Incidental Mutation 'R5267:Atp8a1'
ID 401756
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 042859-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5267 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67919887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 393 (T393I)
Ref Sequence ENSEMBL: ENSMUSP00000144465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect probably damaging
Transcript: ENSMUST00000037380
AA Change: T393I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: T393I

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 damaging
Transcript: ENSMUST00000072971
AA Change: T393I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: T393I

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 damaging
Transcript: ENSMUST00000135930
AA Change: T393I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: T393I

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: ENSMUST00000152433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155911
Predicted Effect probably damaging
Transcript: ENSMUST00000200955
AA Change: T393I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144465
Gene: ENSMUSG00000037685
AA Change: T393I

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 38 101 7.5e-25 PFAM
Pfam:E1-E2_ATPase 106 371 3.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201074
Meta Mutation Damage Score 0.8218 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 98% (86/88)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,374,933 (GRCm39) probably benign Het
Adam15 T G 3: 89,257,206 (GRCm39) probably benign Het
Albfm1 T C 5: 90,732,716 (GRCm39) F509S probably damaging Het
Atp12a T C 14: 56,621,668 (GRCm39) S768P probably damaging Het
B4galnt4 T G 7: 140,650,524 (GRCm39) I3S probably damaging Het
Bfsp1 G A 2: 143,668,971 (GRCm39) T536I probably benign Het
Brsk1 G T 7: 4,707,708 (GRCm39) W284L probably damaging Het
Cadm3 A T 1: 173,164,669 (GRCm39) D370E probably damaging Het
Cadps2 A G 6: 23,626,667 (GRCm39) I207T possibly damaging Het
Calr4 A C 4: 109,101,273 (GRCm39) T52P probably damaging Het
Catsperg2 G A 7: 29,416,491 (GRCm39) T307M probably damaging Het
Ckap5 T A 2: 91,422,097 (GRCm39) N1166K probably null Het
Clca4a G A 3: 144,659,573 (GRCm39) T761I probably damaging Het
Cnksr3 A T 10: 7,076,633 (GRCm39) probably null Het
Diaph3 A G 14: 86,893,989 (GRCm39) S7P probably benign Het
Dnah7a G A 1: 53,518,851 (GRCm39) P2969S probably damaging Het
Dnai2 A T 11: 114,631,293 (GRCm39) T221S probably benign Het
Dsc2 A G 18: 20,167,640 (GRCm39) probably null Het
Eif4g1 A G 16: 20,504,283 (GRCm39) N789S probably damaging Het
Fn1 C T 1: 71,668,863 (GRCm39) R694H probably damaging Het
Gm5478 G A 15: 101,552,837 (GRCm39) R365C probably damaging Het
Gm5591 A T 7: 38,218,338 (GRCm39) M845K possibly damaging Het
Gm5800 A T 14: 51,951,294 (GRCm39) probably null Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
H2-Q2 A T 17: 35,562,155 (GRCm39) Y134F probably benign Het
Hcfc1r1 A G 17: 23,893,648 (GRCm39) R76G possibly damaging Het
Hectd4 T C 5: 121,482,887 (GRCm39) I3146T probably benign Het
Herc1 G T 9: 66,369,091 (GRCm39) L2928F probably damaging Het
Hmx3 C T 7: 131,145,898 (GRCm39) A202V probably benign Het
Ikzf3 A T 11: 98,381,406 (GRCm39) M58K probably benign Het
