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 4,689,907     (Assembly: GRCm38)    
Ref Base T
Codon Change tAc/tGc
Var Base C
Zygosity Heterozygous
Read Depth 20
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 7
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL02525
Median Base Quality 31.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 70 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000129198:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ribosomal protein L18a/LX Ribosomal_L18a/LX IPR023573 ENSMUSP00000129198 Pfam 4
127 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved