|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein S27|
|Is this an essential gene?||Probably essential (E-score: 0.922)|
|Stock #||R7165 (G1)|
|Chromosomal Location||99344786-99415562 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 99414799 bp|
|Amino Acid Change||Threonine to Serine at position 357 (T357S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062326 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052249] [ENSMUST00000224660]|
|Predicted Effect||possibly damaging
AA Change: T357S
PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: T357S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2057|
|Coding Region Coverage||
|Validation Efficiency||98% (79/81)|
|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 may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrps27||
(F):5'- CCTTGGTTTAACAGCTGAGCAG -3'
(R):5'- CAGAACTTCAGGCTGCTTTCTC -3'
(F):5'- TTTAACAGCTGAGCAGGAGAGCC -3'
(R):5'- GCTTTCTCTGCCGCACTCAG -3'