|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L45|
|Essential gene?||Probably essential (E-score: 0.951)|
|Stock #||R2105 (G1)|
|Chromosomal Location||97315716-97329920 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 97325747 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 167 (H167L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019026 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019026]|
AA Change: H167L
PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: H167L
|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. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrpl45||
(F):5'- GACTGAACACCATCTGCAGG -3'
(R):5'- TCCCACAGACATATATGCAGGC -3'
(F):5'- AACACCATCTGCAGGCTTGG -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'