Incidental Mutation 'R2068:Trmt5'
ID 226867
Institutional Source Beutler Lab
Gene Symbol Trmt5
Ensembl Gene ENSMUSG00000034442
Gene Name TRM5 tRNA methyltransferase 5
Synonyms 2610027O18Rik
MMRRC Submission 040073-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R2068 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 73326785-73333484 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 73331444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058139] [ENSMUST00000101313] [ENSMUST00000116420] [ENSMUST00000122920] [ENSMUST00000126488] [ENSMUST00000140523] [ENSMUST00000221189] [ENSMUST00000153941] [ENSMUST00000220701]
AlphaFold Q9D0C4
Predicted Effect probably benign
Transcript: ENSMUST00000058139
SMART Domains Protein: ENSMUSP00000057153
Gene: ENSMUSG00000044712

DomainStartEndE-ValueType
Pfam:Aa_trans 44 122 9.5e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000101313
SMART Domains Protein: ENSMUSP00000098871
Gene: ENSMUSG00000044712

DomainStartEndE-ValueType
Pfam:Aa_trans 1 69 4.3e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116420
AA Change: L204H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: L204H

DomainStartEndE-ValueType
Pfam:Met_10 191 412 4.5e-65 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000122920
SMART Domains Protein: ENSMUSP00000124386
Gene: ENSMUSG00000044712

DomainStartEndE-ValueType
Pfam:Aa_trans 44 113 3.5e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000126488
SMART Domains Protein: ENSMUSP00000118374
Gene: ENSMUSG00000044712

DomainStartEndE-ValueType
Pfam:Aa_trans 44 122 9.5e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000140523
SMART Domains Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712

DomainStartEndE-ValueType
Pfam:Aa_trans 44 452 2.5e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221189
Predicted Effect probably null
Transcript: ENSMUST00000153941
SMART Domains Protein: ENSMUSP00000114870
Gene: ENSMUSG00000044712

