Abcb4 - SNV Details



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

 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
coupled to transmembrane movement of substances
ATP binding
ATPase activity
Golgi membrane
apical plasma membrane
integral to membrane
intercellular canaliculus
membrane fraction
nucleoside-triphosphatase activity
nucleotide binding
protein binding
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 Non-synonymous
Ensembl ID ENSMUSG00000042476
Chromosome 5
Coordinate 8,927,916     (Assembly: GRCm38)    
Ref Base A
Codon Change gAg/gGg
Var Base G
Zygosity Heterozygous
Read Depth 32
Allele Frequency
A:0.50
G:0.50
Amino Acid Position 498
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL00663
Median Base Quality 38.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 11 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000003717:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000003717 Superfamily 391
613 Description available Search pathways
ABC transporter-like ABC_transporter-like IPR003439 ENSMUSP00000003717 Pfam 433
558 Description available Search pathways
ABC transporter-like ABC_transporter-like IPR003439 ENSMUSP00000003717 Prosite_profiles 391
627 Description available Search pathways
AAA+ ATPase domain AAA+_ATPase IPR003593 ENSMUSP00000003717 Smart 418
610 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved