|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial rRNA methyltransferase 3|
|Synonyms||Rnmtl1, 4833420N02Rik, HC90|
|Is this an essential gene?||Possibly essential (E-score: 0.514)|
|Stock #||R0118 (G1)|
|Chromosomal Location||76243715-76250619 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 76249955 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 263 (V263E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042882 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040577]|
|Predicted Effect||possibly damaging
AA Change: V263E
PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: V263E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.056|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mrm3||
(F):5'- CAGCACTAGCAGCAATCGGTCTTC -3'
(R):5'- AAGAATCGGCGATCACATGCCCAG -3'
(F):5'- TCTTGGTCCCAGCAATGG -3'
(R):5'- ATGCCCAGTCACGGTCAC -3'