|Institutional Source||Beutler Lab|
|Gene Name||tRNA aspartic acid methyltransferase 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.357)|
|Stock #||R7329 (G1)|
|Chromosomal Location||13509014-13544668 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 13516122 bp|
|Amino Acid Change||Leucine to Proline at position 323 (L323P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000114572 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000124488]|
|Predicted Effect||probably damaging
AA Change: L323P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L323P
|Meta Mutation Damage Score||0.6403|
|Coding Region Coverage||
|Validation Efficiency||100% (78/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have a decreased proportion of natural killer cells in the peripheral blood. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trdmt1||
(F):5'- AGGGCAGCAGGGATTCATTC -3'
(R):5'- CTGGTGTCATTATCCAGCCAATTATAC -3'
(F):5'- TCATACAATGCCCGTGTGAG -3'
(R):5'- CCAGCCAATTATACAATTGTTGCAC -3'