Abcb4 - SNV Details



 Human Rare Diseases 
Low phospholipid associated cholelithiasis
Intrahepatic cholestasis of pregnancy
Progressive familial intrahepatic cholestasis type 3

 Gene Information 
Gene Name Abcb4
Old Gene Names for Abcb4 Pgy3 , Pgy-2 , Pgy-3 , Pgy2
Gene Description ATP-binding cassette, sub-family B (MDR/TAP), member 4 [Source:MGI Symbol;Acc:MGI:97569]
MGI phenotype Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months.
Uniprot Name
CCDS Name
Gene GO
ATPase activity; membrane; Golgi membrane; integral to membrane; apical plasma membrane; nucleoside-triphosphatase activity; response to glucocorticoid stimulus; xenobiotic-transporting ATPase activity; transport; nucleotide binding; ATPase activity
coupled to transmembrane movement of substances; transmembrane transport; ATP binding; intercellular canaliculus
Homolog in other species ABCB4
Omim http://omim.org/entry/171060
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000042476
Chromosome 5
Coordinate 8,894,166     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 35
Allele Frequency
T:R0.54
C:V0.46
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL01329
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved , Line Propagating