Incidental Mutation 'IGL01468:Trmt5'
ID88176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt5
Ensembl Gene ENSMUSG00000034442
Gene NameTRM5 tRNA methyltransferase 5
Synonyms2610027O18Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #IGL01468
Quality Score
Status
Chromosome12
Chromosomal Location73280011-73286710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 73281104 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 442 (V442I)
Ref Sequence ENSEMBL: ENSMUSP00000112121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116420] [ENSMUST00000220701] [ENSMUST00000221189]
Predicted Effect probably benign
Transcript: ENSMUST00000116420
AA Change: V442I

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: V442I

DomainStartEndE-ValueType
Pfam:Met_10 191 412 4.5e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220701
Predicted Effect probably benign
Transcript: ENSMUST00000221189
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 80,003,877 V781I probably benign Het
Aldh5a1 G T 13: 24,911,553 probably benign Het
Arhgap12 T C 18: 6,057,576 T435A probably benign Het
Atrnl1 G A 19: 57,699,712 V870I probably benign Het
Cerkl A T 2: 79,343,215 probably null Het
Cntnap2 T A 6: 47,271,371 L13* probably null Het
Cr2 G A 1: 195,168,535 P208S probably damaging Het
Dapk1 A G 13: 60,760,798 D1075G probably benign Het
Dhx57 T A 17: 80,255,610 K863* probably null Het
Dnaaf5 C A 5: 139,151,480 probably null Het
Fbxw7 T A 3: 84,972,499 I336K probably benign Het
Ftcd A G 10: 76,584,587 D385G probably benign Het
Gm10153 T C 7: 142,190,041 S117G unknown Het
Gzmb T C 14: 56,260,315 Y156C probably benign Het
Herc3 T A 6: 58,854,895 D83E probably benign Het
Kif2b A G 11: 91,576,365 V364A probably damaging Het
Mknk2 A G 10: 80,667,664 probably benign Het
Olfr1352 A T 10: 78,983,862 Q24L probably damaging Het
Pgm2 A T 4: 99,962,170 N197I possibly damaging Het
Prss39 C T 1: 34,499,400 probably benign Het
Shroom3 T C 5: 92,940,342 V236A probably damaging Het
Slc17a8 C T 10: 89,592,021 probably null Het
Slc24a3 A G 2: 145,613,580 Y463C probably benign Het
Slc4a7 A G 14: 14,737,480 E149G probably damaging Het
Synj1 G A 16: 91,010,172 probably benign Het
Tas2r138 T A 6: 40,612,476 M279L probably benign Het
Terb1 A G 8: 104,482,167 probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tsc2 T C 17: 24,621,097 I383V possibly damaging Het
Uchl4 A G 9: 64,235,716 T160A possibly damaging Het
Vmn2r3 A T 3: 64,274,961 M439K possibly damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Vmn2r52 A T 7: 10,158,941 L757Q probably damaging Het
Zfp518a T C 19: 40,916,031 V1468A probably benign Het
Zxdc A T 6: 90,373,779 E404V probably damaging Het
Other mutations in Trmt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Trmt5 APN 12 73284919 missense possibly damaging 0.80
IGL01681:Trmt5 APN 12 73282603 unclassified probably benign
IGL02502:Trmt5 APN 12 73281227 missense probably benign 0.06
IGL02627:Trmt5 APN 12 73281455 missense probably damaging 1.00
IGL02688:Trmt5 APN 12 73281458 nonsense probably null
IGL03390:Trmt5 APN 12 73282727 missense probably benign 0.30
IGL03391:Trmt5 APN 12 73281452 missense probably benign 0.00
R2068:Trmt5 UTSW 12 73284670 unclassified probably null
R2239:Trmt5 UTSW 12 73285114 missense probably benign 0.00
R2380:Trmt5 UTSW 12 73285114 missense probably benign 0.00
R5169:Trmt5 UTSW 12 73282721 missense probably damaging 1.00
R5578:Trmt5 UTSW 12 73285063 unclassified probably null
R5579:Trmt5 UTSW 12 73281652 missense possibly damaging 0.92
R7390:Trmt5 UTSW 12 73281620 missense probably damaging 1.00
Posted On2013-11-18