Incidental Mutation 'R9169:Atp8a1'
ID 696248
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9169 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67824944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 811 (T811A)
Ref Sequence ENSEMBL: ENSMUSP00000042215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: T811A

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: T811A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: T811A

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 benign
Transcript: ENSMUST00000135930
AA Change: T796A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: T796A

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: 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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (92/92)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A T 7: 41,261,109 (GRCm39) probably benign Het
9330182O14Rik A T 15: 40,005,632 (GRCm39) K17* probably null Het
Adamtsl3 A C 7: 82,223,188 (GRCm39) I990L probably damaging Het
Add1 T A 5: 34,788,122 (GRCm39) S724T possibly damaging Het
Afdn A G 17: 14,072,627 (GRCm39) N865S probably benign Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Ap1m2 T A 9: 21,223,523 (GRCm39) I8F probably benign Het
Axin2 A G 11: 108,822,378 (GRCm39) D310G probably damaging Het
Bin1 T G 18: 32,562,251 (GRCm39) F379L possibly damaging Het
Bin2 C A 15: 100,554,631 (GRCm39) S91I possibly damaging Het
Birc5 A G 11: 117,743,599 (GRCm39) N111S probably benign Het
Blk T A 14: 63,620,130 (GRCm39) N137Y probably damaging Het
Cacna1d G A 14: 29,796,873 (GRCm39) A1534V probably damaging Het
Cacna2d1 T C 5: 16,451,757 (GRCm39) V207A probably damaging Het
Ccr3 A G 9: 123,828,949 (GRCm39) I95V probably benign Het
Celsr2 T C 3: 108,309,862 (GRCm39) D1579G probably benign Het
Cfap36 C A 11: 29,196,541 (GRCm39) K19N probably benign Het
Cfap52 C T 11: 67,844,860 (GRCm39) V70M possibly damaging Het
Chid1 A T 7: 141,093,722 (GRCm39) I298N probably damaging Het
Clstn1 G T 4: 149,731,322 (GRCm39) R888L possibly damaging Het
Col6a5 T A 9: 105,822,596 (GRCm39) T254S unknown Het
Coro6 C T 11: 77,359,329 (GRCm39) P301S probably damaging Het
Cstdc2 A G 2: 148,692,589 (GRCm39) probably null Het
Dchs1 T C 7: 105,422,114 (GRCm39) D102G probably damaging Het
Dnah14 T C 1: 181,433,381 (GRCm39) F353L probably benign Het
Dnajc10 A T 2: 80,163,315 (GRCm39) I344L probably benign Het
Dst T C 1: 34,303,652 (GRCm39) V4026A probably damaging Het
Exo1 A G 1: 175,715,203 (GRCm39) E114G possibly damaging Het
Fabp7 A G 10: 57,662,439 (GRCm39) I109V probably benign Het
Fars2 T C 13: 36,416,109 (GRCm39) F206S probably damaging Het
Gbp8 C T 5: 105,179,155 (GRCm39) A115T possibly damaging Het
Gm17067 T C 7: 42,357,627 (GRCm39) T292A probably benign Het
Gp2 T C 7: 119,041,929 (GRCm39) D532G probably benign Het
Gtf2i C A 5: 134,271,534 (GRCm39) A917S probably damaging Het
Guca1b A G 17: 47,702,827 (GRCm39) E169G possibly damaging Het
Hdac1 A T 4: 129,428,499 (GRCm39) Y24N probably damaging Het
Hepacam T C 9: 37,293,693 (GRCm39) F251L probably damaging Het
Hmcn1 G T 1: 150,506,092 (GRCm39) N3811K probably damaging Het
Htra4 A T 8: 25,520,133 (GRCm39) M391K probably damaging Het
Ino80d T C 1: 63,097,930 (GRCm39) T760A probably benign Het
Ints1 T G 5: 139,748,586 (GRCm39) T1074P probably benign Het
