|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein S28|
|Is this an essential gene?||Possibly essential (E-score: 0.507)|
|Stock #||R1462 (G1)|
|Chromosomal Location||8802146-8923918 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 8900124 bp|
|Amino Acid Change||Histidine to Leucine at position 85 (H85L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038305 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042148]|
|Predicted Effect||possibly damaging
AA Change: H85L
PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: H85L
|Meta Mutation Damage Score||0.3573|
|Coding Region Coverage||
|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 has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrps28||
(F):5'- GATTCTACTTACTCGCCATCCACATCTG -3'
(R):5'- AGCCTTTCCACTGGTTCTGCTG -3'
(F):5'- GGTCTTTTACACACACAGTGAAAC -3'
(R):5'- GGCTTTTGGAGCAAACTTCTAC -3'