Incidental Mutation 'R7329:Trdmt1'
ID 569083
Institutional Source Beutler Lab
Gene Symbol Trdmt1
Ensembl Gene ENSMUSG00000026723
Gene Name tRNA aspartic acid methyltransferase 1
Synonyms Rnmt2, Dnmt2
MMRRC Submission 045422-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # R7329 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 13513825-13549479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13520933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 323 (L323P)
Ref Sequence ENSEMBL: ENSMUSP00000114572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124488]
AlphaFold O55055
Predicted Effect probably damaging
Transcript: ENSMUST00000124488
AA Change: L323P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114572
Gene: ENSMUSG00000026723
AA Change: L323P

DomainStartEndE-ValueType
Pfam:DNA_methylase 4 391 1.6e-45 PFAM
Meta Mutation Damage Score 0.6403 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (78/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actb T C 5: 142,890,146 (GRCm39) N252S probably benign Het
Adgrb1 C A 15: 74,411,094 (GRCm39) T330K probably damaging Het
Ahnak A G 19: 8,979,156 (GRCm39) T147A probably damaging Het
Ankfy1 T C 11: 72,603,034 (GRCm39) V21A probably damaging Het
Arrdc4 T A 7: 68,390,775 (GRCm39) N322Y probably damaging Het
Bfsp2 C A 9: 103,327,121 (GRCm39) E205D probably benign Het
C2cd4b T A 9: 67,667,419 (GRCm39) S138R possibly damaging Het
Camkk1 C G 11: 72,917,873 (GRCm39) N147K probably damaging Het
Ckap2l T A 2: 129,127,284 (GRCm39) Q298L possibly damaging Het
Clstn2 G T 9: 97,343,422 (GRCm39) A675D probably benign Het
Cntnap2 G A 6: 47,248,205 (GRCm39) V1204M possibly damaging Het
Col4a1 C T 8: 11,276,494 (GRCm39) probably null Het
Ctrc T C 4: 141,571,022 (GRCm39) T73A probably benign Het
Cubn A G 2: 13,473,582 (GRCm39) F454L probably damaging Het
Cuedc1 A T 11: 88,060,692 (GRCm39) S12C unknown Het
Cyb561a3 G T 19: 10,565,268 (GRCm39) G211C probably damaging Het
D5Ertd579e A T 5: 36,773,739 (GRCm39) S219T probably benign Het
Dennd4c T A 4: 86,759,318 (GRCm39) Y1783N probably damaging Het
Dennd4c C T 4: 86,698,111 (GRCm39) P200S possibly damaging Het
Dnah6 G A 6: 73,121,705 (GRCm39) Q1426* probably null Het
Dync2h1 T G 9: 7,011,247 (GRCm39) T3649P probably benign Het
E2f8 T C 7: 48,521,858 (GRCm39) S415G probably damaging Het
Fbxo22 A G 9: 55,122,261 (GRCm39) I147V probably benign Het
Gclc A G 9: 77,683,473 (GRCm39) Y110C probably damaging Het
Gstm5 A G 3: 107,803,647 (GRCm39) T27A possibly damaging Het
Heatr4 A G 12: 84,024,856 (GRCm39) S322P probably benign Het
Htt T A 5: 34,987,099 (GRCm39) I1106N probably benign Het
Hunk T C 16: 90,183,570 (GRCm39) V76A probably benign Het
Igkv12-98 C T 6: 68,548,087 (GRCm39) T72I possibly damaging Het
Igkv9-123 A T 6: 67,931,629 (GRCm39) W16R possibly damaging Het
Ipo7 T C 7: 109,648,224 (GRCm39) L674S possibly damaging Het
Kcnh6 T C 11: 105,908,203 (GRCm39) F273S probably benign Het
Lamb3 C A 1: 193,002,848 (GRCm39) Q98K possibly damaging Het
Lingo4 A T 3: 94,310,162 (GRCm39) T367S probably benign Het
