Polr1b - SNV Details



 Gene Information 
Gene Name Polr1b
Old Gene Names for Polr1b D630020h17rik , Rpo1-2
Gene Description polymerase (RNA) I polypeptide B [Source:MGI Symbol;Acc:MGI:108014]
MGI phenotype Mice homozygous for a gene trapped allele exhibit embryonic lethality prior to implantation.
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; nucleologenesis; cytoplasm; metal ion binding; DNA binding; protein binding; DNA-directed RNA polymerase I complex; transcription from RNA polymerase I promoter; nucleus; ribonucleoside binding; rRNA transcription; RNA polymerase I activity; embryo implantation; DNA-directed RNA polymerase activity; nucleolus; transcription
DNA-templated
Homolog in other species POLR1B
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027395
Chromosome 2
Coordinate 129,126,068     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 27
Allele Frequency
A:R0.56
G:V0.44
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL03009
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.46
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved