Abcc10 - SNV Details



 Gene Information 
Gene Name Abcc10
Gene Description ATP-binding cassette, sub-family C (CFTR/MRP), member 10 [Source:MGI Symbol;Acc:MGI:2386976]
MGI phenotype Mice homzozygous for a knock-out allele exhibit increased sensitivity to paclitaxel-induced mortality associated with weight loss, decreased white blood cell, and small spleen and thymus cortex due to apoptosis and/or depopulation of lymphoid cells.
Uniprot Name
CCDS Name
Gene GO
ATPase activity; integral to membrane; nucleoside-triphosphatase activity; transport; nucleotide binding; ATPase activity
coupled to transmembrane movement of substances; transmembrane transport; ATP binding; plasma membrane
Homolog in other species ABCC10
Omim http://omim.org/entry/612509
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032842
Chromosome 17
Coordinate 46,310,426     (Assembly: GRCm38)    
Ref Base T
Codon Change Aca/Gca
Var Base C
Zygosity Heterozygous
Read Depth 20
Allele Frequency
T:R0.60
C:V0.40
Amino Acid Position 934
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01115
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.77
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000131843:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
ABC_transporter_type1 IPR017940 ENSMUSP00000131843 Prosite_profiles 888
1215
ABC transporter type 1, transmembrane domain ABC_transptrTM_dom_typ1 IPR011527 ENSMUSP00000131843 Superfamily 875
1231 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved