Incidental Mutation 'IGL02688:Trmt5'
ID303624
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: 0.953) question?
Stock #IGL02688
Quality Score
Status
Chromosome12
Chromosomal Location73280011-73286710 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 73281458 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 324 (E324*)
Ref Sequence ENSEMBL: ENSMUSP00000112121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116420] [ENSMUST00000220701] [ENSMUST00000221189]
Predicted Effect probably null
Transcript: ENSMUST00000116420
AA Change: E324*
SMART Domains Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442
AA Change: E324*

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C A 8: 40,826,320 R583S probably benign Het
Bcl9l C T 9: 44,505,263 T211I possibly damaging Het
C6 A G 15: 4,798,320 I724V probably benign Het
Cacna2d4 T A 6: 119,270,749 probably null Het
Casp4 A G 9: 5,322,844 E40G possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Dnah7a A C 1: 53,444,472 M3382R possibly damaging Het
Dst T C 1: 34,195,952 L3526P probably damaging Het
Eya4 A G 10: 23,159,110 S116P probably benign Het
Gabra4 T A 5: 71,572,167 E423D probably benign Het
Ighv1-67 T G 12: 115,604,023 T90P probably damaging Het
Kcnh8 A G 17: 52,959,443 T828A probably benign Het
Nr5a2 A G 1: 136,940,407 probably null Het
Nup214 C T 2: 32,031,275 P1237S probably benign Het
Phactr3 A G 2: 178,278,999 D215G probably damaging Het
Phf2 G T 13: 48,805,839 P897Q unknown Het
Pla2r1 T C 2: 60,455,201 R690G probably damaging Het
Ppargc1b A G 18: 61,312,243 S181P possibly damaging Het
Sele A T 1: 164,050,130 I165F probably damaging Het
Srcap T C 7: 127,542,453 S1626P probably benign Het
Tenm2 A G 11: 36,068,458 I1088T probably benign Het
Tnrc18 T C 5: 142,790,172 S69G probably damaging Het
Ttll3 T C 6: 113,399,739 I360T probably benign Het
Zfp277 A G 12: 40,328,688 V390A possibly damaging Het
Other mutations in Trmt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Trmt5 APN 12 73284919 missense possibly damaging 0.80
IGL01468:Trmt5 APN 12 73281104 missense probably benign 0.08
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
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 On2015-04-16