|Institutional Source||Beutler Lab|
|Gene Name||ribosomal protein S6|
|Is this an essential gene?||Probably essential (E-score: 0.945)|
|Stock #||R8077 (G1)|
|Chromosomal Location||86854660-86857412 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 86855921 bp|
|Amino Acid Change||Serine to Proline at position 148 (S148P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099878 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102814]|
|Predicted Effect||probably benign
AA Change: S148P
PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
AA Change: S148P
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice with an inducible, liver-specific null mutation exhibit failure of liver regeneration and an absence of 40S ribosomes in hepatocytes. Mice with a mutation where serines are unphosphorylatable exhibit hypoinsulinemia, impaired glucose tolerance, and smaller MEFs and beta cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rps6||
(F):5'- AGAATCCTGGCCATTCCTAACC -3'
(R):5'- GTGGACGCTAATCTCAGTGTTC -3'
(F):5'- CCCAAAGCCATGAACATAAAGTCTGG -3'
(R):5'- ATTGAGAGAGATCTGCCTCCTAG -3'