|Institutional Source||Beutler Lab|
|Gene Name||polycomb group ring finger 6|
|Synonyms||4933407A11Rik, Rnf134, Mel18 and Bmi1-like RING finger protein, MBLR|
|Is this an essential gene?||Possibly non essential (E-score: 0.358)|
|Stock #||R1668 (G1)|
|Chromosomal Location||47033619-47050845 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 47040105 bp|
|Amino Acid Change||Alanine to Valine at position 286 (A286V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026032 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026032]|
|Predicted Effect||probably damaging
AA Change: A286V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A286V
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pcgf6||
(F):5'- GCCGCTCCCACACTCCAGAG -3'
(R):5'- AGCAGGCAGAACCCAGAGCAT -3'
(F):5'- AGAGAGCACTCTTTCTCCATCTG -3'
(R):5'- atcctcctgtgttgccttc -3'