Incidental Mutation 'R0167:Trdmt1'
ID 24204
Institutional Source Beutler Lab
Gene Symbol Trdmt1
Ensembl Gene ENSMUSG00000026723
Gene Name tRNA aspartic acid methyltransferase 1
Synonyms Rnmt2, Dnmt2
MMRRC Submission 038443-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # R0167 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 13513825-13549479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13520829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 358 (F358I)
Ref Sequence ENSEMBL: ENSMUSP00000114572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124488]
AlphaFold O55055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028055
Predicted Effect probably damaging
Transcript: ENSMUST00000124488
AA Change: F358I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114572
Gene: ENSMUSG00000026723
AA Change: F358I

DomainStartEndE-ValueType
Pfam:DNA_methylase 4 391 1.6e-45 PFAM
Meta Mutation Damage Score 0.8096 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (58/61)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,806,969 (GRCm39) F431L probably damaging Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Bltp3a C T 17: 28,099,176 (GRCm39) T246M possibly damaging Het
Bsn T C 9: 108,003,185 (GRCm39) T407A probably benign Het
Ccdc96 T C 5: 36,642,497 (GRCm39) F168L probably benign Het
Cckar A T 5: 53,863,795 (GRCm39) S55R probably damaging Het
Cdh5 A C 8: 104,863,367 (GRCm39) I426L possibly damaging Het
Clcn1 T C 6: 42,263,770 (GRCm39) Y24H probably damaging Het
Clpx G A 9: 65,224,019 (GRCm39) R271K possibly damaging Het
Col6a3 C T 1: 90,725,895 (GRCm39) G1978D probably damaging Het
Cpne2 T C 8: 95,295,207 (GRCm39) probably benign Het
D630023F18Rik A G 1: 65,156,340 (GRCm39) V51A possibly damaging Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dlk2 C A 17: 46,613,530 (GRCm39) R262S possibly damaging Het
Dubr G T 16: 50,553,007 (GRCm39) noncoding transcript Het
Elane T A 10: 79,722,933 (GRCm39) probably null Het
Eya2 T G 2: 165,558,032 (GRCm39) S209R possibly damaging Het
Fam171a1 C T 2: 3,187,469 (GRCm39) S112L probably damaging Het
Fsip2 T A 2: 82,811,151 (GRCm39) M2490K possibly damaging Het
Galnt14 T C 17: 73,829,715 (GRCm39) T277A probably damaging Het
Golga1 T C 2: 38,937,660 (GRCm39) N128S probably benign Het
H1f6 T C 13: 23,879,886 (GRCm39) V13A probably benign Het
Hdac2 T C 10: 36,876,368 (GRCm39) V461A probably benign Het
Hey2 A G 10: 30,716,661 (GRCm39) V34A probably benign Het
Ift22 T C 5: 136,940,745 (GRCm39) C137R probably benign Het
Lrp2 T C 2: 69,256,002 (GRCm39) D4657G possibly damaging Het
Lrrn3 T A 12: 41,504,014 (GRCm39) Q101L probably damaging Het
Med25 A G 7: 44,532,521 (GRCm39) probably null Het
Mup5 T A 4: 61,752,019 (GRCm39) probably null Het
Or51aa5 A T 7: 103,166,708 (GRCm39) Y294* probably null Het
Or5ac23 A T 16: 59,149,337 (GRCm39) C178* probably null Het
Or9q2 T C 19: 13,772,931 (GRCm39) T15A probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Parg T C 14: 31,939,693 (GRCm39) probably null Het
Prep A G 10: 45,034,326 (GRCm39) probably null Het
Prss1l T A 6: 41,373,195 (GRCm39) probably benign Het
Psip1 T C 4: 83,385,055 (GRCm39) probably null Het
Rbbp8 T A 18: 11,793,979 (GRCm39) Y30* probably null Het
Rhbdd1 T C 1: 82,320,505 (GRCm39) V163A probably benign Het
Setd2 T A 9: 110,402,850 (GRCm39) N1830K probably damaging Het
Shc4 T G 2: 125,564,933 (GRCm39) N122T probably benign Het
Shroom3 T C 5: 93,096,254 (GRCm39) probably benign Het
Snx14 A T 9: 88,289,469 (GRCm39) L261Q probably damaging Het
St8sia1 A G 6: 142,859,907 (GRCm39) probably benign Het
Thbs2 A T 17: 14,887,787 (GRCm39) probably benign Het
Tpp2 T C 1: 44,009,648 (GRCm39) V494A probably benign Het
Ttn T A 2: 76,719,867 (GRCm39) probably benign Het
Uggt1 A G 1: 36,209,278 (GRCm39) probably null Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vstm2a T A 11: 16,208,044 (GRCm39) F13I probably damaging Het
Zfp804a T G 2: 82,086,860 (GRCm39) F230V probably damaging Het
Other mutations in Trdmt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Trdmt1 APN 2 13,526,071 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACCCCAGTCTAGTGTGGAGTTACC -3'
(R):5'- TGCGGCACTACAGATGCTTCTC -3'

Sequencing Primer
(F):5'- TCAACCATCTGAGGCAGTTAG -3'
(R):5'- ACAACTGGCAATCTTGTCTGG -3'
Posted On 2013-04-16