Itga6 A T 2: 71,647,015 (GRCm39) Q75L possibly damaging Het
Mapk14 A C 17: 28,960,814 (GRCm39) N272T probably benign Het
Meikin A T 11: 54,285,517 (GRCm39) T185S possibly damaging Het
Moxd2 C T 6: 40,860,490 (GRCm39) G318D possibly damaging Het
Mtmr3 G A 11: 4,437,739 (GRCm39) T905I probably benign Het
Muc16 A G 9: 18,567,824 (GRCm39) I1565T unknown Het
Myh14 A G 7: 44,271,281 (GRCm39) S1500P possibly damaging Het
Nfkb1 T C 3: 135,310,874 (GRCm39) E475G probably benign Het
Ngef C A 1: 87,473,581 (GRCm39) R67L probably benign Het
Olr1 T C 6: 129,470,528 (GRCm39) E213G probably damaging Het
Or13c3 T A 4: 52,856,052 (GRCm39) I154F probably damaging Het
Or5b124 A G 19: 13,610,903 (GRCm39) I143V probably benign Het
Or8g21 A G 9: 38,906,573 (GRCm39) S53P probably benign Het
Or9r3 A C 10: 129,947,723 (GRCm39) I312R probably benign Het
Pcdhga3 C T 18: 37,809,088 (GRCm39) L514F probably damaging Het
Pcnt A G 10: 76,221,572 (GRCm39) M2018T possibly damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pik3ca T C 3: 32,503,755 (GRCm39) probably null Het
Psapl1 A G 5: 36,362,880 (GRCm39) S491G possibly damaging Het
Psmf1 A T 2: 151,577,457 (GRCm39) D73E probably benign Het
Ptprcap A G 19: 4,206,358 (GRCm39) D147G probably benign Het
Ramacl T C 13: 67,056,063 (GRCm39) F19L probably damaging Het
Rdh8 T A 9: 20,736,935 (GRCm39) V309E possibly damaging Het
Rhobtb3 T A 13: 76,041,121 (GRCm39) T396S probably benign Het
Rpa1 A T 11: 75,200,999 (GRCm39) L475* probably null Het
Rtkn T A 6: 83,129,190 (GRCm39) S562T probably damaging Het
Saxo5 A T 8: 3,525,967 (GRCm39) Y40F possibly damaging Het
Scamp1 C T 13: 94,389,533 (GRCm39) D35N probably benign Het
Scarb1 C T 5: 125,371,146 (GRCm39) A309T probably damaging Het
Scube1 G A 15: 83,543,298 (GRCm39) T180M possibly damaging Het
Sez6 T G 11: 77,868,473 (GRCm39) F945V probably damaging Het
Sf3a1 C T 11: 4,116,681 (GRCm39) T124M probably benign Het
Smchd1 T C 17: 71,722,659 (GRCm39) K759E probably damaging Het
Sort1 C A 3: 108,247,994 (GRCm39) C446* probably null Het
Sun1 T A 5: 139,219,273 (GRCm39) S360T probably benign Het
Supv3l1 A G 10: 62,268,238 (GRCm39) F536L probably damaging Het
Taar6 A C 10: 23,861,273 (GRCm39) V91G probably damaging Het
Themis C A 10: 28,658,233 (GRCm39) T420N probably benign Het
Thoc2l T A 5: 104,666,348 (GRCm39) L290H probably damaging Het
Tmc2 T A 2: 130,083,516 (GRCm39) I491N probably damaging Het
Trmt112 T C 19: 6,888,187 (GRCm39) I113T probably damaging Het
Ttc14 C T 3: 33,857,071 (GRCm39) Q183* probably null Het
Txndc16 T A 14: 45,373,385 (GRCm39) D748V probably damaging Het
Xkr6 A G 14: 63,844,067 (GRCm39) D30G possibly damaging Het
Zc3h14 C T 12: 98,745,505 (GRCm39) S498L probably damaging Het
Zc3h7b A C 15: 81,661,184 (GRCm39) D341A probably benign Het
Zfp108 T A 7: 23,960,923 (GRCm39) C505S probably damaging Het
Zfp354c A C 11: 50,706,088 (GRCm39) L329R probably damaging Het
Zfyve16 T A 13: 92,657,871 (GRCm39) D680V probably damaging Het
Znfx1 A G 2: 166,897,185 (GRCm39) F580L 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
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
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'- TAATTCCAGGCACCGTGAAC -3'
(R):5'- GAGATGCGTTTCCTTTATCCAG -3'

Sequencing Primer
(F):5'- CCGTGAACCATCAACAAATTCTTC -3'
(R):5'- GCGTCGTTTATGGATCAAAAAGTG -3'
Posted On 2022-02-07