|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L50|
|Is this an essential gene?||Possibly non essential (E-score: 0.251)|
|Stock #||R3829 (G1)|
|Chromosomal Location||49512596-49521093 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 49514539 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 44 (E44G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062476 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057829]|
|Predicted Effect||probably damaging
AA Change: E44G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: E44G
|Meta Mutation Damage Score||0.2669|
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
|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 putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrpl50||
(F):5'- ATCAGCTAAGCCTGCTAAGAG -3'
(R):5'- TTGGTTCAGCTGCGCATGTC -3'
(F):5'- AGCCTGCTAAGAGTCTGAACTTC -3'
(R):5'- TCAGCTGCGCATGTCTGAGG -3'