|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial translational release factor 1-like|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1636 (G1)|
|Chromosomal Location||5811887-5823910 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 5813265 bp|
|Amino Acid Change||Serine to Proline at position 355 (S355P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019908 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019908]|
|Predicted Effect||probably damaging
AA Change: S355P
PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: S355P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1674|
|Coding Region Coverage||
|Validation Efficiency||96% (85/89)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mtrf1l||
(F):5'- CGTGTAGGCTGTTCACAGCACTATC -3'
(R):5'- ACCCCTATGTTATTTGGGGAGTCAGG -3'
(F):5'- AGCCCTAACGTGCTTGAC -3'
(R):5'- GGATCTAAATGCATCTCTTATACCTC -3'