|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L35|
|Is this an essential gene?||Probably essential (E-score: 0.910)|
|Stock #||R7210 (G1)|
|Chromosomal Location||71812997-71826969 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 71817738 bp|
|Amino Acid Change||Leucine to Serine at position 82 (L82S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066493 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065103] [ENSMUST00000205435]|
|Predicted Effect||possibly damaging
AA Change: L82S
PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: L82S
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
|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. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrpl35||
(F):5'- TCTGCACAAGGACACAGCAG -3'
(R):5'- TGACCCTAAAGTCTTGTATGTGC -3'
(F):5'- TACCGTAAGATGAGTGCACACCATG -3'
(R):5'- CCCTAAAGTCTTGTATGTGCTAAAC -3'