Incidental Mutation 'IGL00539:Trmt5'
ID 5980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt5
Ensembl Gene ENSMUSG00000034442
Gene Name TRM5 tRNA methyltransferase 5
Synonyms 2610027O18Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL00539
Quality Score
Status
Chromosome 12
Chromosomal Location 73326785-73333484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73331693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 121 (E121G)
Ref Sequence ENSEMBL: ENSMUSP00000112121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058139] [ENSMUST00000101313] [ENSMUST00000116420] [ENSMUST00000122920] [ENSMUST00000126488] [ENSMUST00000140523] [ENSMUST00000153941] [ENSMUST00000221189] [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 benign
Transcript: ENSMUST00000101313
SMART Domains Protein: ENSMUSP00000098871
Gene: ENSMUSG00000044712

DomainStartEndE-ValueType
Pfam:Aa_trans 1 69 4.3e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000116420
AA Change: E121G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: E121G

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 possibly damaging
Transcript: ENSMUST00000221189
AA Change: E69G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000220701
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C A 19: 8,985,272 (GRCm39) D2185E possibly damaging Het
Camk2b A G 11: 5,922,310 (GRCm39) S560P probably damaging Het
Cdh13 C A 8: 120,039,245 (GRCm39) N562K possibly damaging Het
Cdhr4 A G 9: 107,876,744 (GRCm39) Y771C probably damaging Het
Ermap A G 4: 119,041,114 (GRCm39) S299P probably damaging Het
Fgd3 A G 13: 49,429,119 (GRCm39) probably benign Het
Fpr-rs4 T A 17: 18,242,188 (GRCm39) L65Q probably damaging Het
Hsph1 C T 5: 149,542,254 (GRCm39) R723H possibly damaging Het
Iqcb1 A G 16: 36,678,873 (GRCm39) K396E probably damaging Het
Kif21a T C 15: 90,821,504 (GRCm39) T1424A probably damaging Het
Mpdz T C 4: 81,279,588 (GRCm39) S700G possibly damaging Het
Mta3 G A 17: 84,070,412 (GRCm39) R39Q probably benign Het
Muc4 A T 16: 32,569,728 (GRCm39) T263S possibly damaging Het
Ncan G A 8: 70,567,921 (GRCm39) P64S probably benign Het
Pisd T C 5: 32,895,756 (GRCm39) I441V probably benign Het
Pla2g4f T C 2: 120,133,219 (GRCm39) H660R possibly damaging Het
Polq A G 16: 36,880,931 (GRCm39) T753A probably damaging Het
Ptchd4 C T 17: 42,627,817 (GRCm39) Q93* probably null Het
Sfpq T C 4: 126,917,481 (GRCm39) V437A possibly damaging Het
Slc18b1 G A 10: 23,700,659 (GRCm39) probably null Het
Taf1c C T 8: 120,328,067 (GRCm39) V277I possibly damaging Het
Tcf20 T A 15: 82,736,957 (GRCm39) Q1498L probably benign Het
Tet1 C A 10: 62,650,276 (GRCm39) C1644F probably damaging Het
Wapl A G 14: 34,416,965 (GRCm39) D525G probably damaging Het
Ylpm1 A G 12: 85,075,728 (GRCm39) T360A possibly damaging Het
Zfp292 G A 4: 34,808,790 (GRCm39) P1418L probably damaging Het
Other mutations in Trmt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9237:Trmt5 UTSW 12 73,331,568 (GRCm39) missense probably benign
R9277:Trmt5 UTSW 12 73,329,448 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20