Gm17541,Itsn2 - SNV Details



 Gene Information 
Gene Name Gm17541 , Itsn2
Old Gene Names for Itsn2 Ai327390 , Sh3d1b
Gene Description intersectin 2 [Source:MGI Symbol;Acc:MGI:1338049],predicted gene, 17541 [Source:MGI Symbol;Acc:MGI:4937175]
Uniprot Name
CCDS Name
Gene GO
intracellular; Rho guanyl-nucleotide exchange factor activity; protein binding; regulation of Rho protein signal transduction; calcium ion binding; phospholipid binding
structural constituent of ribosome; translation; ribosome
Homolog in other species NO_HOMOLOG,ITSN2
Omim NO_OMIM,http://omim.org/entry/604464
Immgen Expression
NO_IMMGEN,HIGH
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE),NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000091732
Chromosome 12
Coordinate 4,689,619     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gCc
Var Base G
Zygosity Heterozygous
Read Depth 27
Allele Frequency
A:R0.56
G:V0.44
Amino Acid Position 103
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02006
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.03
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved