Incidental Mutation 'R1650:Atp8b1'
ID 174210
Institutional Source Beutler Lab
Gene Symbol Atp8b1
Ensembl Gene ENSMUSG00000039529
Gene Name ATPase, class I, type 8B, member 1
Synonyms Ic, FIC1
MMRRC Submission 039686-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1650 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 64662050-64794342 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 64704620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025482]
AlphaFold Q148W0
Predicted Effect probably benign
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
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 93.0%
  • 20x: 83.4%
Validation Efficiency 99% (86/87)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T G 2: 103,532,747 (GRCm39) V515G probably damaging Het
Ark2c A C 18: 77,550,113 (GRCm39) probably null Het
Arl5a A T 2: 52,302,117 (GRCm39) I99N probably damaging Het
Bag4 T A 8: 26,267,452 (GRCm39) Q126L probably damaging Het
Ccser1 A G 6: 61,615,474 (GRCm39) T659A probably benign Het
Cenpn A G 8: 117,661,498 (GRCm39) D199G probably damaging Het
Cfhr3 A G 1: 139,521,564 (GRCm39) noncoding transcript Het
Clca3a2 T A 3: 144,797,973 (GRCm39) H164L probably damaging Het
Col5a1 C A 2: 27,812,171 (GRCm39) S84R unknown Het
Ctsc T A 7: 87,930,634 (GRCm39) L71* probably null Het
Cyp2c70 A G 19: 40,153,921 (GRCm39) Y223H probably benign Het
Dbt A G 3: 116,328,381 (GRCm39) probably null Het
Dlg2 T C 7: 92,080,259 (GRCm39) V614A probably damaging Het
Dll4 T C 2: 119,161,611 (GRCm39) S398P probably damaging Het
Dyrk4 T C 6: 126,876,792 (GRCm39) K62E probably benign Het
Fgf22 A T 10: 79,591,023 (GRCm39) Y24F probably damaging Het
Ggt5 A G 10: 75,440,595 (GRCm39) R239G probably benign Het
Gm11360 C T 13: 28,140,379 (GRCm39) A81V unknown Het
Htr5b T A 1: 121,455,891 (GRCm39) T10S probably benign Het
Igsf10 T C 3: 59,233,583 (GRCm39) R1717G probably damaging Het
Itsn2 T A 12: 4,687,767 (GRCm39) V556D probably damaging Het
Kdm3b T C 18: 34,942,168 (GRCm39) V553A possibly damaging Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lca5l T C 16: 95,980,140 (GRCm39) probably null Het
Lmbrd1 T C 1: 24,750,639 (GRCm39) W171R probably damaging Het
Lrp6 T C 6: 134,445,732 (GRCm39) Y1027C probably benign Het
Macf1 A T 4: 123,350,393 (GRCm39) Y1702* probably null Het
Mon2 T C 10: 122,831,682 (GRCm39) I1675V probably benign Het
Mtcl1 T A 17: 66,692,871 (GRCm39) K486M probably damaging Het
Nek1 A T 8: 61,489,110 (GRCm39) H338L probably benign Het
Ola1 A T 2: 72,987,238 (GRCm39) D131E possibly damaging Het
Olr1 T A 6: 129,484,052 (GRCm39) M7L probably benign Het
Or1f12 T C 13: 21,721,249 (GRCm39) N294D probably damaging Het
Or4k36 C T 2: 111,146,640 (GRCm39) A272V probably benign Het
Or5t18 A T 2: 86,637,091 (GRCm39) M84K possibly damaging Het
Or5w10 C A 2: 87,375,772 (GRCm39) V39L probably benign Het
Or7g27 T G 9: 19,249,943 (GRCm39) F62L possibly damaging Het
Or9m2 C T 2: 87,821,145 (GRCm39) A230V probably benign Het
Pan2 G A 10: 128,153,768 (GRCm39) E980K probably damaging Het
Pgm1 C A 4: 99,819,276 (GRCm39) Q149K probably benign Het
Pgm1 A G 4: 99,819,267 (GRCm39) K146E possibly damaging Het
Phlpp2 T C 8: 110,660,587 (GRCm39) probably benign Het
Plekhs1 G T 19: 56,459,474 (GRCm39) G75C probably damaging Het
Plin4 G A 17: 56,411,931 (GRCm39) T700I probably damaging Het
Podxl2 G A 6: 88,826,901 (GRCm39) P71L probably benign Het
Pot1a A T 6: 25,745,964 (GRCm39) V579D probably damaging Het
Poteg A G 8: 27,953,813 (GRCm39) D318G probably benign Het
Ppp4r3a A T 12: 101,010,878 (GRCm39) D554E probably damaging Het
Proser3 G A 7: 30,239,751 (GRCm39) A451V probably damaging Het
Shld2 T A 14: 33,981,574 (GRCm39) probably benign Het
Strc T C 2: 121,211,366 (GRCm39) probably benign Het
Syce1 C A 7: 140,358,300 (GRCm39) C216F possibly damaging Het
Syne2 A T 12: 75,951,033 (GRCm39) K395* probably null Het
Trim28 G A 7: 12,764,776 (GRCm39) G831D possibly damaging Het
Tyw1 A G 5: 130,317,752 (GRCm39) I434V possibly damaging Het
Ubox5 G A 2: 130,442,345 (GRCm39) A114V probably benign Het
Ubqln3 C T 7: 103,790,228 (GRCm39) V621I possibly damaging Het
Unc79 A G 12: 103,079,052 (GRCm39) D1543G possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Wrnip1 C A 13: 32,989,362 (GRCm39) H283Q probably benign Het
Zan A T 5: 137,392,863 (GRCm39) probably benign Het
Zcchc10 A T 11: 53,218,229 (GRCm39) K1* probably null Het
Zfp592 T A 7: 80,687,848 (GRCm39) S925T 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
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 PCR Primer
(F):5'- ATGACAAACACTTCTGGTCTGGCTATC -3'
(R):5'- GAAGTTCAAAATGGCCCTGGAAATCAC -3'

Sequencing Primer
(F):5'- GCACATTTGGGAAGTACCTGC -3'
(R):5'- TGGAAATCACGGACCAATATCTC -3'
Posted On 2014-04-24