Incidental Mutation 'IGL03390:Trmt5'
ID 421019
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 # IGL03390
Quality Score
Status
Chromosome 12
Chromosomal Location 73326785-73333484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73329501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 219 (M219K)
Ref Sequence ENSEMBL: ENSMUSP00000112121 (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 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: M219K

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: M219K

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: ENSMUST00000221189
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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik A G 8: 125,566,564 (GRCm39) probably benign Het
Ccdc18 A G 5: 108,359,997 (GRCm39) Y1127C probably damaging Het
Cdnf T A 2: 3,524,863 (GRCm39) L134* probably null Het
Col11a1 A G 3: 113,883,902 (GRCm39) D257G unknown Het
Cthrc1 T A 15: 38,940,529 (GRCm39) I44N probably benign Het
Dlec1 T C 9: 118,952,288 (GRCm39) Y545H probably benign Het
Drosha T G 15: 12,885,069 (GRCm39) probably null Het
Ebf2 A G 14: 67,661,558 (GRCm39) N562S probably benign Het
Fem1b G A 9: 62,704,246 (GRCm39) A338V probably benign Het
Gga3 A T 11: 115,477,820 (GRCm39) probably null Het
Gm7247 A T 14: 51,760,914 (GRCm39) H161L probably benign Het
Gm7367 A G 7: 59,805,517 (GRCm39) noncoding transcript Het
Inpp5a T G 7: 139,105,664 (GRCm39) V213G probably benign Het
Kcns3 T C 12: 11,141,233 (GRCm39) T489A probably benign Het
Kifc3 G A 8: 95,835,241 (GRCm39) A211V probably damaging Het
Krt71 T C 15: 101,642,987 (GRCm39) D507G possibly damaging Het
Lama5 T C 2: 179,849,011 (GRCm39) Y224C probably damaging Het
Lrrc37a A G 11: 103,386,857 (GRCm39) L2421P unknown Het
Mtch2 C T 2: 90,689,894 (GRCm39) T205I probably benign Het
Or1o11 T C 17: 37,757,255 (GRCm39) V281A probably benign Het
Prkdc T A 16: 15,488,490 (GRCm39) C537* probably null Het
Prl2a1 T C 13: 27,985,699 (GRCm39) V5A probably benign Het
Prob1 T C 18: 35,787,192 (GRCm39) Y354C probably benign Het
Rimklb C T 6: 122,433,280 (GRCm39) S347N possibly damaging Het
Rnase2a T C 14: 51,492,945 (GRCm39) D140G probably damaging Het
Ryr2 G A 13: 11,787,302 (GRCm39) P1017S probably benign Het
Slc3a1 A G 17: 85,340,205 (GRCm39) D209G probably damaging Het
Sntn T A 14: 13,682,205 (GRCm38) probably benign Het
Tal2 G T 4: 53,785,994 (GRCm39) L58F probably damaging Het
Trim39 T C 17: 36,571,463 (GRCm39) K432E probably damaging Het
Vmn2r3 T A 3: 64,182,767 (GRCm39) I311L possibly damaging Het
Wfdc17 A T 11: 83,595,611 (GRCm39) probably benign Het
Zbtb6 T G 2: 37,319,584 (GRCm39) I115L probably damaging Het
Zfp750 A T 11: 121,402,770 (GRCm39) C659* probably null 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
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 2016-08-02