|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L42|
|Synonyms||HSPC204, 2700009F22Rik, Rpml31, 2900055D03Rik, D10Ertd322e, PTD007, MRP-L31|
|Essential gene?||Probably essential (E-score: 0.829)|
|Stock #||R7570 (G1)|
|Chromosomal Location||95480805-95501940 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 95480965 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 77 (S77P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151315 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075829] [ENSMUST00000217777] [ENSMUST00000218893] [ENSMUST00000219019]|
AA Change: S77P
PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|Coding Region Coverage||
|Validation Efficiency||98% (104/106)|
|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 protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrpl42||
(F):5'- CCAGGGGAAAAGACTTTAATGTTTC -3'
(R):5'- AATGGCGGATTGTGGCTTATTACTAAG -3'
(F):5'- CGACCACCTTAATGATGGT -3'
(R):5'- ACCACAGAAATTTAAGTTGTC -3'