Abcc3 - SNV Details



 Gene Information 
Gene Name Abcc3
Old Gene Names for Abcc3 1700019l09rik
Gene Description ATP-binding cassette, sub-family C (CFTR/MRP), member 3 [Source:MGI Symbol;Acc:MGI:1923658]
MGI phenotype Mice homozygous for disruptions in this gene exhibit increased liver bile acid levels after bile duct ligation
Uniprot Name
CCDS Name
Gene GO
ATPase activity; integral to membrane; transporter activity; integral to plasma membrane; nucleoside-triphosphatase activity; transport; nucleotide binding; ATPase activity
coupled to transmembrane movement of substances; transmembrane transport; ATP binding
Homolog in other species ABCC3
Omim http://omim.org/entry/604323
Immgen Expression
LOW/MEDIAN(HIGH IN MF.RP.SP)
Gnf Expression
HIGH(HIGHER IN IMM GROUPS, OESTEO GROUP, EPITH GROUP, BLADDER, UTERUS, OVARY, LUNG, TRACHEA AND ADIPOSETISSUE, PROSTATE, UMBLICALCORD)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000020865
Chromosome 11
Coordinate 94,359,232     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 39
Allele Frequency
T:R0.46
C:V0.54
Amino Acid Change Disrupted splicing
Sample ID IGL01154
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved