Rbl1 - SNV Details



 Gene Information 
Gene Name Rbl1
Old Gene Names for Rbl1 Aw547426
Gene Description retinoblastoma-like 1 (p107) [Source:MGI Symbol;Acc:MGI:103300]
MGI phenotype Homozygotes for targeted null mutations are viable and fertile, but may show impaired growth, myeloid hyperplasia in spleen and liver and give rise to cells with a 2X doubling time in vitro. These effects are genetic background dependent.
Uniprot Name
CCDS Name
Gene GO
regulation of cell cycle; cell cycle; transcription factor complex; protein binding; nucleus; chromatin modification; negative regulation of transcription from RNA polymerase II promoter; transcription factor binding; transcription
DNA-templated; regulation of lipid kinase activity
Homolog in other species RBL1
Omim http://omim.org/entry/116957
Immgen Expression
MEDIAN/HIGH(LOW IN MYELOID GROUP, HIGH IN BCELL GROUP, ABT GROUP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027641
Chromosome 2
Coordinate 157,167,413     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02926
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved