Isl2 - SNV Details



 Gene Information 
Gene Name Isl2
Old Gene Names for Isl2 3110001n10rik
Gene Description insulin related protein 2 (islet 2) [Source:MGI Symbol;Acc:MGI:109156]
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; neuron fate commitment; negative regulation of neuron differentiation; spinal cord motor neuron cell fate specification; intracellular; zinc ion binding; DNA binding; sequence-specific DNA binding transcription factor activity; retinal ganglion cell axon guidance; nucleus; regulation of transcription
DNA-dependent; visceral motor neuron differentiation
Homolog in other species ISL2
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032318
Chromosome 9
Coordinate 55,545,462     (Assembly: GRCm38)    
Ref Base G
Codon Change Ggt/Tgt
Var Base T
Zygosity Heterozygous
Read Depth 39
Allele Frequency
G:R0.41
T:V0.59
Amino Acid Position 335
Amino Acid Change G->C (Glycine -> Cysteine)
Sample ID IGL01123
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved