|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial ribosomal protein L44|
|Is this an essential gene?||Probably essential (E-score: 0.923)|
|Stock #||R0054 (G1)|
|Chromosomal Location||79776018-79781445 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 79779495 bp|
|Amino Acid Change||Leucine to Serine at position 219 (L219S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027464 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027464] [ENSMUST00000143368]|
|Predicted Effect||probably damaging
AA Change: L219S
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L219S
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.29|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
|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'- ACAACAGCCTATGAGGACATCCAGG -3'
(R):5'- AAGGCAGAGCAGTTGTGCTTCC -3'
(F):5'- CATCCAGGTATAACTCTGGTAGAGTG -3'
(R):5'- AGTTGTGCTTCCAGACTGC -3'