|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein S5|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7319 (G1)|
|Chromosomal Location||127587222-127606829 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 127595842 bp|
|Amino Acid Change||Serine to Arginine at position 196 (S196R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028852 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028852] [ENSMUST00000146131]|
|Predicted Effect||possibly damaging
AA Change: S196R
PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: S196R
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
|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 S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrps5||
(F):5'- TTTTAAATCTCCAGGGCGCTC -3'
(R):5'- TGATGCAGTTTGGACAATAATGTGG -3'
(F):5'- CGCTCTGGCTTCCTGTGG -3'
(R):5'- GGTTTTATTCAAAGATGCTCACGCC -3'