Incidental Mutation 'R5400:Atp8b1'
ID 429961
Institutional Source Beutler Lab
Gene Symbol Atp8b1
Ensembl Gene ENSMUSG00000039529
Gene Name ATPase, class I, type 8B, member 1
Synonyms FIC1, Ic
MMRRC Submission 042971-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5400 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 64528979-64661000 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 64545989 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025482]
AlphaFold Q148W0
Predicted Effect probably null
Transcript: ENSMUST00000025482
SMART Domains Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 65 144 5.3e-29 PFAM
Pfam:E1-E2_ATPase 146 413 6e-11 PFAM
Pfam:HAD 451 902 2.4e-21 PFAM
Pfam:Cation_ATPase 532 632 1e-12 PFAM
Pfam:PhoLip_ATPase_C 919 1173 7.3e-82 PFAM
low complexity region 1193 1207 N/A INTRINSIC
low complexity region 1221 1232 N/A INTRINSIC
Meta Mutation Damage Score 0.9493 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (64/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice display abnormal bile salt homeostasis, normal bile secretion, and an impaired ability to handle increased bile salt loading resulting in liver damage and weight loss on a bile salt supplemented diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A T 5: 9,479,247 (GRCm38) N1027Y probably damaging Het
Accsl T C 2: 93,859,422 (GRCm38) D380G probably damaging Het
Afm T C 5: 90,551,398 (GRCm38) L567P possibly damaging Het
AI481877 A G 4: 59,082,432 (GRCm38) S399P possibly damaging Het
Anks1b A T 10: 90,512,824 (GRCm38) I785L probably damaging Het
Arpc5l G A 2: 39,013,735 (GRCm38) G79S probably benign Het
Arvcf G T 16: 18,399,070 (GRCm38) R440L probably benign Het
Atm T C 9: 53,503,018 (GRCm38) D924G probably damaging Het
Cd19 C T 7: 126,414,452 (GRCm38) G55D probably benign Het
Cd34 A G 1: 194,938,958 (GRCm38) probably benign Het
Cd69 T A 6: 129,269,991 (GRCm38) M88L probably benign Het
Ces2h A G 8: 105,018,425 (GRCm38) E397G probably benign Het
Ddx60 T C 8: 62,010,002 (GRCm38) F1306L possibly damaging Het
Dennd5b T C 6: 149,000,016 (GRCm38) E1124G probably damaging Het
Dio1 A T 4: 107,306,988 (GRCm38) M44K probably damaging Het
En1 A G 1: 120,603,595 (GRCm38) D188G probably damaging Het
Epha10 C T 4: 124,914,121 (GRCm38) probably benign Het
Fam120b A T 17: 15,403,126 (GRCm38) L455F possibly damaging Het
Flt4 AC ACC 11: 49,651,034 (GRCm38) probably null Het
Gm38394 G A 1: 133,658,141 (GRCm38) T486I probably damaging Het
Incenp A G 19: 9,877,675 (GRCm38) probably null Het
Kansl3 A G 1: 36,358,149 (GRCm38) V86A possibly damaging Het
Klhl7 C G 5: 24,126,920 (GRCm38) F73L probably damaging Het
Med28 T A 5: 45,525,199 (GRCm38) V69D probably damaging Het
Mknk1 C A 4: 115,864,552 (GRCm38) L98M probably damaging Het
Mknk1 T A 4: 115,864,553 (GRCm38) L98Q probably damaging Het
Myo3b T A 2: 70,105,380 (GRCm38) C97S probably damaging Het
Neto1 A G 18: 86,395,908 (GRCm38) H9R possibly damaging Het
Olfr1230 T C 2: 89,296,913 (GRCm38) D119G probably damaging Het
Olfr317 T C 11: 58,732,320 (GRCm38) T282A possibly damaging Het
Olfr354 A T 2: 36,907,821 (GRCm38) I292F probably damaging Het
Olfr78 G A 7: 102,742,430 (GRCm38) T191I probably benign Het
Omd A T 13: 49,592,227 (GRCm38) E371V probably benign Het
Osbpl9 G T 4: 109,062,300 (GRCm38) Y733* probably null Het
Pcdh12 A T 18: 38,268,898 (GRCm38) S91R probably damaging Het
Pxk C A 14: 8,136,911 (GRCm38) P144Q probably benign Het
Qser1 A G 2: 104,789,874 (GRCm38) S198P probably damaging Het
Recql T G 6: 142,362,347 (GRCm38) probably benign Het
Reln T C 5: 21,979,714 (GRCm38) D1601G probably damaging Het
