Abcc8 - SNV Details



 Human Rare Diseases 
MODY syndrome
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Permanent neonatal diabetes mellitus
Transient neonatal diabetes mellitus

 Gene Information 
Gene Name Abcc8
Old Gene Names for Abcc8 Sur , D930031b21rik
Gene Description ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Source:MGI Symbol;Acc:MGI:1352629]
MGI phenotype Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance.
Uniprot Name
CCDS Name
Gene GO
ATPase activity; sulfonylurea receptor activity; signal transduction; nucleoside-triphosphatase activity; ion channel binding; integral component of membrane; transport; nucleotide binding; ATPase activity
coupled to transmembrane movement of substances; transmembrane transport; ATP binding; plasma membrane; voltage-gated potassium channel complex; ATP catabolic process; potassium ion transport
Homolog in other species ABCC8
Omim http://omim.org/entry/600509
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN
HIGH
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040136
Chromosome 7
Coordinate 46,166,921     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 11
Allele Frequency
C:R0.55
T:V0.46
Amino Acid Change R->Q (Arginine -> Glutamine)
Sample ID IGL02706
Median Base Quality 38
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 0.27
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved