Rrp1b - SNV Details



 Gene Information 
Gene Name Rrp1b
Old Gene Names for Rrp1b 2600005c20rik
Gene Description ribosomal RNA processing 1 homolog B (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919712]
Uniprot Name
CCDS Name
Gene GO
negative regulation of phosphatase activity; euchromatin; protein binding; binding; nucleus; cytosol; heterochromatin; rRNA processing; preribosome
small subunit precursor; nucleolus
Homolog in other species RRP1B
Omim http://omim.org/entry/610654
Immgen Expression
MEDIAN/HIGH(LOW IN MYELOID GROUP, HIGH IN BCELL GROUP, ABT GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058392
Chromosome 17
Coordinate 32,058,578     (Assembly: GRCm38)    
Ref Base T
Codon Change Ttt/Ctt
Var Base C
Zygosity Heterozygous
Read Depth 28
Allele Frequency
T:R0.57
C:V0.43
Amino Acid Position 611
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL01383
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Possibly damaging
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved