Incidental Mutation 'IGL01525:Atp8b1'
ID 89536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp8b1
Ensembl Gene ENSMUSG00000039529
Gene Name ATPase, class I, type 8B, member 1
Synonyms Ic, FIC1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01525
Quality Score
Status
Chromosome 18
Chromosomal Location 64662050-64794342 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 64672323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 1014 (R1014*)
Ref Sequence ENSEMBL: ENSMUSP00000025482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025482]
AlphaFold Q148W0
Predicted Effect probably null
Transcript: ENSMUST00000025482
AA Change: R1014*
SMART Domains Protein: ENSMUSP00000025482
Gene: ENSMUSG00000039529
AA Change: R1014*

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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A G 15: 74,458,684 (GRCm39) E322G probably damaging Het
Aldh8a1 A T 10: 21,267,472 (GRCm39) I286F probably damaging Het
Arnt2 T A 7: 83,924,616 (GRCm39) T404S possibly damaging Het
Asb1 A G 1: 91,479,846 (GRCm39) T190A probably damaging Het
Dgcr8 T C 16: 18,101,808 (GRCm39) D158G probably damaging Het
Dock5 A G 14: 68,043,169 (GRCm39) probably benign Het
Fras1 C T 5: 96,887,195 (GRCm39) T2659I probably damaging Het
Galt A G 4: 41,756,068 (GRCm39) T45A probably benign Het
Gtpbp3 A G 8: 71,943,078 (GRCm39) D164G probably damaging Het
Ift70b A T 2: 75,767,226 (GRCm39) M509K probably damaging Het
Kmt2c T A 5: 25,534,439 (GRCm39) probably benign Het
Lrrc59 A T 11: 94,525,522 (GRCm39) Q106L probably damaging Het
Mgat4c A G 10: 102,214,057 (GRCm39) I13M probably damaging Het
Muc19 T A 15: 91,770,877 (GRCm39) noncoding transcript Het
Myo5b C T 18: 74,873,620 (GRCm39) A1508V probably damaging Het
Or2o1 A G 11: 49,051,501 (GRCm39) Y220C probably damaging Het
Or52ad1 T A 7: 102,995,386 (GRCm39) I250F probably benign Het
Or5d39 T C 2: 87,980,221 (GRCm39) I47M probably benign Het
Plxna2 A G 1: 194,394,619 (GRCm39) E500G probably benign Het
Psme4 T A 11: 30,759,936 (GRCm39) probably benign Het
S100a8 A T 3: 90,576,876 (GRCm39) S10C probably damaging Het
Sdk1 T C 5: 141,985,675 (GRCm39) V769A probably damaging Het
Sorbs1 G T 19: 40,338,422 (GRCm39) T326K probably damaging Het
Spata31d1b T C 13: 59,860,280 (GRCm39) I51T probably benign Het
Thumpd3 T C 6: 113,024,597 (GRCm39) S64P probably damaging Het
Ticrr T C 7: 79,332,197 (GRCm39) L843P probably damaging Het
Ttn A T 2: 76,641,108 (GRCm39) I13587N probably damaging Het
Txndc2 A G 17: 65,945,908 (GRCm39) S90P possibly 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
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 64,689,950 (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
Posted On 2013-12-03