|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein S9|
|Essential gene?||Probably essential (E-score: 0.900)|
|Stock #||R7940 (G1)|
|Chromosomal Location||42851233-42905683 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 42862648 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 105 (D105E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056855 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057208]|
AA Change: D105E
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: D105E
|Meta Mutation Damage Score||0.6329|
|Coding Region Coverage||
|Validation Efficiency||98% (56/57)|
|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. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrps9||
(F):5'- ACAGTGGCCTGCTAATTCACTG -3'
(R):5'- TCTCTAGCCAAGGGGAAGAAC -3'
(F):5'- GGCCTGCTAATTCACTGTTTAATTTC -3'
(R):5'- TTACTCAAACAACGTGAAGTATCAG -3'