Incidental Mutation 'R9237:Trmt5'
ID 700549
Institutional Source Beutler Lab
Gene Symbol Trmt5
Ensembl Gene ENSMUSG00000034442
Gene Name TRM5 tRNA methyltransferase 5
Synonyms 2610027O18Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R9237 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 73326785-73333484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 73331568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 163 (Q163K)
Ref Sequence ENSEMBL: ENSMUSP00000112121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058139] [ENSMUST00000101313] [ENSMUST00000116420] [ENSMUST00000122920] [ENSMUST00000126488] [ENSMUST00000140523] [ENSMUST00000153941] [ENSMUST00000220701] [ENSMUST00000221189]
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 benign
Transcript: ENSMUST00000101313
SMART Domains Protein: ENSMUSP00000098871
Gene: ENSMUSG00000044712

DomainStartEndE-ValueType
Pfam:Aa_trans 1 69 4.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116420
AA Change: Q163K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: Q163K

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

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

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

DomainStartEndE-ValueType
Pfam:Aa_trans 44 452 2.5e-77 PFAM
Predicted Effect probably benign
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
Predicted Effect probably benign
Transcript: ENSMUST00000221189
AA Change: Q111K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,318,557 (GRCm39) N1815K probably damaging Het
Acat1 C A 9: 53,494,816 (GRCm39) A359S probably damaging Het
Actn1 T C 12: 80,240,470 (GRCm39) N206D possibly damaging Het
Adgrf4 T A 17: 42,980,782 (GRCm39) H101L probably benign Het
Ager T A 17: 34,816,869 (GRCm39) M1K probably null Het
Akap12 T C 10: 4,307,231 (GRCm39) I1452T probably benign Het
Arap3 G A 18: 38,112,934 (GRCm39) A1092V possibly damaging Het
Bnip5 T C 17: 29,123,522 (GRCm39) E392G probably benign Het
C8b A G 4: 104,650,481 (GRCm39) T430A probably benign Het
Dars2 G A 1: 160,873,025 (GRCm39) R455W probably damaging Het
Erbb4 T G 1: 68,081,601 (GRCm39) Q1144H possibly damaging Het
Exoc2 G A 13: 31,048,858 (GRCm39) H732Y probably benign Het
Fhad1 T A 4: 141,632,483 (GRCm39) M1219L probably benign Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gna15 T C 10: 81,359,683 (GRCm39) K36E possibly damaging Het
Gpr156 C T 16: 37,825,648 (GRCm39) Q622* probably null Het
Grip1 C T 10: 119,911,310 (GRCm39) S1091L probably benign Het
H4c12 A G 13: 21,934,534 (GRCm39) S48P probably damaging Het
Helt A G 8: 46,745,536 (GRCm39) F154L probably benign Het
Ide T C 19: 37,307,898 (GRCm39) N38S Het
Ighg2b A T 12: 113,270,217 (GRCm39) V267E Het
Map3k10 C T 7: 27,357,842 (GRCm39) W645* probably null Het
Mcrip1 G A 11: 120,435,542 (GRCm39) P31L probably damaging Het
Mttp T C 3: 137,810,444 (GRCm39) E657G probably benign Het
Myom1 C T 17: 71,408,051 (GRCm39) T1195I probably damaging Het
Myom2 T C 8: 15,152,591 (GRCm39) V646A possibly damaging Het
Nlrc3 A T 16: 3,783,073 (GRCm39) M128K probably benign Het
Nr2f6 A C 8: 71,831,073 (GRCm39) C112W probably damaging Het
Or5af1 A T 11: 58,722,057 (GRCm39) I26F possibly damaging Het
Or5m13b T A 2: 85,754,267 (GRCm39) Y218* probably null Het
P2rx3 T C 2: 84,853,896 (GRCm39) N139S probably benign Het
Pcdha11 T A 18: 37,145,260 (GRCm39) N450K probably damaging Het
Phb1 T C 11: 95,566,034 (GRCm39) I106T possibly damaging Het
Phyhipl C A 10: 70,406,720 (GRCm39) R78L possibly damaging Het
Pmfbp1 A G 8: 110,246,932 (GRCm39) D268G probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Rcbtb2 C A 14: 73,411,936 (GRCm39) H408Q probably damaging Het
Sptbn1 A T 11: 30,096,803 (GRCm39) V271E probably damaging Het
Sptlc3 T A 2: 139,408,605 (GRCm39) V240E probably benign Het
Stat4 A G 1: 52,146,073 (GRCm39) N742S probably benign Het
Tas2r118 T A 6: 23,969,617 (GRCm39) Y148F probably benign Het
Ube2d1 T A 10: 71,097,925 (GRCm39) I37F probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vps13b C T 15: 35,841,479 (GRCm39) P2503L probably damaging 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
R2068:Trmt5 UTSW 12 73,331,444 (GRCm39) splice site probably null
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
R9277:Trmt5 UTSW 12 73,329,448 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATCTGACTGTAATCCACCTACC -3'
(R):5'- TGTCCATCCCTGTGCTTAAAGC -3'

Sequencing Primer
(F):5'- CCTACCAATTAAATGCTTGAAGGGC -3'
(R):5'- GTCAACAGATTGATGCGAGCCC -3'
Posted On 2022-02-07