Helz2 - SNV Details



 Gene Information 
Gene Name Helz2
Old Gene Names for Helz2 Bc006779
Gene Description cDNA sequence BC006779 [Source:MGI Symbol;Acc:MGI:2385169]
Uniprot Name
CCDS Name
Gene GO
RNA binding; positive regulation of transcription from RNA polymerase II promoter; nucleoside-triphosphatase activity; protein binding; cellular_component; ribonuclease activity; nucleotide binding; ligand-dependent nuclear receptor transcription coactivator activity; ATP binding; biological_process; molecular_function
Homolog in other species PRIC285
Immgen Expression
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027580
Chromosome 2
Coordinate 181,233,977     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Gcc
Var Base C
Zygosity Heterozygous
Read Depth 50
Allele Frequency
T:R0.40
C:V0.60
Amino Acid Position 1575
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01448
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000104459:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
RNase_II/R IPR001900 ENSMUSP00000104459 Smart 1567
1924
RNase_II/R IPR001900 ENSMUSP00000104459 Pfam 1567
1922

 Availability Details 
Availability Cryopreserved