Hcn1 - SNV Details



 Gene Information 
Gene Name Hcn1
Old Gene Names for Hcn1 Bcng1 , C630013b14rik
Gene Description hyperpolarization-activated, cyclic nucleotide-gated K+ 1 [Source:MGI Symbol;Acc:MGI:1096392]
MGI phenotype Mice homozygous for disruptions in this allele display learning deficiencies but are otherwise normal.
Uniprot Name
CCDS Name
Gene GO
retinal cone cell development; membrane; integral to membrane; sodium channel activity; protein binding; cAMP binding; axon; ion channel activity; ion transport; voltage-gated potassium channel activity; transmembrane transport; dendrite; apical protein localization
Homolog in other species HCN1
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021730
Chromosome 13
Coordinate 117,656,922     (Assembly: GRCm38)    
Ref Base T
Codon Change Tac/Cac
Var Base C
Zygosity Heterozygous
Read Depth 32
Allele Frequency
T:R0.41
C:V0.59
Amino Acid Position 237
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL01161
Median Base Quality 35
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown
Sift Score 0.02
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved