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; transcription
DNA-dependent; cytoplasm; metal ion binding; DNA binding; protein binding; DNA-directed RNA polymerase I complex; nucleus; ribonucleoside binding; rRNA transcription; embryo implantation; DNA-directed RNA polymerase activity; nucleolus; embryo development
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 129,125,555     (Assembly: GRCm38)    
Ref Base A
Codon Change aAc/aGc
Var Base G
Zygosity Heterozygous
Read Depth 78
Allele Frequency
A:R0.51
G:V0.49
Amino Acid Position 956
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL01536
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0.22
Polyphen Prediction Benign
Sift Score 0.07
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000099494:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
DNA-directed RNA polymerase, subunit 2, domain 6 DNA-dir_RNA_pol_su2_6 IPR007120 ENSMUSP00000099494 Pfam 668
1030 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved