|Institutional Source||Beutler Lab|
|Gene Name||ribosomal protein S17|
|Essential gene?||Probably essential (E-score: 0.951)|
|Stock #||R7353 (G1)|
|Chromosomal Location||81342732-81345254 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 81344345 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Valine at position 76 (E76V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079628 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080813] [ENSMUST00000098331] [ENSMUST00000130310] [ENSMUST00000178892]|
AA Change: E76V
PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: E76V
|Coding Region Coverage||
|MGI Phenotype||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 four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rps17||
(F):5'- TCAAGGTCGGCTGATTACAGG -3'
(R):5'- GGGGTACATGACATTCGGAG -3'
(F):5'- TGATTACAGGCACCCTCGG -3'
(R):5'- TGGACATCTGAACAGTGCTG -3'