Gtf2ird2 - SNV Details



 Gene Information 
Gene Name Gtf2ird2
Old Gene Names for Gtf2ird2 1700012p16rik
Gene Description GTF2I repeat domain containing 2 [Source:MGI Symbol;Acc:MGI:2149780]
Uniprot Name
CCDS Name
Gene GO
regulation of transcription
DNA-templated; transition between fast and slow fiber; DNA binding; protein binding; nucleus; nucleic acid binding; transcription
DNA-templated
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP AND DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000015942
Chromosome 5
Coordinate 134,216,889     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 37
Allele Frequency
A:R0.38
G:V0.62
Amino Acid Change H->R (Histidine -> Arginine)
Sample ID IGL02750
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0.84
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved