Incidental Mutation 'R0323:Atp8b1'
ID 65052
Institutional Source Beutler Lab
Gene Symbol Atp8b1
Ensembl Gene ENSMUSG00000039529
Gene Name ATPase, class I, type 8B, member 1
Synonyms Ic, FIC1
MMRRC Submission 038533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0323 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 64662050-64794342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64701323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 345 (F345S)
Ref Sequence ENSEMBL: ENSMUSP00000025482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025482]
AlphaFold Q148W0
Predicted Effect possibly damaging
Transcript: ENSMUST00000025482
AA Change: F345S

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: F345S

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 0.7103 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 94.2%
  • 20x: 86.1%
Validation Efficiency
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,446,674 (GRCm39) T816S possibly damaging Het
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
4931429P17Rik A C 13: 48,114,493 (GRCm39) noncoding transcript Het
Abca13 A C 11: 9,244,701 (GRCm39) D2188A probably benign Het
Accsl T A 2: 93,691,425 (GRCm39) Q351L probably benign Het
Acot6 A C 12: 84,155,953 (GRCm39) E300D probably benign Het
Adgre1 T A 17: 57,751,060 (GRCm39) I578N probably benign Het
Agbl4 T C 4: 111,474,419 (GRCm39) S403P probably damaging Het
Agps T A 2: 75,724,505 (GRCm39) Y506* probably null Het
Appl1 A T 14: 26,664,695 (GRCm39) V446D possibly damaging Het
Arcn1 A T 9: 44,670,356 (GRCm39) I90N probably damaging Het
Aspscr1 G A 11: 120,569,246 (GRCm39) V15I probably damaging Het
Asxl2 A G 12: 3,492,487 (GRCm39) Y24C probably damaging Het
Barx1 A G 13: 48,819,430 (GRCm39) T243A probably benign Het
Bltp1 T A 3: 36,997,331 (GRCm39) C1129* probably null Het
Bmp2k A G 5: 97,235,682 (GRCm39) probably benign Het
Cacul1 A G 19: 60,531,498 (GRCm39) I257T probably benign Het
Chml A T 1: 175,514,650 (GRCm39) F424I probably benign Het
Clcn1 A T 6: 42,287,074 (GRCm39) E710D probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cylc2 T A 4: 51,228,477 (GRCm39) S183T unknown Het
Dhtkd1 T A 2: 5,919,699 (GRCm39) M561L probably benign Het
Dnajc13 A G 9: 104,034,091 (GRCm39) S2188P probably damaging Het
Dyrk1b C A 7: 27,884,781 (GRCm39) Q399K probably benign Het
Erc1 T C 6: 119,597,289 (GRCm39) K1003E probably damaging Het
Ezr G A 17: 7,022,164 (GRCm39) Q105* probably null Het
Fam83d T A 2: 158,627,467 (GRCm39) D385E probably benign Het
Fbn2 A G 18: 58,178,389 (GRCm39) C1950R probably damaging Het
Fbxo32 A T 15: 58,047,605 (GRCm39) I236N probably damaging Het
Fcgr1 T C 3: 96,193,145 (GRCm39) E284G possibly damaging Het
Foxe3 T C 4: 114,782,805 (GRCm39) N136D probably damaging Het
Fscn2 A T 11: 120,258,837 (GRCm39) I461F probably damaging Het
Fsip2 T C 2: 82,816,240 (GRCm39) I3991T probably benign Het
Galnt15 A T 14: 31,770,042 (GRCm39) H249L probably damaging Het
Gm10803 T A 2: 93,394,415 (GRCm39) Y62* probably null Het
Gm20730 G A 6: 43,058,449 (GRCm39) probably null Het
Gm4841 A G 18: 60,403,718 (GRCm39) L125S possibly damaging Het
Gmpr2 A G 14: 55,910,203 (GRCm39) D11G probably damaging Het
Gucy1b1 T A 3: 81,945,463 (GRCm39) probably null Het
Hhla1 C A 15: 65,820,352 (GRCm39) V133F probably benign Het
Hscb T C 5: 110,982,556 (GRCm39) E177G possibly damaging Het
Hyal4 A T 6: 24,756,193 (GRCm39) N137I probably benign Het
Lcp2 A G 11: 34,004,322 (GRCm39) D53G probably damaging Het
Ldb3 G A 14: 34,266,002 (GRCm39) T531I probably damaging Het
Llgl2 A G 11: 115,741,546 (GRCm39) K559E probably damaging Het
Loxhd1 A G 18: 77,456,833 (GRCm39) I499V probably benign Het
Lrp2 T C 2: 69,299,983 (GRCm39) Y3023C probably damaging Het
Lrrc59 A C 11: 94,534,248 (GRCm39) T269P probably damaging Het
Lrriq1 A T 10: 103,057,150 (GRCm39) C217S possibly damaging Het
Mmrn2 A T 14: 34,119,991 (GRCm39) Q287L probably damaging Het
Mplkip A G 13: 17,871,565 (GRCm39) I159V possibly damaging Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Nrxn1 A C 17: 91,008,170 (GRCm39) probably null Het
Or10ag60 G A 2: 87,437,841 (GRCm39) M36I probably benign Het
Or1e17 A T 11: 73,831,773 (GRCm39) I234F probably benign Het
Or6c70 T A 10: 129,709,936 (GRCm39) Q230L probably damaging Het
Or6d15 A T 6: 116,559,562 (GRCm39) V115E probably damaging Het
Or6n2 A G 1: 173,896,893 (GRCm39) T10A probably benign Het
Orc4 A T 2: 48,827,479 (GRCm39) V38E possibly damaging Het
Palm3 T A 8: 84,755,349 (GRCm39) V287D probably damaging Het
Pde11a C T 2: 75,877,118 (GRCm39) probably null Het
Pdss2 T A 10: 43,248,172 (GRCm39) H225Q probably benign Het
Pkhd1 A T 1: 20,345,762 (GRCm39) D2755E probably benign Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Polrmt T C 10: 79,577,832 (GRCm39) T287A probably benign Het
Ppfia2 A G 10: 106,732,281 (GRCm39) I943V possibly damaging Het
Pth2r A C 1: 65,427,775 (GRCm39) I483L probably benign Het
Qrsl1 A G 10: 43,772,003 (GRCm39) probably null Het
Ralgapa1 A T 12: 55,724,023 (GRCm39) I1548N probably damaging Het
Scn9a T C 2: 66,398,475 (GRCm39) E45G probably damaging Het
Sf3b1 T C 1: 55,058,416 (GRCm39) I58V probably damaging Het
Sh3d19 T A 3: 86,033,978 (GRCm39) M777K probably benign Het
Shc1 T C 3: 89,331,020 (GRCm39) L106P probably damaging Het
Skint5 T C 4: 113,794,818 (GRCm39) H255R probably benign Het
Slc28a3 C A 13: 58,711,866 (GRCm39) G487* probably null Het
Slc49a4 ACC AC 16: 35,539,730 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,777 (GRCm39) R188S probably damaging Het
Slitrk5 A G 14: 111,919,055 (GRCm39) D893G probably damaging Het
Spta1 A G 1: 174,046,017 (GRCm39) T1594A probably damaging Het
Srarp G A 4: 141,160,690 (GRCm39) Q48* probably null Het
Srf T C 17: 46,860,415 (GRCm39) T456A possibly damaging Het
Stx2 C T 5: 129,065,967 (GRCm39) V230I probably benign Het
Tenm4 C A 7: 96,344,157 (GRCm39) P250Q possibly damaging Het
Tnrc6c A G 11: 117,630,707 (GRCm39) K1023E probably damaging Het
Trpc6 A T 9: 8,610,276 (GRCm39) H248L probably damaging Het
Trpc6 A G 9: 8,643,537 (GRCm39) K441E probably damaging Het
Uty T A Y: 1,169,979 (GRCm39) I326F probably damaging Het
Vmn1r63 A G 7: 5,806,335 (GRCm39) V99A probably benign Het
Wnt11 A G 7: 98,496,590 (GRCm39) K177E probably damaging Het
Wwc1 T A 11: 35,743,175 (GRCm39) E882V probably damaging Het
Zfhx2 C A 14: 55,303,436 (GRCm39) S1516I possibly damaging Het
Zmpste24 A G 4: 120,940,050 (GRCm39) Y199H probably damaging Het
Other mutations in Atp8b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Atp8b1 APN 18 64,697,501 (GRCm39) missense probably benign 0.23
IGL00907:Atp8b1 APN 18 64,694,776 (GRCm39) missense possibly damaging 0.95
IGL00962:Atp8b1 APN 18 64,664,515 (GRCm39) missense probably damaging 1.00
IGL01433:Atp8b1 APN 18 64,706,590 (GRCm39) missense probably benign 0.00
IGL01525:Atp8b1 APN 18 64,672,323 (GRCm39) nonsense probably null
IGL01645:Atp8b1 APN 18 64,679,184 (GRCm39) missense probably benign 0.06
IGL02008:Atp8b1 APN 18 64,671,766 (GRCm39) splice site probably benign
IGL02227:Atp8b1 APN 18 64,695,261 (GRCm39) missense probably benign
IGL02231:Atp8b1 APN 18 64,683,455 (GRCm39) missense possibly damaging 0.94
IGL02326:Atp8b1 APN 18 64,671,654 (GRCm39) missense probably damaging 0.99
IGL02562:Atp8b1 APN 18 64,715,057 (GRCm39) missense probably benign
IGL02929:Atp8b1 APN 18 64,694,733 (GRCm39) missense possibly damaging 0.63
enchilada UTSW 18 64,679,060 (GRCm39) critical splice donor site probably null
PIT4520001:Atp8b1 UTSW 18 64,701,251 (GRCm39) missense probably benign 0.34
PIT4696001:Atp8b1 UTSW 18 64,672,341 (GRCm39) missense possibly damaging 0.93
R0144:Atp8b1 UTSW 18 64,704,445 (GRCm39) splice site probably benign
R0193:Atp8b1 UTSW 18 64,694,707 (GRCm39) missense probably benign
R0277:Atp8b1 UTSW 18 64,701,323 (GRCm39) missense possibly damaging 0.94
R0308:Atp8b1 UTSW 18 64,678,315 (GRCm39) nonsense probably null
R0403:Atp8b1 UTSW 18 64,673,381 (GRCm39) missense probably damaging 1.00
R0601:Atp8b1 UTSW 18 64,704,724 (GRCm39) splice site probably null
R0614:Atp8b1 UTSW 18 64,666,658 (GRCm39) splice site probably benign
R0883:Atp8b1 UTSW 18 64,697,612 (GRCm39) missense probably benign 0.44
R1077:Atp8b1 UTSW 18 64,706,333 (GRCm39) nonsense probably null
R1292:Atp8b1 UTSW 18 64,704,092 (GRCm39) missense probably damaging 0.99
R1494:Atp8b1 UTSW 18 64,697,597 (GRCm39) missense probably damaging 1.00
R1522:Atp8b1 UTSW 18 64,683,503 (GRCm39) missense probably benign 0.00
R1534:Atp8b1 UTSW 18 64,678,335 (GRCm39) missense probably damaging 1.00
R1535:Atp8b1 UTSW 18 64,678,335 (GRCm39) missense probably damaging 1.00
R1536:Atp8b1 UTSW 18 64,678,335 (GRCm39) missense probably damaging 1.00
R1537:Atp8b1 UTSW 18 64,678,335 (GRCm39) missense probably damaging 1.00
R1650:Atp8b1 UTSW 18 64,704,620 (GRCm39) splice site probably benign
R1772:Atp8b1 UTSW 18 64,706,563 (GRCm39) missense possibly damaging 0.88
R2016:Atp8b1 UTSW 18 64,673,405 (GRCm39) missense probably damaging 1.00
R2017:Atp8b1 UTSW 18 64,673,405 (GRCm39) missense probably damaging 1.00
R2043:Atp8b1 UTSW 18 64,738,271 (GRCm39) missense possibly damaging 0.94
R2223:Atp8b1 UTSW 18 64,697,428 (GRCm39) missense possibly damaging 0.88
R3052:Atp8b1 UTSW 18 64,686,179 (GRCm39) missense probably benign 0.04
R3694:Atp8b1 UTSW 18 64,666,792 (GRCm39) missense possibly damaging 0.81
R3738:Atp8b1 UTSW 18 64,666,800 (GRCm39) splice site probably benign
R4211:Atp8b1 UTSW 18 64,686,118 (GRCm39) missense probably damaging 1.00
