Nsmf - SNV Details



 Gene Information 
Gene Name Nsmf
Old Gene Names for Nsmf Nelf
Gene Description NMDA receptor synaptonuclear signaling and neuronal migration factor [Source:MGI Symbol;Acc:MGI:1861755]
Uniprot Name
CCDS Name
Gene GO
cortical cytoskeleton; positive regulation of neuron migration; postsynaptic membrane; membrane; calcium-dependent protein binding; positive regulation of protein dephosphorylation; regulation of neuronal synaptic plasticity; cytoplasm; cellular response to electrical stimulus; apical dendrite; regulation of dendrite morphogenesis; protein binding; synapse; cell junction; nucleus; nuclear envelope; cellular response to amino acid stimulus; nuclear matrix; cellular response to gonadotropin stimulus; perikaryon; neuron projection; nuclear euchromatin; dendrite; regulation of neuron apoptotic process; postsynaptic density; nuclear membrane
Homolog in other species NSMF
Omim http://omim.org/entry/608137
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000006476
Chromosome 2
Coordinate 25,061,762     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 31
Allele Frequency
T:R0.45
C:V0.55
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02965
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0.08
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved