|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein S15|
|Is this an essential gene?||Probably essential (E-score: 0.948)|
|Stock #||R7834 (G1)|
|Chromosomal Location||126046925-126055532 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 126055389 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Lysine at position 217 (E217K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030675 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030675] [ENSMUST00000035497] [ENSMUST00000143712]|
AA Change: E217K
PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: E217K
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrps15||
(F):5'- CCTCCCTGAACTGAGGTACAAAG -3'
(R):5'- TCTATGACTGCGTCCTCTGG -3'
(F):5'- TCCCTGAACTGAGGTACAAAGAGTAG -3'
(R):5'- CCTCTTGCTCAGGTTAAAAAGAAGGC -3'