Atp8b1 - SNV Details



 Human Rare Diseases 
Benign recurrent intrahepatic cholestasis type 1
Progressive familial 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
CCDS 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
Omim http://omim.org/entry/602397
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000039529
Chromosome 18
Coordinate 64,538,695     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 50
Allele Frequency
G:R0.56
T:V0.44
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL02008
Median Base Quality 36.5
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 73 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved