Incidental Mutation 'R1771:Atp8a1'
ID 196570
Institutional Source Beutler Lab
Gene Symbol Atp8a1
Ensembl Gene ENSMUSG00000037685
Gene Name ATPase phospholipid transporting 8A1
Synonyms Atp3a2, B230107D19Rik
MMRRC Submission 039802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1771 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 67775483-68004777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67805074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 1014 (W1014R)
Ref Sequence ENSEMBL: ENSMUSP00000118379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037380] [ENSMUST00000072971] [ENSMUST00000135930] [ENSMUST00000200955]
AlphaFold P70704
Predicted Effect possibly damaging
Transcript: ENSMUST00000037380
AA Change: W1029R

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000042215
Gene: ENSMUSG00000037685
AA Change: W1029R

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 possibly damaging
Transcript: ENSMUST00000072971
AA Change: W1029R

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072738
Gene: ENSMUSG00000037685
AA Change: W1029R

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: W1014R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118379
Gene: ENSMUSG00000037685
AA Change: W1014R

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: ENSMUST00000145914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149501
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: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,773,061 (GRCm39) S642P probably damaging Het
Adam30 T C 3: 98,068,835 (GRCm39) S95P possibly damaging Het
Ahnak G A 19: 8,991,117 (GRCm39) V4134I probably benign Het
Ankrd13a T C 5: 114,941,649 (GRCm39) V512A probably benign Het
Asph A T 4: 9,598,773 (GRCm39) S149R probably damaging Het
Atp2b4 C A 1: 133,660,131 (GRCm39) V384L probably damaging Het
Cand1 A C 10: 119,044,211 (GRCm39) N1054K probably benign Het
Car15 A T 16: 17,654,730 (GRCm39) V96E probably damaging Het
Cd1d1 T C 3: 86,905,972 (GRCm39) E101G possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Ceacam1 T A 7: 25,171,469 (GRCm39) T332S probably benign Het
Clca3a2 A T 3: 144,787,171 (GRCm39) V500E probably benign Het
Cul9 A T 17: 46,848,738 (GRCm39) M666K probably benign Het
Dennd3 A G 15: 73,426,950 (GRCm39) T776A possibly damaging Het
Dennd5a T C 7: 109,517,893 (GRCm39) D581G probably damaging Het
Dgkh A G 14: 78,846,967 (GRCm39) V371A probably damaging Het
Dhcr24 A G 4: 106,435,450 (GRCm39) T314A probably benign Het
Diaph1 G T 18: 38,024,071 (GRCm39) P589Q unknown Het
Disp2 C T 2: 118,621,778 (GRCm39) Q837* probably null Het
Dusp3 A T 11: 101,875,561 (GRCm39) M1K probably null Het
Ecpas A G 4: 58,879,100 (GRCm39) I63T probably damaging Het
Eddm13 G T 7: 6,280,541 (GRCm39) probably null Het
Erich3 A C 3: 154,454,109 (GRCm39) D625A possibly damaging Het
Fat2 G A 11: 55,201,691 (GRCm39) S461L probably benign Het
Fmn2 A G 1: 174,436,342 (GRCm39) probably benign Het
Foxi1 A G 11: 34,157,594 (GRCm39) Y144H probably damaging Het
Ftcd G A 10: 76,423,202 (GRCm39) V458M probably damaging Het
Gm3604 C A 13: 62,517,888 (GRCm39) G157* probably null Het
Gnpda1 C T 18: 38,466,380 (GRCm39) R79Q probably benign Het
Gpr65 T A 12: 98,242,259 (GRCm39) I304K probably damaging Het
Grem1 T C 2: 113,580,021 (GRCm39) E160G probably benign Het
Gria2 T A 3: 80,599,608 (GRCm39) K759* probably null Het
Gsg1l A G 7: 125,557,745 (GRCm39) S128P probably damaging Het
Hdac1 A T 4: 129,415,221 (GRCm39) I240N probably damaging Het
Hic2 C T 16: 17,076,578 (GRCm39) T469M probably benign Het
Hoxc10 A C 15: 102,875,522 (GRCm39) D77A probably damaging Het
Itprid1 T C 6: 55,875,132 (GRCm39) S361P probably benign Het
Klhl14 T A 18: 21,784,677 (GRCm39) H250L probably damaging Het
Klk1b24 A G 7: 43,837,653 (GRCm39) probably null Het
Letm1 T A 5: 33,926,811 (GRCm39) H162L probably damaging Het
Loxl3 A T 6: 83,026,890 (GRCm39) Y573F probably damaging Het
