Abcc8 - SNV Details



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