|Institutional Source||Beutler Lab|
|Gene Name||RB transcriptional corepressor 1|
|Synonyms||Rb-1, Rb, pRb|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0595 (G1)|
|Chromosomal Location||73183673-73325822 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 73273680 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 330 (F330I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022701 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022701]|
|Predicted Effect||probably damaging
AA Change: F330I
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: F330I
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.7875|
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rb1||
(F):5'- GCGCTATGCTGTCCAAAGATTTCATTTC -3'
(R):5'- TGTGTTCAGCACTATTTTGTGCCATTG -3'
(F):5'- TTAAAGAACTACCTTTGCACTAGAC -3'
(R):5'- GACCGATCTTACTTTGAATCTGGAC -3'