|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L19|
|Synonyms||Rpml15, D6Ertd157e, 9030416F12Rik, RLX1, MRP-L15|
|Is this an essential gene?||Probably essential (E-score: 0.933)|
|Stock #||R7408 (G1)|
|Chromosomal Location||81957851-81965958 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 81965812 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 39 (G39D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032124 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032124]|
|Predicted Effect||possibly damaging
AA Change: G39D
PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: G39D
|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 39S subunit protein. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrpl19||
(F):5'- TTCGTGATCTAGAGAGGGGC -3'
(R):5'- TTTAGTCCCATAGGAGCCACC -3'
(F):5'- AACCCGATTTCGTGCAGC -3'
(R):5'- ATAGGAGCCACCGTCCG -3'