|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein S35|
|Synonyms||MRPS28, MRP-S28, MDSO23|
|Is this an essential gene?||Probably essential (E-score: 0.962)|
|Stock #||R6682 (G1)|
|Chromosomal Location||147042764-147073991 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 147048279 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 97 (E97V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048348 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036111] [ENSMUST00000137556]|
|Predicted Effect||possibly damaging
AA Change: E97V
PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: E97V
|Predicted Effect||probably benign
AA Change: E53V
PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|Predicted Effect||noncoding transcript
|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 had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrps35||
(F):5'- AGGACCTTTCTCAGTTCCTCAG -3'
(R):5'- GAGAAGCCACAGGATTGACC -3'
(F):5'- CAGTTCCTCAGTCTTTGAAATATGG -3'
(R):5'- GACTCTAAGTCTTCTTTACCATGAAC -3'