Scn10a T C 9: 119,609,034 (GRCm38) D1922G probably damaging Het
Scn11a T A 9: 119,769,908 (GRCm38) R1185S probably damaging Het
Sh3bp5 C A 14: 31,377,495 (GRCm38) R265L probably benign Het
Slc13a4 A T 6: 35,301,842 (GRCm38) C37* probably null Het
Slc22a30 G A 19: 8,344,393 (GRCm38) Q436* probably null Het
Slc9a9 T A 9: 94,712,901 (GRCm38) F155I probably damaging Het
Spef2 T A 15: 9,614,281 (GRCm38) K1193M probably damaging Het
Swt1 T C 1: 151,412,834 (GRCm38) T80A probably benign Het
Tmc1 A G 19: 20,804,602 (GRCm38) I584T probably damaging Het
Tsc22d1 C A 14: 76,417,054 (GRCm38) F324L probably benign Het
Usp19 T C 9: 108,500,193 (GRCm38) V1236A probably damaging Het
Vmn2r63 T C 7: 42,928,211 (GRCm38) N301S probably benign Het
Wrn C T 8: 33,294,917 (GRCm38) V476I probably benign Het
Zbtb25 C A 12: 76,349,702 (GRCm38) E249* probably null Het
Zfp54 C A 17: 21,433,700 (GRCm38) T152K probably benign Het
Other mutations in Atp8b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Atp8b1 APN 18 64,564,430 (GRCm38) missense probably benign 0.23
IGL00907:Atp8b1 APN 18 64,561,705 (GRCm38) missense possibly damaging 0.95
IGL00962:Atp8b1 APN 18 64,531,444 (GRCm38) missense probably damaging 1.00
IGL01433:Atp8b1 APN 18 64,573,519 (GRCm38) missense probably benign 0.00
IGL01525:Atp8b1 APN 18 64,539,252 (GRCm38) nonsense probably null
IGL01645:Atp8b1 APN 18 64,546,113 (GRCm38) missense probably benign 0.06
IGL02008:Atp8b1 APN 18 64,538,695 (GRCm38) splice site probably benign
IGL02227:Atp8b1 APN 18 64,562,190 (GRCm38) missense probably benign
IGL02231:Atp8b1 APN 18 64,550,384 (GRCm38) missense possibly damaging 0.94
IGL02326:Atp8b1 APN 18 64,538,583 (GRCm38) missense probably damaging 0.99
IGL02562:Atp8b1 APN 18 64,581,986 (GRCm38) missense probably benign
IGL02929:Atp8b1 APN 18 64,561,662 (GRCm38) missense possibly damaging 0.63
enchilada UTSW 18 64,545,989 (GRCm38) critical splice donor site probably null
PIT4520001:Atp8b1 UTSW 18 64,568,180 (GRCm38) missense probably benign 0.34
PIT4696001:Atp8b1 UTSW 18 64,539,270 (GRCm38) missense possibly damaging 0.93
R0144:Atp8b1 UTSW 18 64,571,374 (GRCm38) splice site probably benign
R0193:Atp8b1 UTSW 18 64,561,636 (GRCm38) missense probably benign
R0277:Atp8b1 UTSW 18 64,568,252 (GRCm38) missense possibly damaging 0.94
R0308:Atp8b1 UTSW 18 64,545,244 (GRCm38) nonsense probably null
R0323:Atp8b1 UTSW 18 64,568,252 (GRCm38) missense possibly damaging 0.94
R0403:Atp8b1 UTSW 18 64,540,310 (GRCm38) missense probably damaging 1.00
R0601:Atp8b1 UTSW 18 64,571,653 (GRCm38) splice site probably null
R0614:Atp8b1 UTSW 18 64,533,587 (GRCm38) splice site probably benign
R0883:Atp8b1 UTSW 18 64,564,541 (GRCm38) missense probably benign 0.44
R1077:Atp8b1 UTSW 18 64,573,262 (GRCm38) nonsense probably null
R1292:Atp8b1 UTSW 18 64,571,021 (GRCm38) missense probably damaging 0.99
R1494:Atp8b1 UTSW 18 64,564,526 (GRCm38) missense probably damaging 1.00
R1522:Atp8b1 UTSW 18 64,550,432 (GRCm38) missense probably benign 0.00
R1534:Atp8b1 UTSW 18 64,545,264 (GRCm38) missense probably damaging 1.00
R1535:Atp8b1 UTSW 18 64,545,264 (GRCm38) missense probably damaging 1.00
R1536:Atp8b1 UTSW 18 64,545,264 (GRCm38) missense probably damaging 1.00
R1537:Atp8b1 UTSW 18 64,545,264 (GRCm38) missense probably damaging 1.00
R1650:Atp8b1 UTSW 18 64,571,549 (GRCm38) splice site probably benign
R1772:Atp8b1 UTSW 18 64,573,492 (GRCm38) missense possibly damaging 0.88
R2016:Atp8b1 UTSW 18 64,540,334 (GRCm38) missense probably damaging 1.00
R2017:Atp8b1 UTSW 18 64,540,334 (GRCm38) missense probably damaging 1.00
