Atp8b1 - SNV Details



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

 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 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
G:R0.35
A:V0.61
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

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

 Protein domains 
ENSMUSP00000025482:
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