Incidental Mutation 'R0060:Trmt6'
ID17246
Institutional Source Beutler Lab
Gene Symbol Trmt6
Ensembl Gene ENSMUSG00000037376
Gene NametRNA methyltransferase 6
Synonyms3300001M20Rik
MMRRC Submission 038353-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.937) question?
Stock #R0060 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location132804207-132816055 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 132806769 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 415 (R415Q)
Ref Sequence ENSEMBL: ENSMUSP00000044687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039554]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039554
AA Change: R415Q

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044687
Gene: ENSMUSG00000037376
AA Change: R415Q

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Gcd10p 20 302 7.2e-74 PFAM
coiled coil region 345 364 N/A INTRINSIC
low complexity region 444 456 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152836
Meta Mutation Damage Score 0.1780 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 88.3%
  • 10x: 83.8%
  • 20x: 78.1%
Validation Efficiency 94% (74/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810011H11Rik C A 14: 32,806,769 probably benign Het
1810065E05Rik A C 11: 58,422,182 probably benign Het
4930432E11Rik A G 7: 29,574,170 noncoding transcript Het
A630091E08Rik A G 7: 98,543,668 noncoding transcript Het
Abca8a T C 11: 110,070,480 T539A probably damaging Het
Adam34 A T 8: 43,675,883 probably benign Het
Ankrd60 A T 2: 173,572,613 M1K probably null Het
Cald1 T C 6: 34,715,459 probably benign Het
Capn7 T C 14: 31,365,604 probably benign Het
Cd109 G A 9: 78,703,107 E1145K probably damaging Het
Celsr1 A T 15: 85,922,198 V2353D probably damaging Het
Cep135 A T 5: 76,621,350 I616F probably benign Het
Cep162 T A 9: 87,237,825 probably benign Het
Cep350 C T 1: 155,928,626 D904N probably damaging Het
Cep85 T C 4: 134,167,300 D65G probably damaging Het
Cfdp1 T C 8: 111,840,354 probably benign Het
Chl1 T A 6: 103,711,058 probably benign Het
Colec10 G A 15: 54,439,146 probably benign Het
Crxos A G 7: 15,898,523 T40A possibly damaging Het
Dnhd1 A G 7: 105,668,514 D472G probably damaging Het
Dpp6 C A 5: 27,598,819 N254K probably damaging Het
Eps8l3 T C 3: 107,879,541 L11S probably damaging Het
Flad1 G A 3: 89,402,245 R515* probably null Het
Fzd5 T C 1: 64,735,676 T309A probably benign Het
Gm19685 T C 17: 60,768,423 Het
Gsdme A G 6: 50,221,029 I317T possibly damaging Het
Hist1h2ba A T 13: 23,933,945 I71N possibly damaging Het
Incenp A G 19: 9,885,459 probably benign Het
Itgad T C 7: 128,202,986 S979P probably damaging Het
Kat2b T C 17: 53,654,543 V557A probably damaging Het
Lamc1 A T 1: 153,241,868 probably benign Het
Lgi4 G A 7: 31,063,571 G157D probably damaging Het
Mga T C 2: 119,960,961 probably null Het
Nubpl T C 12: 52,310,687 probably benign Het
Olfr1105 T C 2: 87,033,774 Y149C probably damaging Het
Olfr124 T C 17: 37,806,000 L285P probably damaging Het
Olfr898 C T 9: 38,349,512 S143F probably benign Het
Peak1 A T 9: 56,227,823 I78K probably damaging Het
Prune2 T A 19: 17,003,733 F85I probably damaging Het
Rbm11 G T 16: 75,598,779 D113Y probably damaging Het
Rif1 C T 2: 52,111,117 R1528C probably damaging Het
Sema4d A G 13: 51,705,257 probably benign Het
Slc30a4 T A 2: 122,685,184 T381S probably benign Het
Slf2 G T 19: 44,948,004 G696V probably damaging Het
Suv39h2 T C 2: 3,464,916 Y134C probably damaging Het
Tmem89 T A 9: 108,915,417 V126D probably damaging Het
Trf T C 9: 103,220,922 T46A probably benign Het
Trp53bp1 T C 2: 121,204,525 K1625E probably damaging Het
Usp6nl T A 2: 6,440,890 D559E probably benign Het
Wdr75 A G 1: 45,816,617 D476G probably benign Het
Wrap53 A C 11: 69,563,430 L261V possibly damaging Het
Zcchc4 T A 5: 52,807,078 I292N possibly damaging Het
Other mutations in Trmt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Trmt6 APN 2 132805458 missense probably benign 0.01
IGL02604:Trmt6 APN 2 132810437 nonsense probably null
IGL03216:Trmt6 APN 2 132808698 missense probably null
IGL03231:Trmt6 APN 2 132815836 missense probably benign 0.01
R0060:Trmt6 UTSW 2 132806769 missense possibly damaging 0.84
R0086:Trmt6 UTSW 2 132809017 critical splice acceptor site probably benign
R0485:Trmt6 UTSW 2 132809030 splice site probably benign
R0827:Trmt6 UTSW 2 132815834 missense probably damaging 1.00
R1654:Trmt6 UTSW 2 132815835 missense possibly damaging 0.92
R1757:Trmt6 UTSW 2 132810237 missense probably damaging 0.96
R1974:Trmt6 UTSW 2 132811048 missense probably damaging 1.00
R2008:Trmt6 UTSW 2 132806909 nonsense probably null
R2310:Trmt6 UTSW 2 132808912 missense probably damaging 1.00
R4989:Trmt6 UTSW 2 132808271 missense possibly damaging 0.58
R5288:Trmt6 UTSW 2 132808783 missense probably benign 0.03
R5385:Trmt6 UTSW 2 132808783 missense probably benign 0.03
R5386:Trmt6 UTSW 2 132808783 missense probably benign 0.03
R6546:Trmt6 UTSW 2 132812153 missense probably benign 0.16
R6815:Trmt6 UTSW 2 132809858 missense probably damaging 1.00
R8016:Trmt6 UTSW 2 132809906 missense probably damaging 1.00
Posted On2013-01-20