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 129,119,152     (Assembly: GRCm38)    
Ref Base C
Codon Change tCg/tTg
Var Base T
Zygosity Heterozygous
Read Depth 93
Allele Frequency
C:R0.58
T:V0.42
Amino Acid Position 677
Amino Acid Change S->L (Serine -> Leucine)
Sample ID IGL01066
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 59 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.02
Sift Prediction deleterious

 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