R4362:Atp8b1 UTSW 18 64,697,608 (GRCm39) missense probably damaging 1.00
R4560:Atp8b1 UTSW 18 64,689,950 (GRCm39) nonsense probably null
R4560:Atp8b1 UTSW 18 64,701,318 (GRCm39) missense probably benign 0.11
R4562:Atp8b1 UTSW 18 64,689,962 (GRCm39) missense probably damaging 1.00
R4615:Atp8b1 UTSW 18 64,686,170 (GRCm39) missense probably null
R4676:Atp8b1 UTSW 18 64,671,749 (GRCm39) missense probably benign 0.01
R4738:Atp8b1 UTSW 18 64,678,251 (GRCm39) missense probably benign 0.31
R4774:Atp8b1 UTSW 18 64,666,730 (GRCm39) missense possibly damaging 0.49
R4808:Atp8b1 UTSW 18 64,694,782 (GRCm39) missense probably benign 0.01
R4868:Atp8b1 UTSW 18 64,684,937 (GRCm39) missense probably damaging 1.00
R5162:Atp8b1 UTSW 18 64,694,733 (GRCm39) missense possibly damaging 0.63
R5289:Atp8b1 UTSW 18 64,679,158 (GRCm39) missense possibly damaging 0.51
R5328:Atp8b1 UTSW 18 64,664,462 (GRCm39) missense probably benign 0.00
R5400:Atp8b1 UTSW 18 64,679,060 (GRCm39) critical splice donor site probably null
R5587:Atp8b1 UTSW 18 64,672,281 (GRCm39) missense probably damaging 1.00
R5623:Atp8b1 UTSW 18 64,679,165 (GRCm39) missense possibly damaging 0.85
R5651:Atp8b1 UTSW 18 64,664,453 (GRCm39) missense probably benign 0.31
R5652:Atp8b1 UTSW 18 64,664,453 (GRCm39) missense probably benign 0.31
R5653:Atp8b1 UTSW 18 64,678,268 (GRCm39) missense probably damaging 1.00
R5667:Atp8b1 UTSW 18 64,714,994 (GRCm39) missense probably damaging 1.00
R5689:Atp8b1 UTSW 18 64,697,608 (GRCm39) missense probably damaging 1.00
R6008:Atp8b1 UTSW 18 64,710,687 (GRCm39) missense probably damaging 1.00
R6315:Atp8b1 UTSW 18 64,664,550 (GRCm39) missense probably damaging 0.97
R6759:Atp8b1 UTSW 18 64,679,161 (GRCm39) missense probably benign 0.00
R6850:Atp8b1 UTSW 18 64,689,923 (GRCm39) missense possibly damaging 0.94
R7255:Atp8b1 UTSW 18 64,689,939 (GRCm39) missense probably damaging 1.00
R7606:Atp8b1 UTSW 18 64,688,186 (GRCm39) missense probably damaging 1.00
R7635:Atp8b1 UTSW 18 64,706,376 (GRCm39) missense possibly damaging 0.59
R7639:Atp8b1 UTSW 18 64,697,614 (GRCm39) missense possibly damaging 0.91
R7698:Atp8b1 UTSW 18 64,704,093 (GRCm39) missense probably benign 0.03
R7727:Atp8b1 UTSW 18 64,678,346 (GRCm39) missense probably damaging 1.00
R7779:Atp8b1 UTSW 18 64,674,453 (GRCm39) missense probably damaging 1.00
R7785:Atp8b1 UTSW 18 64,689,921 (GRCm39) missense probably damaging 1.00
R7874:Atp8b1 UTSW 18 64,704,095 (GRCm39) missense probably benign 0.30
R7990:Atp8b1 UTSW 18 64,671,748 (GRCm39) missense possibly damaging 0.91
R8020:Atp8b1 UTSW 18 64,679,084 (GRCm39) missense probably damaging 1.00
R8161:Atp8b1 UTSW 18 64,690,058 (GRCm39) missense probably damaging 1.00
R9007:Atp8b1 UTSW 18 64,684,931 (GRCm39) missense probably benign 0.40
R9064:Atp8b1 UTSW 18 64,697,491 (GRCm39) missense probably benign 0.12
R9266:Atp8b1 UTSW 18 64,710,528 (GRCm39) missense possibly damaging 0.70
R9266:Atp8b1 UTSW 18 64,704,108 (GRCm39) missense probably benign 0.08
R9326:Atp8b1 UTSW 18 64,706,344 (GRCm39) missense probably damaging 1.00
X0025:Atp8b1 UTSW 18 64,704,476 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2013-08-08