|Institutional Source||Beutler Lab|
|Gene Name||retinoblastoma binding protein 8, endonuclease|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R2002 (G1)|
|Chromosomal Location||11633276-11743207 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 11727166 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000111527 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047322] [ENSMUST00000115861]|
|Coding Region Coverage||
|Validation Efficiency||97% (72/74)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele die at E4.0 as blastocysts fail to enter S phase and arrest at G1, leading to elevated cell death. Heterozygous mutant mice display a shortened lifespan due to formation of multiple tumors, mostly large lymphomasof both B and T cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rbbp8||
(F):5'- TCCTAAGGTACAAAAGGAAATATGGC -3'
(R):5'- TGACTATACATCTCATTCCACATTTG -3'
(F):5'- CAGATCTCTTGAGTTTGAGGCCAAC -3'
(R):5'- CATTCCACATTTGATCAAAGTAACC -3'