Atp8b1 - SNV Details

 Human Rare Diseases 
Progressive familial intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 1
Intrahepatic cholestasis of pregnancy

 Gene Information 
Gene Name Atp8b1
Old Gene Names for Atp8b1 Ai451886
Gene Description ATPase, class I, type 8B, member 1 [Source:MGI Symbol;Acc:MGI:1859665]
MGI 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.
Uniprot Name
Gene GO
negative regulation of transcription
DNA-dependent; membrane; ATPase activity
coupled to transmembrane movement of ions
phosphorylative mechanism; catalytic activity; integral to membrane; apical plasma membrane; metal ion binding; endoplasmic reticulum; phospholipid-translocating ATPase activity; metabolic process; protein binding; bile acid metabolic process; brush border membrane; magnesium ion binding; nucleotide binding; cation transport; ATP binding; hydrolase activity
acting on acid anhydrides
catalyzing transmembrane movement of substances; phospholipid transport
Homolog in other species ATP8B1
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039529
Chromosome 18
Coordinate 64,546,113     (Assembly: GRCm38)    
Ref Base G
Codon Change Cac/Tac
Var Base A
Zygosity Heterozygous
Read Depth 23
Allele Frequency
Amino Acid Position 766
Amino Acid Change H->Y (Histidine -> Tyrosine)
Sample ID IGL01645
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

Polyphen Score 0.23
Polyphen Prediction Benign
Sift Score 0.09
Sift Prediction tolerated

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Cation-transporting P-type ATPase, subfamily IV ATPase_P-typ_Plipid-transp IPR006539 ENSMUSP00000025482 TIGRfam 92
813 Description available Search pathways
HAD-like domain HAD-like_dom IPR023214 ENSMUSP00000025482 Superfamily 439
937 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved