Incidental Mutation 'IGL02112:Trmt12'
ID 280198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt12
Ensembl Gene ENSMUSG00000037085
Gene Name tRNA methyltransferase 12
Synonyms Tyw2, 4632406N01Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # IGL02112
Quality Score
Status
Chromosome 15
Chromosomal Location 58744498-58748630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58744665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 21 (Q21L)
Ref Sequence ENSEMBL: ENSMUSP00000047831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036937]
AlphaFold Q8BG71
Predicted Effect probably damaging
Transcript: ENSMUST00000036937
AA Change: Q21L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047831
Gene: ENSMUSG00000037085
AA Change: Q21L

DomainStartEndE-ValueType
Pfam:Met_10 122 327 4.2e-31 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,175 (GRCm39) Y490F possibly damaging Het
Appbp2 A T 11: 85,092,446 (GRCm39) H271Q probably benign Het
Arhgap17 A T 7: 122,917,640 (GRCm39) D181E possibly damaging Het
Arhgap25 T A 6: 87,444,919 (GRCm39) Y286F possibly damaging Het
Atf2 T C 2: 73,649,381 (GRCm39) K352R probably damaging Het
Bdp1 G A 13: 100,174,308 (GRCm39) T2076I probably benign Het
C1s2 A G 6: 124,602,267 (GRCm39) V642A probably benign Het
Cldn18 T A 9: 99,580,128 (GRCm39) T170S probably benign Het
Cntnap5c T A 17: 58,620,853 (GRCm39) H977Q probably benign Het
Col15a1 T A 4: 47,253,985 (GRCm39) probably benign Het
Csmd1 A T 8: 16,131,719 (GRCm39) Y1669N probably benign Het
Csmd3 A C 15: 48,177,265 (GRCm39) S424R possibly damaging Het
Cyp4a31 A G 4: 115,428,180 (GRCm39) D306G probably damaging Het
E2f2 A G 4: 135,920,145 (GRCm39) T377A probably benign Het
Edil3 A G 13: 89,328,374 (GRCm39) D276G probably damaging Het
Ei24 A T 9: 36,693,638 (GRCm39) Y305N probably damaging Het
Erbin T C 13: 103,998,844 (GRCm39) N181D probably benign Het
Gli3 A G 13: 15,837,099 (GRCm39) Q494R probably damaging Het
Gm16519 T C 17: 71,236,291 (GRCm39) I80T probably damaging Het
Haus8 T A 8: 71,708,205 (GRCm39) E163V probably damaging Het
Hephl1 G T 9: 14,993,111 (GRCm39) probably benign Het
Hnrnph3 A G 10: 62,852,184 (GRCm39) probably null Het
Liat1 G T 11: 75,894,214 (GRCm39) C197F probably benign Het
Mast2 A T 4: 116,176,961 (GRCm39) C437S probably damaging Het
Mef2a A C 7: 66,914,620 (GRCm39) S91R probably damaging Het
Mfge8 A T 7: 78,793,088 (GRCm39) V126D probably benign Het
Nrdc A G 4: 108,884,629 (GRCm39) probably benign Het
Or7d10 T A 9: 19,831,821 (GRCm39) N105K possibly damaging Het
Panx2 A G 15: 88,953,772 (GRCm39) T576A probably benign Het
Per3 T C 4: 151,113,640 (GRCm39) Y306C probably benign Het
Ppm1h G A 10: 122,638,305 (GRCm39) G192R possibly damaging Het
Prss22 T C 17: 24,212,945 (GRCm39) E264G probably damaging Het
Rasa3 A G 8: 13,635,042 (GRCm39) probably benign Het
Rpl7a-ps8 C A 7: 19,687,985 (GRCm39) probably benign Het
Rundc1 A G 11: 101,324,425 (GRCm39) D377G probably benign Het
Sh3bp1 T C 15: 78,790,084 (GRCm39) probably null Het
Sobp A G 10: 42,897,873 (GRCm39) S571P probably benign Het
Styxl2 C A 1: 165,927,240 (GRCm39) E791* probably null Het
Syce1 C A 7: 140,359,545 (GRCm39) M114I probably benign Het
Tdrd6 G A 17: 43,940,242 (GRCm39) R269W probably damaging Het
Tmprss13 T C 9: 45,250,702 (GRCm39) S408P probably damaging Het
Tonsl T C 15: 76,517,602 (GRCm39) T706A probably benign Het
Tpcn2 A G 7: 144,810,529 (GRCm39) S603P probably benign Het
Vmn1r68 C T 7: 10,261,787 (GRCm39) G104S probably damaging Het
Vmn2r82 T C 10: 79,231,833 (GRCm39) W611R probably benign Het
Vmn2r90 C A 17: 17,932,465 (GRCm39) T124K probably damaging Het
Vmn2r99 A G 17: 19,600,494 (GRCm39) E506G probably null Het
Other mutations in Trmt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02541:Trmt12 APN 15 58,745,651 (GRCm39) missense probably benign 0.00
R0139:Trmt12 UTSW 15 58,744,743 (GRCm39) missense possibly damaging 0.90
R0636:Trmt12 UTSW 15 58,745,834 (GRCm39) missense probably damaging 0.98
R1605:Trmt12 UTSW 15 58,744,764 (GRCm39) missense probably benign 0.00
R1655:Trmt12 UTSW 15 58,745,076 (GRCm39) missense probably damaging 1.00
R5328:Trmt12 UTSW 15 58,744,704 (GRCm39) missense probably damaging 0.99
R6727:Trmt12 UTSW 15 58,744,514 (GRCm39) unclassified probably benign
R9165:Trmt12 UTSW 15 58,745,594 (GRCm39) missense probably benign 0.13
R9166:Trmt12 UTSW 15 58,744,608 (GRCm39) missense probably benign 0.15
R9355:Trmt12 UTSW 15 58,744,824 (GRCm39) missense probably damaging 0.97
R9477:Trmt12 UTSW 15 58,745,471 (GRCm39) missense possibly damaging 0.93
X0063:Trmt12 UTSW 15 58,745,133 (GRCm39) missense probably damaging 1.00
Z1177:Trmt12 UTSW 15 58,745,215 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16