DomainStartEndE-ValueType
Pfam:Aa_trans 44 124 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220701
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
Abcb5 A T 12: 118,904,303 (GRCm39) C162* probably null Het
Akr1c19 A T 13: 4,288,391 (GRCm39) probably null Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Bsn T G 9: 107,987,883 (GRCm39) probably benign Het
Bsn T A 9: 108,003,749 (GRCm39) M219L possibly damaging Het
Btnl9 T C 11: 49,060,390 (GRCm39) T453A probably damaging Het
C6 G T 15: 4,820,552 (GRCm39) C521F probably damaging Het
Ccnt1 A T 15: 98,449,823 (GRCm39) H156Q probably benign Het
Cdh20 A T 1: 110,065,666 (GRCm39) R647* probably null Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Cmya5 T A 13: 93,227,032 (GRCm39) K2685N possibly damaging Het
Cnksr2 A C X: 156,728,302 (GRCm39) S224R possibly damaging Het
Cntn1 T C 15: 92,215,943 (GRCm39) V992A possibly damaging Het
Dapk1 G A 13: 60,899,022 (GRCm39) D831N probably damaging Het
Dnaaf3 T C 7: 4,526,798 (GRCm39) I426M possibly damaging Het
Dnah6 A G 6: 72,998,165 (GRCm39) Y4034H probably benign Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Eps8 A T 6: 137,499,172 (GRCm39) W239R probably benign Het
Fance T C 17: 28,539,799 (GRCm39) F83S possibly damaging Het
Fn1 A G 1: 71,639,598 (GRCm39) V1731A probably damaging Het
Gak G T 5: 108,718,091 (GRCm39) T1244K probably benign Het
Gas8 T A 8: 124,253,276 (GRCm39) I208N probably damaging Het
Gm9830 A T 9: 44,375,579 (GRCm39) noncoding transcript Het
Gm9837 T A 11: 53,361,092 (GRCm39) probably benign Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Hdac3 C A 18: 38,076,569 (GRCm39) G257V probably damaging Het
Heg1 A G 16: 33,547,960 (GRCm39) T916A probably benign Het
Herc2 G T 7: 55,782,245 (GRCm39) G1311C probably damaging Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Itm2b T C 14: 73,600,575 (GRCm39) K242E probably damaging Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Klrg2 G A 6: 38,613,928 (GRCm39) T25I probably benign Het
Lcn5 G A 2: 25,548,053 (GRCm39) V21M probably damaging Het
Liat1 T C 11: 75,891,077 (GRCm39) S64P possibly damaging Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Lrrn3 A T 12: 41,502,995 (GRCm39) S441T probably damaging Het
Mpdz G A 4: 81,254,067 (GRCm39) R1W probably null Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mpzl2 G A 9: 44,955,169 (GRCm39) probably null Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Notch3 A G 17: 32,354,482 (GRCm39) C1748R probably benign Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Oasl2 A C 5: 115,049,298 (GRCm39) D466A probably benign Het
Opa3 T C 7: 18,978,739 (GRCm39) I68T possibly damaging Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or2ag1 T A 7: 106,313,373 (GRCm39) R172W probably benign Het
Or2d3c T G 7: 106,526,162 (GRCm39) Y168S probably damaging Het
Or5p63 T C 7: 107,811,547 (GRCm39) Y63C probably damaging Het
Or8g37 T C 9: 39,731,846 (GRCm39) F304L probably benign Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pdzrn3 T C 6: 101,127,660 (GRCm39) E1002G probably damaging Het
Pik3c2a A T 7: 115,972,126 (GRCm39) L768* probably null Het
Plxna4 A G 6: 32,494,551 (GRCm39) S22P possibly damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Pramel11 T C 4: 143,623,482 (GRCm39) M231V probably damaging Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Pum1 A G 4: 130,501,745 (GRCm39) T845A probably benign Het
Rad21l T C 2: 151,509,927 (GRCm39) H58R probably damaging Het
Rgma A C 7: 73,059,379 (GRCm39) D161A probably damaging Het
Scai T C 2: 39,013,025 (GRCm39) Y135C probably damaging Het
Scn2a T A 2: 65,582,417 (GRCm39) H1588Q probably benign Het
Sdha A T 13: 74,472,087 (GRCm39) probably null Het
Slc12a3 A G 8: 95,072,456 (GRCm39) D658G probably damaging Het
Slc5a3 A G 16: 91,874,128 (GRCm39) S62G probably damaging Het
Spata13 GTTAGGCT GT 14: 60,998,320 (GRCm39) probably benign Het
Sulf1 A G 1: 12,910,627 (GRCm39) I649V probably damaging Het
Thbs1 C T 2: 117,954,018 (GRCm39) Q1090* probably null Het
Tjp2 C A 19: 24,099,687 (GRCm39) R400L probably benign Het
Tle4 A T 19: 14,427,113 (GRCm39) Y769* probably null Het
Troap T C 15: 98,980,344 (GRCm39) L508P probably benign Het
Ubac2 T A 14: 122,145,691 (GRCm39) Y116* probably null Het
Ugt2b36 T C 5: 87,240,100 (GRCm39) E95G probably benign Het
Ush1c T C 7: 45,878,905 (GRCm39) Y74C probably damaging Het
Usp36 T C 11: 118,165,844 (GRCm39) T160A possibly damaging Het
Usp54 G T 14: 20,627,273 (GRCm39) P462T probably damaging Het
Vmn1r55 A G 7: 5,150,048 (GRCm39) V125A possibly damaging Het
Vps11 A G 9: 44,269,613 (GRCm39) S213P probably damaging Het
Zfp668 C T 7: 127,465,837 (GRCm39) G449D probably benign Het
Other mutations in Trmt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Trmt5 APN 12 73,331,693 (GRCm39) missense possibly damaging 0.80
IGL01468:Trmt5 APN 12 73,327,878 (GRCm39) missense probably benign 0.08
IGL01681:Trmt5 APN 12 73,329,377 (GRCm39) unclassified probably benign
IGL02502:Trmt5 APN 12 73,328,001 (GRCm39) missense probably benign 0.06
IGL02627:Trmt5 APN 12 73,328,229 (GRCm39) missense probably damaging 1.00
IGL02688:Trmt5 APN 12 73,328,232 (GRCm39) nonsense probably null
IGL03390:Trmt5 APN 12 73,329,501 (GRCm39) missense probably benign 0.30
IGL03391:Trmt5 APN 12 73,328,226 (GRCm39) missense probably benign 0.00
R2239:Trmt5 UTSW 12 73,331,888 (GRCm39) missense probably benign 0.00
R2380:Trmt5 UTSW 12 73,331,888 (GRCm39) missense probably benign 0.00
R5169:Trmt5 UTSW 12 73,329,495 (GRCm39) missense probably damaging 1.00
R5578:Trmt5 UTSW 12 73,331,837 (GRCm39) splice site probably null
R5579:Trmt5 UTSW 12 73,328,426 (GRCm39) missense possibly damaging 0.92
R7390:Trmt5 UTSW 12 73,328,394 (GRCm39) missense probably damaging 1.00
R7991:Trmt5 UTSW 12 73,329,439 (GRCm39) missense probably damaging 1.00
R9001:Trmt5 UTSW 12 73,331,643 (GRCm39) missense probably benign 0.00
R9065:Trmt5 UTSW 12 73,328,038 (GRCm39) missense probably damaging 1.00
R9237:Trmt5 UTSW 12 73,331,568 (GRCm39) missense probably benign
R9277:Trmt5 UTSW 12 73,329,448 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGGCCCAAAAGTCTCTGCC -3'
(R):5'- CCTTTGACAAAGCAGAACTCGG -3'

Sequencing Primer
(F):5'- TTTTCAAAAAGGGGGAAGGTGCTTC -3'
(R):5'- GCAGAACTCGGAGTTTTAAAAGAAC -3'
Posted On 2014-09-17