|Institutional Source||Beutler Lab|
|Gene Name||mitochondrial translational release factor 1|
|Is this an essential gene?||Probably non essential (E-score: 0.097)|
|Stock #||R0560 (G1)|
|Chromosomal Location||79397772-79423587 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 79406850 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 199 (D199E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022600 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022600]|
|Predicted Effect||probably damaging
AA Change: D199E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D199E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (26/26)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mtrf1||
(F):5'- TGGAGGTCAGAGAGCCATGTACTG -3'
(R):5'- TGTAGGACTGTGTTACCCAGCAGAC -3'
(F):5'- GCCATGTACTGTAAAAGAGTTTTGG -3'
(R):5'- gacccatctcgccagcc -3'