Macf1 A T 4: 123,405,901 (GRCm39) I330N probably damaging Het
Mchr1 T A 15: 81,121,436 (GRCm39) I62N probably damaging Het
Mcm8 C T 2: 132,685,476 (GRCm39) Q803* probably null Het
Msh3 T G 13: 92,349,004 (GRCm39) D1075A probably benign Het
Msh6 T A 17: 88,291,950 (GRCm39) V235D probably benign Het
Mthfd2l A T 5: 91,122,254 (GRCm39) D253V probably damaging Het
Mtor T C 4: 148,555,081 (GRCm39) V901A possibly damaging Het
Muc20 A T 16: 32,614,222 (GRCm39) I385N probably damaging Het
Myo6 G T 9: 80,193,082 (GRCm39) C829F probably damaging Het
Nbea T C 3: 55,841,940 (GRCm39) I1914V probably benign Het
Ncor1 T C 11: 62,217,938 (GRCm39) E1462G probably damaging Het
Necab1 A G 4: 15,111,267 (GRCm39) Y54H probably damaging Het
Nlrp4b A G 7: 10,452,520 (GRCm39) K15R probably damaging Het
Ntrk1 A G 3: 87,696,937 (GRCm39) S139P probably benign Het
Oas1d T C 5: 121,053,900 (GRCm39) F120S probably damaging Het
Ofd1 A G X: 165,189,002 (GRCm39) Y755H probably benign Het
Or10al2 A G 17: 37,983,554 (GRCm39) I213M probably damaging Het
Or13a25 A G 7: 140,248,048 (GRCm39) T276A probably benign Het
Or4f47 T G 2: 111,973,065 (GRCm39) Y258* probably null Het
Or5c1 T A 2: 37,222,430 (GRCm39) F224I probably benign Het
Or5p58 A C 7: 107,694,816 (GRCm39) probably null Het
Or9s27 A G 1: 92,516,837 (GRCm39) I262V probably benign Het
Plekha6 T C 1: 133,201,651 (GRCm39) S355P probably benign Het
Prdm14 T C 1: 13,189,082 (GRCm39) K421E probably damaging Het
Prss36 A G 7: 127,532,625 (GRCm39) L731P probably damaging Het
Rad51d A G 11: 82,774,764 (GRCm39) L97P probably damaging Het
Rbl1 C A 2: 157,005,454 (GRCm39) probably null Het
Rnh1 G T 7: 140,744,519 (GRCm39) A52D possibly damaging Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Ryr2 A C 13: 11,760,062 (GRCm39) probably null Het
Samd4 A T 14: 47,326,532 (GRCm39) N454I probably damaging Het
Sap130 T C 18: 31,769,135 (GRCm39) I32T probably benign Het
Sap30l A T 11: 57,696,925 (GRCm39) N85I probably damaging Het
Sbf2 G A 7: 110,060,353 (GRCm39) Q204* probably null Het
Slc45a3 T C 1: 131,904,694 (GRCm39) W6R possibly damaging Het
Snx16 A G 3: 10,484,221 (GRCm39) V334A probably damaging Het
Soat1 C T 1: 156,269,991 (GRCm39) V143I probably benign Het
Sp8 T A 12: 118,813,302 (GRCm39) F386I probably damaging Het
Spag6 C T 2: 18,738,928 (GRCm39) S286L probably benign Het
Srpra A T 9: 35,124,147 (GRCm39) N31I possibly damaging Het
Ssbp4 A G 8: 71,051,502 (GRCm39) probably null Het
Stxbp2 G T 8: 3,684,064 (GRCm39) A124S probably benign Het
Tacc2 A G 7: 130,343,970 (GRCm39) K700R probably damaging Het
Tatdn2 A T 6: 113,679,060 (GRCm39) probably null Het
Tecrl G A 5: 83,439,134 (GRCm39) T226I probably damaging Het
Timeless T G 10: 128,083,477 (GRCm39) V702G probably benign Het
Tjp1 A T 7: 64,962,753 (GRCm39) S1061R probably benign Het
Tmem39b A T 4: 129,587,011 (GRCm39) C67S probably damaging Het
Tstd3 T C 4: 21,759,475 (GRCm39) Y99C probably damaging Het
Ttc39c T A 18: 12,817,881 (GRCm39) probably null Het
Ttll7 C T 3: 146,600,160 (GRCm39) P23S probably benign Het
Uba5 A G 9: 103,927,107 (GRCm39) F290S probably damaging Het
Ubap2l T C 3: 89,926,538 (GRCm39) Y623C probably damaging Het
Ube3a A G 7: 58,925,714 (GRCm39) E164G probably damaging Het
Ugcg A G 4: 59,207,775 (GRCm39) N38S probably benign Het
Ugp2 G A 11: 21,279,915 (GRCm39) T283I probably damaging Het
Vmn1r55 A T 7: 5,149,919 (GRCm39) I168N probably benign Het
Wdr27 A C 17: 15,112,703 (GRCm39) S668A probably damaging Het
Wnt2 T A 6: 18,008,696 (GRCm39) N247I probably damaging Het
Zfp850 A T 7: 27,684,700 (GRCm39) C15* probably null Het
Zfp959 A G 17: 56,204,677 (GRCm39) 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
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
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'- TGACAAGATTCAGGTTCCCCACAAC -3'
(R):5'- ACTTCCAGGAAGAGAGACCCGATG -3'

Sequencing Primer
(F):5'- CCGTTCCAGTTATGTTTATGAAAGG -3'
(R):5'- TCTGACCTCTTTGAGAGAGAAC -3'
Posted On 2014-05-23