|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L44|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R8713 (G1)|
|Chromosomal Location||79776018-79781445 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 79777991 bp (GRCm38)|
|Amino Acid Change||Arginine to Cysteine at position 105 (R105C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027464 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027464] [ENSMUST00000143368]|
AA Change: R105C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R105C
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
|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 Mrpl44||
(F):5'- ACCTTACGTGGTACCATGC -3'
(R):5'- TCTGCACTGAGGGTCAACTG -3'
(F):5'- ACGTGGTACCATGCCCTCC -3'
(R):5'- ACTGAGGGTCAACTGCTCCAC -3'