Incidental Mutation 'IGL00539:Trmt5'
ID5980
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 #IGL00539
Quality Score
Status
Chromosome12
Chromosomal Location73280011-73286710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73284919 bp
ZygosityHeterozygous
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] [ENSMUST00000220701] [ENSMUST00000221189]
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 probably benign
Transcript: ENSMUST00000220701
Predicted Effect possibly damaging
Transcript: ENSMUST00000221189
AA Change: E69G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
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: 9,007,908 D2185E possibly damaging Het
Camk2b A G 11: 5,972,310 S560P probably damaging Het
Cdh13 C A 8: 119,312,506 N562K possibly damaging Het
Cdhr4 A G 9: 107,999,545 Y771C probably damaging Het
Ermap A G 4: 119,183,917 S299P probably damaging Het
Fgd3 A G 13: 49,275,643 probably benign Het
Fpr-rs4 T A 17: 18,021,926 L65Q probably damaging Het
Hsph1 C T 5: 149,618,789 R723H possibly damaging Het
Iqcb1 A G 16: 36,858,511 K396E probably damaging Het
Kif21a T C 15: 90,937,301 T1424A probably damaging Het
Mpdz T C 4: 81,361,351 S700G possibly damaging Het
Mta3 G A 17: 83,762,983 R39Q probably benign Het
Muc4 A T 16: 32,750,910 T263S possibly damaging Het
Ncan G A 8: 70,115,271 P64S probably benign Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Pla2g4f T C 2: 120,302,738 H660R possibly damaging Het
Polq A G 16: 37,060,569 T753A probably damaging Het
Ptchd4 C T 17: 42,316,926 Q93* probably null Het
Sfpq T C 4: 127,023,688 V437A possibly damaging Het
Slc18b1 G A 10: 23,824,761 probably null Het
Taf1c C T 8: 119,601,328 V277I possibly damaging Het
Tcf20 T A 15: 82,852,756 Q1498L probably benign Het
Tet1 C A 10: 62,814,497 C1644F probably damaging Het
Wapl A G 14: 34,695,008 D525G probably damaging Het
Ylpm1 A G 12: 85,028,954 T360A possibly damaging Het
Zfp292 G A 4: 34,808,790 P1418L probably damaging Het
Other mutations in Trmt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2012-04-20