|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L50|
|Is this an essential gene?||Possibly non essential (E-score: 0.313)|
|Stock #||R4572 (G1)|
|Chromosomal Location||49512596-49521093 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 49514399 bp|
|Amino Acid Change||Serine to Threonine at position 91 (S91T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062476 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057829]|
|Predicted Effect||possibly damaging
AA Change: S91T
PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: S91T
|Meta Mutation Damage Score||0.1367|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
|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'- ATTGGGAGGTAAATTACTAGCAACG -3'
(R):5'- TCCAGTCAGATGCTTGTGCC -3'
(F):5'- GAGGTAAATTACTAGCAACGAGTTC -3'
(R):5'- AGATGCTTGTGCCAAAGGTTCAC -3'