R2043:Atp8b1 UTSW 18 64,605,200 (GRCm38) missense possibly damaging 0.94
R2223:Atp8b1 UTSW 18 64,564,357 (GRCm38) missense possibly damaging 0.88
R3052:Atp8b1 UTSW 18 64,553,108 (GRCm38) missense probably benign 0.04
R3694:Atp8b1 UTSW 18 64,533,721 (GRCm38) missense possibly damaging 0.81
R3738:Atp8b1 UTSW 18 64,533,729 (GRCm38) splice site probably benign
R4211:Atp8b1 UTSW 18 64,553,047 (GRCm38) missense probably damaging 1.00
R4362:Atp8b1 UTSW 18 64,564,537 (GRCm38) missense probably damaging 1.00
R4560:Atp8b1 UTSW 18 64,568,247 (GRCm38) missense probably benign 0.11
R4560:Atp8b1 UTSW 18 64,556,879 (GRCm38) nonsense probably null
R4562:Atp8b1 UTSW 18 64,556,891 (GRCm38) missense probably damaging 1.00
R4615:Atp8b1 UTSW 18 64,553,099 (GRCm38) missense probably null
R4676:Atp8b1 UTSW 18 64,538,678 (GRCm38) missense probably benign 0.01
R4738:Atp8b1 UTSW 18 64,545,180 (GRCm38) missense probably benign 0.31
R4774:Atp8b1 UTSW 18 64,533,659 (GRCm38) missense possibly damaging 0.49
R4808:Atp8b1 UTSW 18 64,561,711 (GRCm38) missense probably benign 0.01
R4868:Atp8b1 UTSW 18 64,551,866 (GRCm38) missense probably damaging 1.00
R5162:Atp8b1 UTSW 18 64,561,662 (GRCm38) missense possibly damaging 0.63
R5289:Atp8b1 UTSW 18 64,546,087 (GRCm38) missense possibly damaging 0.51
R5328:Atp8b1 UTSW 18 64,531,391 (GRCm38) missense probably benign 0.00
R5587:Atp8b1 UTSW 18 64,539,210 (GRCm38) missense probably damaging 1.00
R5623:Atp8b1 UTSW 18 64,546,094 (GRCm38) missense possibly damaging 0.85
R5651:Atp8b1 UTSW 18 64,531,382 (GRCm38) missense probably benign 0.31
R5652:Atp8b1 UTSW 18 64,531,382 (GRCm38) missense probably benign 0.31
R5653:Atp8b1 UTSW 18 64,545,197 (GRCm38) missense probably damaging 1.00
R5667:Atp8b1 UTSW 18 64,581,923 (GRCm38) missense probably damaging 1.00
R5689:Atp8b1 UTSW 18 64,564,537 (GRCm38) missense probably damaging 1.00
R6008:Atp8b1 UTSW 18 64,577,616 (GRCm38) missense probably damaging 1.00
R6315:Atp8b1 UTSW 18 64,531,479 (GRCm38) missense probably damaging 0.97
R6759:Atp8b1 UTSW 18 64,546,090 (GRCm38) missense probably benign 0.00
R6850:Atp8b1 UTSW 18 64,556,852 (GRCm38) missense possibly damaging 0.94
R7255:Atp8b1 UTSW 18 64,556,868 (GRCm38) missense probably damaging 1.00
R7606:Atp8b1 UTSW 18 64,555,115 (GRCm38) missense probably damaging 1.00
R7635:Atp8b1 UTSW 18 64,573,305 (GRCm38) missense possibly damaging 0.59
R7639:Atp8b1 UTSW 18 64,564,543 (GRCm38) missense possibly damaging 0.91
R7698:Atp8b1 UTSW 18 64,571,022 (GRCm38) missense probably benign 0.03
R7727:Atp8b1 UTSW 18 64,545,275 (GRCm38) missense probably damaging 1.00
R7779:Atp8b1 UTSW 18 64,541,382 (GRCm38) missense probably damaging 1.00
R7785:Atp8b1 UTSW 18 64,556,850 (GRCm38) missense probably damaging 1.00
R7874:Atp8b1 UTSW 18 64,571,024 (GRCm38) missense probably benign 0.30
R7990:Atp8b1 UTSW 18 64,538,677 (GRCm38) missense possibly damaging 0.91
R8020:Atp8b1 UTSW 18 64,546,013 (GRCm38) missense probably damaging 1.00
R8161:Atp8b1 UTSW 18 64,556,987 (GRCm38) missense probably damaging 1.00
R9007:Atp8b1 UTSW 18 64,551,860 (GRCm38) missense probably benign 0.40
R9064:Atp8b1 UTSW 18 64,564,420 (GRCm38) missense probably benign 0.12
R9266:Atp8b1 UTSW 18 64,577,457 (GRCm38) missense possibly damaging 0.70
R9266:Atp8b1 UTSW 18 64,571,037 (GRCm38) missense probably benign 0.08
R9326:Atp8b1 UTSW 18 64,573,273 (GRCm38) missense probably damaging 1.00
X0025:Atp8b1 UTSW 18 64,571,405 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGACAGGCAATTAATATGCAAAGCC -3'
(R):5'- GTGTATAAGATCCAAATGCTAGGAC -3'

Sequencing Primer
(F):5'- GAAGGTCCGGAGTTCAAATCCC -3'
(R):5'- CCTGGCCCTAGTCTTTATA -3'
Posted On 2016-09-06