Bsn - SNV Details



 Gene Information 
Gene Name Bsn
Gene Description bassoon [Source:MGI Symbol;Acc:MGI:1277955]
MGI phenotype Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures.
Uniprot Name
CCDS Name
Gene GO
cytoplasm; metal ion binding; neuron projection terminus; extrinsic to membrane; protein binding; synapse; cell junction; nucleus; synapse part; presynaptic active zone; microtubule cytoskeleton; dendrite
Homolog in other species BSN
Omim http://omim.org/entry/604020
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
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
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032589
Chromosome 9
Coordinate 108,110,913     (Assembly: GRCm38)    
Ref Base A
Codon Change Tca/Cca
Var Base G
Zygosity Heterozygous
Read Depth 31
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Position 2547
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01330
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown

 Availability Details 
Availability Progeny Cryopreserved