|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein S30|
|Is this an essential gene?||Probably essential (E-score: 0.928)|
|Stock #||R4030 (G1)|
|Chromosomal Location||118378381-118387252 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 118380541 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 381 (N381D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022245 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022245]|
|Predicted Effect||probably damaging
AA Change: N381D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N381D
|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 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'- TTCTCCTGGCTTGCCAACAG -3'
(R):5'- GGATGGATCATAAGTCTCGGG -3'
(F):5'- TGGCTTGCCAACAGCTGTG -3'
(R):5'- CCCGAGTATTCTGTTTGGATCAC -3'