|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L47|
|Synonyms||CGI-204, 4833424P18Rik, NCM1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8250 (G1)|
|Chromosomal Location||32725397-32737605 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 32731233 bp (GRCm38)|
|Amino Acid Change||Asparagine to Serine at position 112 (N112S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048078 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029214] [ENSMUST00000043966]|
AA Change: N112S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N112S
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: 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. This gene is immediately adjacent to the gene for BRG1/brm-associated factor 53A (also known as BAF complex 53 kDa subunit protein A in humans) in a tail-to-tail orientation. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrpl47||
(F):5'- GTGACAAAAGGCTCGCATG -3'
(R):5'- TGCTGTTATGACCCTCTGGC -3'
(F):5'- AAGGCTCGCATGTGGGACTG -3'
(R):5'- TCTGGCACTCCACACAGG -3'