|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L39|
|Is this an essential gene?||Probably essential (E-score: 0.948)|
|Stock #||R5375 (G1)|
|Chromosomal Location||84717576-84735742 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 84723902 bp|
|Amino Acid Change||Leucine to Proline at position 283 (L283P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112283 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000116584]|
|Predicted Effect||probably damaging
AA Change: L283P
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: L283P
|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 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrpl39||
(F):5'- TGCAAATCATGAAGAGGCTTG -3'
(R):5'- GCTTATGACAGATGGATTGAGTCAG -3'
(F):5'- CATGAAGAGGCTTGCAAAACTATTAG -3'
(R):5'- TTTGAATTGAGATACAGCCATAAGG -3'