Il20ra A G 10: 19,625,107 (GRCm39) T129A probably damaging Het
Il21 T C 3: 37,281,946 (GRCm39) H66R probably benign Het
Kcnh5 A T 12: 75,134,190 (GRCm39) M453K probably damaging Het
Kdf1 C G 4: 133,256,258 (GRCm39) A325G probably damaging Het
Klhl10 C T 11: 100,338,047 (GRCm39) A262V probably benign Het
Krt81 T A 15: 101,357,340 (GRCm39) N464I probably benign Het
Ksr1 A T 11: 78,911,251 (GRCm39) I698N probably damaging Het
Lrp2 A G 2: 69,379,322 (GRCm39) V130A possibly damaging Het
Mcm2 T C 6: 88,874,432 (GRCm39) T25A probably benign Het
Mrps18c T A 5: 100,950,960 (GRCm39) Y93* probably null Het
Mycl C T 4: 122,894,289 (GRCm39) A363V probably damaging Het
Mylk2 C A 2: 152,755,469 (GRCm39) A211E probably benign Het
Myo5a G A 9: 75,059,292 (GRCm39) D507N probably damaging Het
Myo7b A G 18: 32,131,787 (GRCm39) F470L probably damaging Het
Oas1a A T 5: 121,037,284 (GRCm39) C248S probably benign Het
Or2ag2b T C 7: 106,418,015 (GRCm39) S242P probably damaging Het
Or4c15b C T 2: 89,112,574 (GRCm39) W301* probably null Het
Or51aa2 T C 7: 103,188,031 (GRCm39) I137V probably benign Het
Or5b116 A G 19: 13,422,475 (GRCm39) Y33C probably damaging Het
Or5m9b T A 2: 85,905,882 (GRCm39) V266E probably benign Het
Or5p67 A G 7: 107,922,185 (GRCm39) S233P probably damaging Het
Or8d1 G A 9: 38,767,101 (GRCm39) V248M probably damaging Het
Otub1 C A 19: 7,177,357 (GRCm39) G67C probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Paqr8 A G 1: 21,004,920 (GRCm39) I25V probably benign Het
Pcdh1 A G 18: 38,325,252 (GRCm39) Y897H probably damaging Het
Pde4d T G 13: 109,397,343 (GRCm39) probably benign Het
Pdzd8 C A 19: 59,289,458 (GRCm39) K647N probably damaging Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Praf2 T C X: 7,596,641 (GRCm39) probably benign Het
Pramel29 A T 4: 143,939,575 (GRCm39) probably benign Het
Psg25 A T 7: 18,258,711 (GRCm39) Y322N possibly damaging Het
Rxrg A G 1: 167,463,335 (GRCm39) E402G probably damaging Het
Selenok T A 14: 29,692,022 (GRCm39) V20E probably benign Het
Sipa1 G A 19: 5,705,786 (GRCm39) T394I probably benign Het
Spag17 A T 3: 99,969,264 (GRCm39) N1247I probably damaging Het
Spata31d1c A G 13: 65,183,718 (GRCm39) D420G probably damaging Het
Syk A G 13: 52,795,962 (GRCm39) K519R probably benign Het
Syne2 A T 12: 75,985,515 (GRCm39) E1654D possibly damaging Het
Tha1 A C 11: 117,760,502 (GRCm39) S241A probably damaging Het
Thsd7a T A 6: 12,379,601 (GRCm39) E941V probably damaging Het
Tjp1 T C 7: 64,972,797 (GRCm39) T548A probably damaging Het
Tube1 C A 10: 39,020,552 (GRCm39) D210E probably benign Het
Vmn1r183 T A 7: 23,754,971 (GRCm39) I258N possibly damaging Het
Vmn1r89 A T 7: 12,954,140 (GRCm39) N292I probably damaging Het
Vmp1 C A 11: 86,554,377 (GRCm39) V79L probably benign Het
Zfp182 T A X: 20,902,605 (GRCm39) D125V possibly damaging Het
Zfp975 T G 7: 42,311,654 (GRCm39) T320P probably damaging Het
Znrf1 G A 8: 112,263,899 (GRCm39) A43T probably benign 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
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'- CTGTGTGCCATGCATCAACAAAC -3'
(R):5'- ACTTTTCCGGACCGTCACAC -3'

Sequencing Primer
(F):5'- TGCCATGCATCAACAAACGTATTTAC -3'
(R):5'- CAGGGACCTAGGGTGGTTACAC -3'
Posted On 2016-07-06