|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein S14|
|Is this an essential gene?||Probably essential (E-score: 0.932)|
|Stock #||R5560 (G1)|
|Chromosomal Location||160195215-160202170 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 160195535 bp (GRCm38)|
|Amino Acid Change||Lysine to Arginine at position 6 (K6R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000107285 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078878] [ENSMUST00000097193] [ENSMUST00000135680]|
AA Change: K6R
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: K6R
|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 belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrps14||
(F):5'- CAGAACCTGTTTCCGGTGTTG -3'
(R):5'- TCTACAGCCAATTCTCGGCC -3'
(F):5'- AGACAACATGGCGGCGTC -3'
(R):5'- GGCCCTTCCTTTAACTAATTCTG -3'