Incidental Mutation 'IGL01135:Trdmt1'
ID 50599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trdmt1
Ensembl Gene ENSMUSG00000026723
Gene Name tRNA aspartic acid methyltransferase 1
Synonyms Rnmt2, Dnmt2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # IGL01135
Quality Score
Chromosome 2
Chromosomal Location 13513825-13549479 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 13526071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124488] [ENSMUST00000144957]
AlphaFold O55055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028055
Predicted Effect probably null
Transcript: ENSMUST00000124488
SMART Domains Protein: ENSMUSP00000114572
Gene: ENSMUSG00000026723

Pfam:DNA_methylase 4 391 1.6e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144957
SMART Domains Protein: ENSMUSP00000141758
Gene: ENSMUSG00000026723

Pfam:DNA_methylase 4 84 4.7e-13 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
5730507C01Rik G A 12: 18,583,375 (GRCm39) R145H possibly damaging Het
Acox3 T A 5: 35,746,096 (GRCm39) V93E probably benign Het
Ankar T C 1: 72,704,378 (GRCm39) N848S probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ceacam23 A T 7: 17,636,396 (GRCm39) noncoding transcript Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Ckmt1 A C 2: 121,191,631 (GRCm39) D267A probably damaging Het
Dtl G T 1: 191,280,442 (GRCm39) T364K probably damaging Het
Fat1 T A 8: 45,477,877 (GRCm39) F2308I probably damaging Het
Fbxo41 A T 6: 85,454,890 (GRCm39) S673T probably benign Het
Flnb G A 14: 7,909,736 (GRCm38) V1397I probably benign Het
Gdi2 A G 13: 3,598,855 (GRCm39) probably benign Het
Grik3 C T 4: 125,526,208 (GRCm39) T147I probably benign Het
Htr1a T C 13: 105,581,792 (GRCm39) V344A possibly damaging Het
Isg20l2 A T 3: 87,839,068 (GRCm39) D93V probably damaging Het
Kcnt2 T C 1: 140,282,293 (GRCm39) probably null Het
Mfsd4b3-ps A G 10: 39,824,068 (GRCm39) M64T probably benign Het
Nox3 T A 17: 3,746,527 (GRCm39) probably benign Het
Or2ag12 C T 7: 106,277,400 (GRCm39) A98T probably benign Het
Pikfyve T A 1: 65,290,794 (GRCm39) N1204K probably damaging Het
Pou4f3 C T 18: 42,529,031 (GRCm39) Q325* probably null Het
Rap1a T A 3: 105,639,351 (GRCm39) T103S probably benign Het
Rfc4 G A 16: 22,934,526 (GRCm39) R165C probably damaging Het
Smtnl1 A G 2: 84,649,231 (GRCm39) S8P probably benign Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tcf20 T A 15: 82,738,101 (GRCm39) M1117L probably benign Het
Tent5a A G 9: 85,208,652 (GRCm39) V57A probably damaging Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Twf2 A G 9: 106,090,027 (GRCm39) I127V probably benign Het
Unc13c A G 9: 73,392,175 (GRCm39) V2059A probably damaging Het
Other mutations in Trdmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Trdmt1 APN 2 13,524,739 (GRCm39) missense probably benign 0.00
IGL02491:Trdmt1 APN 2 13,521,483 (GRCm39) missense probably benign 0.17
IGL03025:Trdmt1 APN 2 13,528,246 (GRCm39) missense probably damaging 0.98
R0167:Trdmt1 UTSW 2 13,520,829 (GRCm39) missense probably damaging 1.00
R0193:Trdmt1 UTSW 2 13,549,428 (GRCm39) missense probably damaging 1.00
R0638:Trdmt1 UTSW 2 13,521,459 (GRCm39) splice site probably benign
R0690:Trdmt1 UTSW 2 13,549,391 (GRCm39) missense probably benign 0.01
R0735:Trdmt1 UTSW 2 13,528,249 (GRCm39) missense probably benign 0.23
R1102:Trdmt1 UTSW 2 13,528,225 (GRCm39) splice site probably benign
R1432:Trdmt1 UTSW 2 13,524,657 (GRCm39) missense probably damaging 0.98
R1610:Trdmt1 UTSW 2 13,520,870 (GRCm39) missense probably damaging 1.00
R1935:Trdmt1 UTSW 2 13,516,420 (GRCm39) missense probably damaging 1.00
R1936:Trdmt1 UTSW 2 13,516,420 (GRCm39) missense probably damaging 1.00
R2060:Trdmt1 UTSW 2 13,524,725 (GRCm39) missense probably benign 0.01
R2231:Trdmt1 UTSW 2 13,530,436 (GRCm39) missense probably damaging 1.00
R2339:Trdmt1 UTSW 2 13,524,871 (GRCm39) nonsense probably null
R3703:Trdmt1 UTSW 2 13,526,108 (GRCm39) missense probably benign 0.16
R3735:Trdmt1 UTSW 2 13,524,684 (GRCm39) missense possibly damaging 0.51
R4751:Trdmt1 UTSW 2 13,549,464 (GRCm39) utr 5 prime probably benign
R6258:Trdmt1 UTSW 2 13,524,870 (GRCm39) missense probably benign 0.01
R6260:Trdmt1 UTSW 2 13,524,870 (GRCm39) missense probably benign 0.01
R6799:Trdmt1 UTSW 2 13,520,824 (GRCm39) critical splice donor site probably null
R7329:Trdmt1 UTSW 2 13,520,933 (GRCm39) missense probably damaging 1.00
R8126:Trdmt1 UTSW 2 13,524,816 (GRCm39) missense probably benign 0.39
R8941:Trdmt1 UTSW 2 13,526,918 (GRCm39) missense probably benign 0.03
Posted On 2013-06-21