|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L10|
|Synonyms||MRP-L8, 0610040E02Rik, Rpml8|
|Is this an essential gene?||Probably essential (E-score: 0.951)|
|Stock #||R7720 (G1)|
|Chromosomal Location||97041560-97049213 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 97047537 bp (GRCm38)|
|Amino Acid Change||Valine to Glycine at position 171 (V171G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001485 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001485] [ENSMUST00000054252] [ENSMUST00000090020] [ENSMUST00000168565]|
AA Change: V171G
PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: V171G
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
|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 39S subunit protein. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Nov 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrpl10||
(F):5'- GGTTGCACTCTGCTTGGTAC -3'
(R):5'- TTATTTACCTACTGGGGAGCATG -3'
(F):5'- TACAGCCTGTGACTAAGGTATGTGAC -3'
(R):5'- CTACTGGGGAGCATGCACATG -3'