|Institutional Source||Beutler Lab|
|Gene Name||RB transcriptional corepressor like 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5802 (G1)|
|Chromosomal Location||157145893-157204534 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 157161433 bp|
|Amino Acid Change||Threonine to Alanine at position 859 (T859A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029170 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029170]|
|Predicted Effect||probably benign
AA Change: T859A
PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: T859A
|Meta Mutation Damage Score||0.1444|
|Coding Region Coverage||
|Validation Efficiency||97% (63/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rbl1||
(F):5'- CTGGCATCCTTTAAACCAAGAAATC -3'
(R):5'- TGGTAACTGTGTCCCCATGG -3'
(F):5'- CATCCTTTAAACCAAGAAATCCAAAC -3'
(R):5'- ATCTTTGCTCAGAGCCGT -3'