm39) E151G probably benign Het
Alpk2 A T 18: 65,483,228 (GRCm39) L260H probably damaging Het
Amh T C 10: 80,642,458 (GRCm39) V247A probably benign Het
Ank2 T A 3: 126,822,951 (GRCm39) I431L probably benign Het
Ano7 G A 1: 93,318,145 (GRCm39) A286T probably damaging Het
Brd1 A T 15: 88,613,762 (GRCm39) S378T probably damaging Het
Clrn1 T A 3: 58,753,755 (GRCm39) N202I possibly damaging Het
Cspp1 T C 1: 10,145,126 (GRCm39) V308A probably benign Het
Cyp2a5 T C 7: 26,536,543 (GRCm39) L174P probably benign Het
Ehbp1 G A 11: 22,039,572 (GRCm39) H843Y probably null Het
Fancm T A 12: 65,153,235 (GRCm39) D1230E probably damaging Het
Fbxl17 A T 17: 63,663,823 (GRCm39) N555K probably damaging Het
Fmnl2 A C 2: 52,944,479 (GRCm39) S153R Het
Fras1 G A 5: 96,917,413 (GRCm39) V3478M probably damaging Het
Gnptab T C 10: 88,215,390 (GRCm39) F37S probably damaging Het
Gpr183 T G 14: 122,192,270 (GRCm39) I84L probably damaging Het
Hcn1 A G 13: 118,039,314 (GRCm39) H410R unknown Het
Hmcn1 A G 1: 150,543,631 (GRCm39) V2848A probably damaging Het
Hmcn2 A T 2: 31,272,512 (GRCm39) R1331* probably null Het
Hsd17b4 A C 18: 50,279,591 (GRCm39) N190T probably damaging Het
Itprid2 T C 2: 79,492,689 (GRCm39) S1079P probably damaging Het
Kif14 A G 1: 136,396,033 (GRCm39) D113G probably benign Het
Kmt2e T G 5: 23,702,016 (GRCm39) D881E probably benign Het
Lamb1 T A 12: 31,373,570 (GRCm39) L1481Q probably damaging Het
Limk2 T C 11: 3,306,092 (GRCm39) probably null Het
Luc7l2 T A 6: 38,580,243 (GRCm39) S281T unknown Het
Map3k5 A G 10: 20,007,891 (GRCm39) D1240G probably benign Het
Med13l C A 5: 118,885,472 (GRCm39) T1475K probably benign Het
Med17 G T 9: 15,182,987 (GRCm39) Q353K probably benign Het
Mlh3 A G 12: 85,314,266 (GRCm39) V640A probably benign Het
Mms22l T A 4: 24,517,201 (GRCm39) Y361N probably damaging Het
Mtmr2 T A 9: 13,716,104 (GRCm39) N532K probably benign Het
Mtss1 G A 15: 58,926,935 (GRCm39) T47I probably damaging Het
Mturn T C 6: 54,676,545 (GRCm39) probably null Het
Muc20 A C 16: 32,617,756 (GRCm39) S3A probably benign Het
Nde1 T C 16: 14,008,128 (GRCm39) Y164H unknown Het
Neurl1b A G 17: 26,660,132 (GRCm39) T451A probably benign Het
Or52u1 C A 7: 104,237,505 (GRCm39) Q165K possibly damaging Het
Or8g18 A T 9: 39,148,885 (GRCm39) Y278* probably null Het
Pgap3 G A 11: 98,281,610 (GRCm39) A196V probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scart1 C A 7: 139,802,299 (GRCm39) C209* probably null Het
Sdcbp T A 4: 6,385,063 (GRCm39) V94E possibly damaging Het
Sgo2a T G 1: 58,055,696 (GRCm39) F627V probably benign Het
Skor2 A C 18: 76,950,339 (GRCm39) N889T probably benign Het
Slc35f4 A T 14: 49,543,731 (GRCm39) N288K probably benign Het
Slc9b2 T A 3: 135,035,596 (GRCm39) V355E probably null Het
Smarcc2 A G 10: 128,317,597 (GRCm39) E566G possibly damaging Het
Sorcs2 T C 5: 36,200,871 (GRCm39) E559G probably damaging Het
Sphkap T C 1: 83,256,642 (GRCm39) D369G probably benign Het
Stc1 T A 14: 69,269,729 (GRCm39) I103N possibly damaging Het
Stx8 T C 11: 68,094,544 (GRCm39) V219A probably damaging Het
Tg C T 15: 66,636,158 (GRCm39) R582C possibly damaging Het
Tshz2 T A 2: 169,727,192 (GRCm39) L596Q probably benign Het
Tti1 A G 2: 157,849,527 (GRCm39) Y571H probably benign Het
Zbtb40 A G 4: 136,718,829 (GRCm39) I956T probably damaging Het
Zfp990 A C 4: 145,263,532 (GRCm39) N177H 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
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
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'- ACCAGACTGGAATTGGTCAGC -3'
(R):5'- TAGGGGATGTACACTGGCAG -3'

Sequencing Primer
(F):5'- CAGGTTACAGTGATGACCTTAGACTG -3'
(R):5'- TGTACACTGGCAGCCGCTG -3'
Posted On 2019-11-12