|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein S30|
|Is this an essential gene?||Probably essential (E-score: 0.928)|
|Stock #||R6700 (G1)|
|Chromosomal Location||118378381-118387252 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 118380598 bp|
|Amino Acid Change||Serine to Threonine at position 362 (S362T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022245 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022245]|
|Predicted Effect||probably damaging
AA Change: S362T
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: S362T
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6558|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
|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 is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrps30||
(F):5'- AACAGCTGTGCTCCGTCTTC -3'
(R):5'- GGATGGATCATAAGTCTCGGGAC -3'
(F):5'- TCTCTTGGTTTATTTAGCAGAAAGTG -3'
(R):5'- TACCGGAATAGAATATAGAGTTCACG -3'