Abcc9 - SNV Details



 Human Rare Diseases 
Familial atrial fibrillation
Acromegaloid facial appearance syndrome
Hypertrichosis with acromegaloid facial appearence
Familial isolated dilated cardiomyopathy
Cantu syndrome

 Gene Information 
Gene Name Abcc9
Old Gene Names for Abcc9 Sur2 , Ai414027 , Ai449286
Gene Description ATP-binding cassette, sub-family C (CFTR/MRP), member 9 [Source:MGI Symbol;Acc:MGI:1352630]
MGI phenotype Mice homozygous for disruptions in this gene display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death starting at 6 weeks of age due to episodic coronary artery vasospasm.
Uniprot Name
CCDS Name
Gene GO
ATPase activity; potassium ion transmembrane transport; potassium channel activity; sarcolemma; sulfonylurea receptor activity; signal transduction; sarcomere; nucleoside-triphosphatase activity; ion channel binding; integral component of membrane; transport; nucleotide binding; defense response to virus; ATPase activity
coupled to transmembrane movement of substances; transmembrane transport; ATP binding; plasma membrane; voltage-gated potassium channel complex; ATP catabolic process
Homolog in other species ABCC9
Omim http://omim.org/entry/601439
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 IN C2C12, HEART, SKELETALMUSCLE)
MEDIAN(HIGH IN C2C12, HEART, SKELETALMUSCLE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030249
Chromosome 6
Coordinate 142,627,593     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 11
Allele Frequency
A:R0.36
G:V0.64
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL03035
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved