|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein S31|
|Is this an essential gene?||Probably essential (E-score: 0.933)|
|Stock #||R0304 (G1)|
|Chromosomal Location||22411361-22429665 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 22421338 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 199 (I199F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033934 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033934]|
|Predicted Effect||probably benign
AA Change: I199F
PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: I199F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (95/97)|
|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. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrps31||
(F):5'- GCCGTGCCTCTGACTGCCT -3'
(R):5'- ccccaCGCACTAATATGCATCCCT -3'
(F):5'- CTGACTGCCTCCGTGATATGAG -3'
(R):5'- acccttacctccttcccc -3'