Incidental Mutation 'R7548:Atp8a1'
ID 584298
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 045619-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7548 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 67973071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 26 (R26*)
Ref Sequence ENSEMBL: ENSMUSP00000121630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000113651] [ENSMUST00000113652] [ENSMUST00000135930] [ENSMUST00000141443] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect probably benign
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 benign
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 benign
Transcript: ENSMUST00000113651
SMART Domains Protein: ENSMUSP00000109281
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Blast:CUB 46 87 4e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113652
SMART Domains Protein: ENSMUSP00000109282
Gene: ENSMUSG00000037685

DomainStartEndE-ValueType
Blast:CUB 46 87 9e-6 BLAST
Pfam:E1-E2_ATPase 104 175 6.1e-14 PFAM
Predicted Effect probably benign
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 null
Transcript: ENSMUST00000141443
AA Change: R26*
SMART Domains Protein: ENSMUSP00000121630
Gene: ENSMUSG00000037685
AA Change: R26*

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 51 106 9.6e-22 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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik G A 5: 115,016,059 (GRCm39) S146N possibly damaging Het
Acr T C 15: 89,458,596 (GRCm39) S426P possibly damaging Het
Arl6ip1 A T 7: 117,725,733 (GRCm39) I59N probably damaging Het
Atp2b4 A T 1: 133,629,379 (GRCm39) *81K probably null Het
Atp8b4 T A 2: 126,231,262 (GRCm39) Q453L probably benign Het
B4galt4 A G 16: 38,574,428 (GRCm39) E134G probably damaging Het
Bcl9 G A 3: 97,113,209 (GRCm39) T1082I probably damaging Het
Catsperg2 A G 7: 29,409,251 (GRCm39) F617L probably benign Het
Ccdc15 T C 9: 37,188,723 (GRCm39) N800S probably benign Het
Cd300ld T C 11: 114,878,248 (GRCm39) D88G probably benign Het
Ceacam2 A T 7: 25,229,958 (GRCm39) V216E probably benign Het
Cecr2 T A 6: 120,738,675 (GRCm39) M356K Het
Cenpm T C 15: 82,128,880 (GRCm39) M1V probably null Het
Ces2e A G 8: 105,658,538 (GRCm39) E401G probably benign Het
Cib3 C A 8: 72,961,041 (GRCm39) L65F probably damaging Het
Clip4 C G 17: 72,096,963 (GRCm39) T29R probably benign Het
Cnot7 A G 8: 40,953,874 (GRCm39) I131T probably damaging Het
Cntn5 A T 9: 9,673,415 (GRCm39) probably null Het
Col11a1 A C 3: 113,917,409 (GRCm39) H732P unknown Het
Coq4 A T 2: 29,685,420 (GRCm39) T145S possibly damaging Het
Cwf19l1 T C 19: 44,098,989 (GRCm39) D527G probably benign Het
Cyp3a25 T C 5: 145,923,735 (GRCm39) I303V probably damaging Het
Dab2 C T 15: 6,459,399 (GRCm39) T437I possibly damaging Het
Dlc1 A G 8: 37,051,809 (GRCm39) S190P probably benign Het
Dnah6 G A 6: 73,004,423 (GRCm39) L3847F probably damaging Het
Dnmbp T C 19: 43,877,838 (GRCm39) E411G probably benign Het
Dpp8 T C 9: 64,944,517 (GRCm39) Y95H probably damaging Het
Emb T A 13: 117,408,590 (GRCm39) D310E possibly damaging Het
Eml4 C A 17: 83,732,766 (GRCm39) Q140K probably benign Het
Epb41l3 T C 17: 69,517,271 (GRCm39) S100P probably damaging Het
Fat4 A T 3: 39,035,263 (GRCm39) T2972S probably benign Het
Fignl2 T C 15: 100,951,079 (GRCm39) E401G unknown Het
Fryl T A 5: 73,349,105 (GRCm39) D19V unknown Het
Gck C T 11: 5,852,040 (GRCm39) G16R Het
Gm3371 T C 14: 44,648,145 (GRCm39) M1V probably null Het
Hlcs T A 16: 93,933,876 (GRCm39) K661* probably null Het
Il17re C G 6: 113,443,348 (GRCm39) P363A probably damaging Het
Kif24 C T 4: 41,423,601 (GRCm39) E217K possibly damaging Het
Klhdc7b T C 15: 89,272,907 (GRCm39) I605T probably damaging Het
Krt31 T C 11: 99,940,346 (GRCm39) T170A probably damaging Het
Lgals3bp T C 11: 118,287,669 (GRCm39) D126G probably benign Het
Lig1 T A 7: 13,035,344 (GRCm39) F601Y possibly damaging Het
Lrp6 A G 6: 134,484,471 (GRCm39) I384T probably damaging Het
Mfap5 A T 6: 122,502,993 (GRCm39) T102S probably benign Het
Mfsd6 A G 1: 52,702,446 (GRCm39) F600S possibly damaging Het
Nlrp4a G A 7: 26,149,604 (GRCm39) E404K probably damaging Het
Nme3 T C 17: 25,115,522 (GRCm39) L12P probably damaging Het
Nxpe5 A T 5: 138,249,493 (GRCm39) T428S probably benign Het
Or1e26 G A 11: 73,479,802 (GRCm39) T254I possibly damaging Het
Or4c122 T C 2: 89,079,430 (GRCm39) T191A probably benign Het
Prr5 C A 15: 84,641,259 (GRCm39) P175Q possibly damaging Het
Psmc6 T C 14: 45,572,375 (GRCm39) Y110H probably benign Het
Pthlh T A 6: 147,158,653 (GRCm39) R102S possibly damaging Het
Ric8b G T 10: 84,783,736 (GRCm39) S198I probably damaging Het
Rrp7a C A 15: 83,001,871 (GRCm39) R212S possibly damaging Het
Rubcnl T C 14: 75,279,792 (GRCm39) Y392H probably benign Het
Sag G A 1: 87,772,638 (GRCm39) V369I probably benign Het
Sar1b A G 11: 51,680,094 (GRCm39) E140G probably benign Het
Sema3d T A 5: 12,627,783 (GRCm39) M658K unknown Het
Skor2 C T 18: 76,948,600 (GRCm39) S774F possibly damaging Het
Slc1a6 G T 10: 78,650,265 (GRCm39) R501L probably damaging Het
Spata31d1b A G 13: 59,864,468 (GRCm39) M539V probably benign Het
Spocd1 T C 4: 129,823,602 (GRCm39) L133P Het
Sptlc1 A T 13: 53,521,968 (GRCm39) N96K possibly damaging Het
Stox1 A T 10: 62,501,946 (GRCm39) S205T probably damaging Het
Tec T C 5: 72,917,693 (GRCm39) M509V probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Ttc34 T A 4: 154,940,816 (GRCm39) L499Q probably damaging Het
Uqcc1 A G 2: 155,751,309 (GRCm39) C120R probably damaging Het
Usp39 C T 6: 72,321,996 (GRCm39) S46N possibly damaging Het
Zbtb5 T C 4: 44,994,724 (GRCm39) E220G probably benign Het
Zfp287 A T 11: 62,604,701 (GRCm39) C735* probably null 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
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'- CTGGGAAGTCCATTTGTTTCC -3'
(R):5'- TACCATTTGTCACTAGCGGC -3'

Sequencing Primer
(F):5'- GGGAAGTCCATTTGTTTCCTTTCC -3'
(R):5'- CACTAGCGGCTGGTTATCATTAG -3'
Posted On 2019-10-17