Incidental Mutation 'R7278:Atp8a1'
ID 571540
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 045360-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7278 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67781380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1124 (S1124P)
Ref Sequence ENSEMBL: ENSMUSP00000042215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000142843] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: S1124P

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: S1124P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: S1124P

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 possibly damaging
Transcript: ENSMUST00000135930
AA Change: S1109P

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: S1109P

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 0.1152 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (78/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,771,237 (GRCm39) L142P probably benign Het
Abca13 A T 11: 9,241,126 (GRCm39) R996S possibly damaging Het
Abcb6 A G 1: 75,151,017 (GRCm39) F558L possibly damaging Het
Acp7 T A 7: 28,330,307 (GRCm39) D2V unknown Het
Acvr1c T C 2: 58,174,948 (GRCm39) D280G probably damaging Het
B4galnt1 A T 10: 127,003,657 (GRCm39) T207S probably benign Het
C2cd4d C A 3: 94,271,445 (GRCm39) T237N probably benign Het
C8b T C 4: 104,637,824 (GRCm39) C99R probably damaging Het
Ccnk C A 12: 108,159,964 (GRCm39) Q149K possibly damaging Het
Chfr A G 5: 110,288,226 (GRCm39) D47G probably benign Het
Chid1 A T 7: 141,109,401 (GRCm39) probably null Het
Cibar2 T A 8: 120,895,342 (GRCm39) T187S possibly damaging Het
Cmya5 T A 13: 93,232,208 (GRCm39) E960V probably damaging Het
Col18a1 A G 10: 76,932,118 (GRCm39) S112P unknown Het
Cps1 G A 1: 67,210,080 (GRCm39) V637I probably damaging Het
Crispld1 A G 1: 17,823,102 (GRCm39) T390A probably benign Het
Cyp2c54 A T 19: 40,058,697 (GRCm39) L245* probably null Het
Ddr2 G T 1: 169,812,530 (GRCm39) T654K probably damaging Het
Dnah10 T C 5: 124,868,855 (GRCm39) probably null Het
Elavl4 C T 4: 110,068,622 (GRCm39) probably null Het
Emilin1 T C 5: 31,078,004 (GRCm39) V921A probably benign Het
Evpl T A 11: 116,113,939 (GRCm39) E1250D probably damaging Het
Fam228a C T 12: 4,782,790 (GRCm39) G101E probably benign Het
Gemin4 T C 11: 76,102,932 (GRCm39) T610A probably damaging Het
Glis1 T C 4: 107,292,880 (GRCm39) M1T probably null Het
Gm14399 C T 2: 174,972,252 (GRCm39) probably benign Het
Gorasp2 C T 2: 70,509,849 (GRCm39) T170I probably damaging Het
Gpr37 A G 6: 25,669,341 (GRCm39) V501A possibly damaging Het
Grik4 T A 9: 42,533,356 (GRCm39) Q388L probably benign Het
Hspg2 T A 4: 137,278,436 (GRCm39) D3035E probably damaging Het
Htr4 A T 18: 62,545,247 (GRCm39) N11Y probably benign Het
Itgb2l A G 16: 96,230,243 (GRCm39) S356P probably damaging Het
Klk1b22 A G 7: 43,764,173 (GRCm39) N34D probably benign Het
Lmcd1 A G 6: 112,287,500 (GRCm39) D62G possibly damaging Het
Lrp2 C T 2: 69,316,696 (GRCm39) G2095E probably damaging Het
Macf1 T A 4: 123,334,536 (GRCm39) E4407V possibly damaging Het
Mcm5 T C 8: 75,851,487 (GRCm39) F631L probably benign Het
Mov10l1 A G 15: 88,878,071 (GRCm39) S170G probably benign Het
Muc5b A T 7: 141,411,239 (GRCm39) D1395V unknown Het
Muc6 G A 7: 141,226,842 (GRCm39) T1395M probably benign Het
Myh15 A G 16: 48,911,468 (GRCm39) D300G probably damaging Het
Naa80 T C 9: 107,460,498 (GRCm39) L131P probably damaging Het
Ndst4 A G 3: 125,231,952 (GRCm39) T174A probably benign Het
Nek5 T A 8: 22,580,500 (GRCm39) N406I probably benign Het
Nr2c2 G A 6: 92,136,359 (GRCm39) V400I probably damaging Het
Or1l4 T C 2: 37,092,092 (GRCm39) Y280H probably damaging Het
Or1l4b G T 2: 37,037,021 (GRCm39) V266L probably benign Het
Or51aa2 A T 7: 103,187,935 (GRCm39) Y169N probably benign Het
Or52m1 T C 7: 102,290,190 (GRCm39) S246P probably damaging Het
Or6b1 G A 6: 42,811,330 (GRCm39) probably null Het
Or6c5c T A 10: 129,298,620 (GRCm39) I25N probably damaging Het
Parn T C 16: 13,443,927 (GRCm39) probably null Het
Pfkl T C 10: 77,827,857 (GRCm39) T468A probably damaging Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Plce1 T C 19: 38,768,340 (GRCm39) I2205T possibly damaging Het
Prss16 A T 13: 22,187,317 (GRCm39) N442K probably damaging Het
Pus7 A G 5: 23,957,342 (GRCm39) S370P probably damaging Het
Ripk3 G T 14: 56,024,741 (GRCm39) Y210* probably null Het
Rps6ka2 C A 17: 7,539,034 (GRCm39) F317L probably damaging Het
Slc13a3 G A 2: 165,287,448 (GRCm39) R169W possibly damaging Het
Slc6a21 T A 7: 44,931,904 (GRCm39) I256N possibly damaging Het
Slc6a9 G A 4: 117,725,303 (GRCm39) R589Q probably benign Het
Slc8a2 T C 7: 15,875,077 (GRCm39) S442P probably damaging Het
Snupn T A 9: 56,890,028 (GRCm39) M283K probably damaging Het
Steap3 A T 1: 120,162,087 (GRCm39) M395K probably damaging Het
Sv2b G A 7: 74,797,402 (GRCm39) P331S probably damaging Het
Tlr1 A G 5: 65,084,115 (GRCm39) V154A probably benign Het
Tmem131 A G 1: 36,835,382 (GRCm39) S1580P probably damaging Het
Tmem51 TCCCC TCCC 4: 141,764,996 (GRCm39) probably null Het
Trav14d-3-dv8 G A 14: 53,316,218 (GRCm39) R26H probably benign Het
Trp53 C T 11: 69,482,081 (GRCm39) L365F probably benign Het
Trp53bp1 A T 2: 121,029,516 (GRCm39) I1838N probably damaging Het
Ugt1a5 A T 1: 88,094,608 (GRCm39) K279* probably null Het
Unc80 A G 1: 66,591,368 (GRCm39) E1141G possibly damaging Het
Vti1b T C 12: 79,213,153 (GRCm39) D49G probably benign Het
Wnt10a A T 1: 74,832,641 (GRCm39) H78L possibly damaging Het
Zfp869 G A 8: 70,159,128 (GRCm39) H482Y probably damaging Het
Zfyve1 A G 12: 83,598,314 (GRCm39) V638A 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
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
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'- CTCCAAGGAATGTAAAGACAGC -3'
(R):5'- GGGAAATGGCTTCAGAAGTGTC -3'

Sequencing Primer
(F):5'- AACTGGGAGGTGGTGTAGCC -3'
(R):5'- ACAGTGGGTCTCACACTT -3'
Posted On 2019-09-13