Lypd6b A T 2: 49,832,512 (GRCm39) I26F probably benign Het
Maneal T C 4: 124,750,512 (GRCm39) T415A probably benign Het
Mapk1ip1l A G 14: 47,547,920 (GRCm39) T23A unknown Het
Mrps17 T A 5: 129,793,705 (GRCm39) probably benign Het
Mup13 T G 4: 61,183,688 (GRCm39) D45A probably damaging Het
Mycbpap T A 11: 94,400,073 (GRCm39) D408V probably damaging Het
Myh10 A G 11: 68,701,017 (GRCm39) H1742R probably benign Het
Mylk4 A G 13: 32,900,766 (GRCm39) Y255H probably damaging Het
Nbeal1 A G 1: 60,256,355 (GRCm39) Q200R probably benign Het
Nkain2 TTTACTCGTT TTT 10: 32,765,892 (GRCm39) probably null Het
Olfm4 T C 14: 80,249,369 (GRCm39) V162A possibly damaging Het
Or1j15 A G 2: 36,458,708 (GRCm39) T33A probably benign Het
Or51a8 T C 7: 102,550,039 (GRCm39) L155P probably damaging Het
Or5w8 T C 2: 87,687,585 (GRCm39) V22A probably benign Het
Or8c11 C A 9: 38,289,456 (GRCm39) T87K probably benign Het
Ovol3 T A 7: 29,934,677 (GRCm39) R43S probably benign Het
Pcbp1 A G 6: 86,502,098 (GRCm39) V267A probably benign Het
Phf20 T A 2: 156,146,552 (GRCm39) V903E probably damaging Het
Pi4k2b T G 5: 52,914,211 (GRCm39) S316A probably benign Het
Pira1 G A 7: 3,742,875 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,617,743 (GRCm39) H947Q probably damaging Het
Ppip5k2 A C 1: 97,678,478 (GRCm39) probably null Het
Prkca T A 11: 107,905,103 (GRCm39) T212S possibly damaging Het
Psg16 A T 7: 16,824,611 (GRCm39) I41F possibly damaging Het
Rae1 T A 2: 172,851,238 (GRCm39) F204I probably benign Het
Rasef T A 4: 73,662,374 (GRCm39) N192I probably damaging Het
Rfc1 T A 5: 65,420,478 (GRCm39) R1122S unknown Het
Rfx2 A T 17: 57,110,681 (GRCm39) S102T probably benign Het
Sez6l A G 5: 112,588,773 (GRCm39) Y647H probably damaging Het
Siglecf A G 7: 43,001,395 (GRCm39) Y121C probably damaging Het
Slc27a5 T C 7: 12,725,089 (GRCm39) T453A possibly damaging Het
Slc44a2 G A 9: 21,254,048 (GRCm39) R171Q probably damaging Het
Slc4a9 A C 18: 36,673,874 (GRCm39) E889A possibly damaging Het
Snx31 C A 15: 36,555,621 (GRCm39) R13L probably benign Het
Spag6l A T 16: 16,584,883 (GRCm39) Y422N probably benign Het
Spmip5 T C 19: 58,777,654 (GRCm39) E52G probably damaging Het
Sulf2 T C 2: 165,959,008 (GRCm39) T67A probably damaging Het
Syne2 G A 12: 76,013,758 (GRCm39) R2983Q probably benign Het
Tmtc3 A G 10: 100,283,281 (GRCm39) I758T probably benign Het
Top2a T A 11: 98,895,072 (GRCm39) I843L possibly damaging Het
Tph1 T C 7: 46,306,285 (GRCm39) probably null Het
Ush2a A T 1: 188,285,395 (GRCm39) E1977V probably damaging Het
Utp4 A G 8: 107,640,095 (GRCm39) E468G probably benign Het
Uts2r A G 11: 121,051,558 (GRCm39) T141A possibly damaging Het
Vmn1r230 A G 17: 21,066,952 (GRCm39) Y47C 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
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
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'- AGGGCAGCAGGGATTCATTC -3'
(R):5'- CTGGTGTCATTATCCAGCCAATTATAC -3'

Sequencing Primer
(F):5'- TCATACAATGCCCGTGTGAG -3'
(R):5'- CCAGCCAATTATACAATTGTTGCAC -3'
Posted On 2019-09-13