|Institutional Source||Beutler Lab|
|Gene Name||tRNA methyltransferase 1 like|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6060 (G1)|
|Chromosomal Location||151428542-151458161 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 151457580 bp (GRCm38)|
|Amino Acid Change||Asparagine to Serine at position 642 (N642S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068309 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065625] [ENSMUST00000189655] [ENSMUST00000190070]|
|AlphaFold||no structure available at present|
AA Change: N642S
PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: N642S
|Meta Mutation Damage Score||0.1335|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and anatomically normal but display significantly impaired motor coordination and aberrant exploratory behavior. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trmt1l||
(F):5'- CAGTGAGAATTGTGTAGTCGACAG -3'
(R):5'- AACTGCATCAGAGGGGCATC -3'
(F):5'- TGTGTAGTCGACAGGATTATAAAAGC -3'
(R):5'- TACGGATGCCCATTGGGTC -3'