Incidental Mutation 'R4738:Atp8b1'
ID 359472
Institutional Source Beutler Lab
Gene Symbol Atp8b1
Ensembl Gene ENSMUSG00000039529
Gene Name ATPase, class I, type 8B, member 1
Synonyms Ic, FIC1
MMRRC Submission 041964-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4738 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 64662050-64794342 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64678251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 882 (R882G)
Ref Sequence ENSEMBL: ENSMUSP00000025482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025482]
AlphaFold Q148W0
Predicted Effect probably benign
Transcript: ENSMUST00000025482
AA Change: R882G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: R882G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.3%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,121,849 (GRCm39) I176T probably benign Het
Abtb3 C T 10: 85,463,112 (GRCm39) Q626* probably null Het
Angpt2 C T 8: 18,791,075 (GRCm39) D74N probably benign Het
Apol10a C T 15: 77,372,841 (GRCm39) T159I possibly damaging Het
Areg T C 5: 91,294,583 (GRCm39) I247T possibly damaging Het
Atg16l2 A G 7: 100,946,385 (GRCm39) L129P probably damaging Het
Atp6v1b2 T A 8: 69,556,062 (GRCm39) S246T probably benign Het
Atp9a A G 2: 168,510,101 (GRCm39) V444A probably benign Het
Babam2 T A 5: 32,058,486 (GRCm39) Y211N probably damaging Het
Ccdc127 T G 13: 74,505,187 (GRCm39) probably benign Het
Cep192 A T 18: 68,017,901 (GRCm39) K2500* probably null Het
Cnot4 T C 6: 35,028,311 (GRCm39) N435S probably benign Het
Col12a1 T C 9: 79,606,564 (GRCm39) I620V probably damaging Het
Cyth4 G A 15: 78,490,074 (GRCm39) M62I probably benign Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dchs1 C T 7: 105,407,880 (GRCm39) R1984Q probably damaging Het
Depdc5 A G 5: 33,132,666 (GRCm39) M1237V probably benign Het
Disp2 A G 2: 118,620,807 (GRCm39) Y513C probably damaging Het
Dph7 T C 2: 24,853,143 (GRCm39) S86P possibly damaging Het
Eif3b T A 5: 140,415,833 (GRCm39) M384K probably benign Het
Emc1 G T 4: 139,089,513 (GRCm39) G227V possibly damaging Het
Eri2 A G 7: 119,386,955 (GRCm39) probably null Het
Frzb A G 2: 80,254,941 (GRCm39) probably null Het
Ganc T A 2: 120,283,075 (GRCm39) V743D probably damaging Het
Gfpt1 C A 6: 87,031,729 (GRCm39) probably benign Het
Gm3086 A T 12: 70,016,155 (GRCm39) probably benign Het
Gsdmc2 A T 15: 63,698,650 (GRCm39) Y315* probably null Het
Haus6 A G 4: 86,518,986 (GRCm39) probably null Het
Hhip C T 8: 80,719,199 (GRCm39) D443N probably damaging Het
Isg15 T C 4: 156,284,319 (GRCm39) M70V probably benign Het
Kank2 T C 9: 21,685,915 (GRCm39) N653S probably damaging Het
Klhdc1 G T 12: 69,329,907 (GRCm39) R345S probably benign Het
Larp7 A G 3: 127,339,694 (GRCm39) probably null Het
Lgals12 A G 19: 7,581,464 (GRCm39) V81A probably benign Het
Lhx9 A G 1: 138,760,486 (GRCm39) L288P probably damaging Het
Mcpt9 T A 14: 56,264,456 (GRCm39) H213L probably damaging Het
Met T C 6: 17,491,540 (GRCm39) C101R probably damaging Het
Myo16 G T 8: 10,423,527 (GRCm39) G288W probably damaging Het
Neb A C 2: 52,077,494 (GRCm39) S1846A probably damaging Het
Nr3c2 T C 8: 77,635,936 (GRCm39) S346P possibly damaging Het
Obi1 C T 14: 104,747,819 (GRCm39) D43N probably damaging Het
Or10h5 A G 17: 33,434,784 (GRCm39) F178S probably benign Het
Or1e1c G T 11: 73,266,176 (GRCm39) L200F possibly damaging Het
Or51e1 T A 7: 102,359,378 (GRCm39) I304N probably damaging Het
Or5h19 T C 16: 58,856,558 (GRCm39) I181V probably benign Het
Or5p63 A T 7: 107,811,201 (GRCm39) N178K probably damaging Het
Osbpl10 A G 9: 115,045,642 (GRCm39) E426G probably damaging Het
Ovgp1 T C 3: 105,887,234 (GRCm39) V210A probably damaging Het
Pam A T 1: 97,850,857 (GRCm39) V167D probably damaging Het
Pappa2 T C 1: 158,784,582 (GRCm39) R143G probably benign Het
Pbx4 C T 8: 70,317,619 (GRCm39) T201M probably damaging Het
Pcdhb9 T C 18: 37,536,468 (GRCm39) C821R probably benign Het
Plekhg3 T C 12: 76,623,688 (GRCm39) I976T probably damaging Het
Pold1 G A 7: 44,190,753 (GRCm39) R304C probably damaging Het
Prss38 T C 11: 59,263,771 (GRCm39) T314A probably benign Het
Psph T C 5: 129,846,450 (GRCm39) probably null Het
Ptprj G A 2: 90,270,987 (GRCm39) P1247L probably damaging Het
Rab3gap1 A G 1: 127,862,173 (GRCm39) E648G probably damaging Het
Ralgds A G 2: 28,435,428 (GRCm39) E465G probably damaging Het
Rfng T C 11: 120,674,790 (GRCm39) T67A probably damaging Het
Rps6kl1 G T 12: 85,187,161 (GRCm39) F181L probably benign Het
Spata46 G A 1: 170,139,455 (GRCm39) M151I possibly damaging Het
Ssbp1 T A 6: 40,454,914 (GRCm39) N124K probably damaging Het
Sspo C T 6: 48,455,330 (GRCm39) A3064V possibly damaging Het
Tbc1d8 G A 1: 39,441,959 (GRCm39) T211I possibly damaging Het
Tdpoz4 T C 3: 93,704,396 (GRCm39) I231T probably damaging Het
Tff3 G A 17: 31,346,483 (GRCm39) P30S probably benign Het
Thg1l C T 11: 45,845,018 (GRCm39) R18Q probably damaging Het
Tlk2 T A 11: 105,147,708 (GRCm39) H369Q probably benign Het
Tnfaip8 A G 18: 50,223,569 (GRCm39) T14A probably damaging Het
Tspan17 T A 13: 54,942,877 (GRCm39) C116* probably null Het
Ttn T C 2: 76,710,890 (GRCm39) probably benign Het
Tyr T C 7: 87,141,855 (GRCm39) Y158C probably null Het
U2af1l4 G T 7: 30,262,773 (GRCm39) probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r86 T A 10: 130,282,939 (GRCm39) D559V probably damaging Het
Wfikkn2 T A 11: 94,129,902 (GRCm39) T80S probably benign Het
Zdhhc2 T A 8: 40,917,183 (GRCm39) probably null Het
Zfp521 T C 18: 13,977,111 (GRCm39) K1101E possibly damaging Het
Zfp595 A T 13: 67,465,229 (GRCm39) F345I probably benign Het
Zswim2 T A 2: 83,745,739 (GRCm39) R566S probably benign 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
R0323:Atp8b1 UTSW 18 64,701,323 (GRCm39) missense possibly damaging 0.94
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 64,701,318 (GRCm39) missense probably benign 0.11
R4560:Atp8b1 UTSW 18 64,689,950 (GRCm39) nonsense probably null
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
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 PCR Primer
(F):5'- TTCCAGAGGGTAGGTCAAGG -3'
(R):5'- CTGAAGCTGAAGTTCCCAAGG -3'

Sequencing Primer
(F):5'- GGAAAGCTGCCTTCAGTGATACC -3'
(R):5'- CTGAAGTTCCCAAGGACAGAG -3'
Posted On 2015-11-11