Incidental Mutation 'IGL02541:Trmt12'
ID 298248
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 # IGL02541
Quality Score
Status
Chromosome 15
Chromosomal Location 58744498-58748630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58745651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 350 (W350R)
Ref Sequence ENSEMBL: ENSMUSP00000047831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036937]
AlphaFold Q8BG71
Predicted Effect probably benign
Transcript: ENSMUST00000036937
AA Change: W350R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047831
Gene: ENSMUSG00000037085
AA Change: W350R

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,113,881 (GRCm39) L917F possibly damaging Het
Abca6 A T 11: 110,103,093 (GRCm39) W833R probably damaging Het
Asb15 T A 6: 24,566,265 (GRCm39) V406D probably damaging Het
Bcl9l T C 9: 44,419,066 (GRCm39) V968A probably benign Het
Bend7 T C 2: 4,768,116 (GRCm39) probably null Het
Cadm2 C A 16: 66,679,770 (GRCm39) G21V possibly damaging Het
Cadm2 C A 16: 66,679,771 (GRCm39) probably null Het
Camta1 G A 4: 151,169,112 (GRCm39) T1191I probably benign Het
Cep152 C T 2: 125,447,274 (GRCm39) A425T probably damaging Het
Cep95 C A 11: 106,706,407 (GRCm39) Q554K probably damaging Het
Cgref1 A G 5: 31,091,502 (GRCm39) probably null Het
Clock T A 5: 76,410,519 (GRCm39) probably null Het
Cmc2 A G 8: 117,620,883 (GRCm39) F33L probably benign Het
Cnksr3 A G 10: 7,085,073 (GRCm39) V258A probably damaging Het
Col6a6 G T 9: 105,609,415 (GRCm39) N1624K probably benign Het
Cped1 T C 6: 22,120,988 (GRCm39) I356T probably benign Het
Dpy19l2 C T 9: 24,569,943 (GRCm39) V337I probably benign Het
E2f3 A T 13: 30,100,827 (GRCm39) probably null Het
Eif1ad A G 19: 5,418,445 (GRCm39) probably benign Het
Fam114a2 A T 11: 57,390,627 (GRCm39) D302E probably benign Het
Fign T C 2: 63,809,881 (GRCm39) N463S probably benign Het
Fzr1 T C 10: 81,205,867 (GRCm39) T220A probably damaging Het
Gm14496 G A 2: 181,642,186 (GRCm39) R619Q probably benign Het
Gm9966 T C 7: 95,607,991 (GRCm39) I104T unknown Het
Itgb7 G T 15: 102,131,892 (GRCm39) H230Q probably benign Het
Kif7 T C 7: 79,360,628 (GRCm39) H249R possibly damaging Het
Krtap4-2 T G 11: 99,525,792 (GRCm39) Q20P unknown Het
Mis18bp1 T C 12: 65,208,234 (GRCm39) T160A probably damaging Het
Mrps9 T C 1: 42,901,814 (GRCm39) probably null Het
Mynn T A 3: 30,665,752 (GRCm39) H461Q probably damaging Het
Naa25 A G 5: 121,562,594 (GRCm39) T459A possibly damaging Het
Niban3 A T 8: 72,055,426 (GRCm39) T279S probably benign Het
Notch1 C T 2: 26,358,515 (GRCm39) D1439N probably benign Het
Or2ag2b A G 7: 106,417,809 (GRCm39) E173G probably benign Het
Pals2 A G 6: 50,160,707 (GRCm39) I323V probably benign Het
Pcdhb3 A T 18: 37,435,198 (GRCm39) D388V probably damaging Het
Pold3 C T 7: 99,732,879 (GRCm39) G417S probably damaging Het
Pwwp3a G A 10: 80,064,273 (GRCm39) probably null Het
Rad17 A G 13: 100,769,951 (GRCm39) probably benign Het
Sh3glb1 T C 3: 144,425,801 (GRCm39) D5G probably damaging Het
Shank3 T A 15: 89,385,613 (GRCm39) Y167N probably damaging Het
Slc3a2 A T 19: 8,685,123 (GRCm39) Y292* probably null Het
Slc7a13 T A 4: 19,839,212 (GRCm39) probably benign Het
Snx18 A T 13: 113,731,302 (GRCm39) I564N probably damaging Het
Supt6 G A 11: 78,117,744 (GRCm39) R491C probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tnrc6b C A 15: 80,764,032 (GRCm39) D511E probably benign Het
Trio A G 15: 27,845,016 (GRCm39) probably benign Het
Ttc1 T C 11: 43,629,648 (GRCm39) T173A probably benign Het
Ttc39d C A 17: 80,523,875 (GRCm39) T178K probably damaging Het
Ufl1 T A 4: 25,250,534 (GRCm39) E693V possibly damaging Het
Vamp2 G T 11: 68,979,977 (GRCm39) E16D unknown Het
Vmn2r-ps158 T A 7: 42,673,092 (GRCm39) probably benign Het
Wdr70 C T 15: 7,913,783 (GRCm39) W622* probably null Het
Zfp28 C T 7: 6,396,479 (GRCm39) Q305* probably null Het
Zfp653 C A 9: 21,967,079 (GRCm39) R602L probably damaging Het
Zzef1 T A 11: 72,763,475 (GRCm39) V1374E probably damaging Het
Other mutations in Trmt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02112:Trmt12 APN 15 58,744,665 (GRCm39) missense probably damaging 1.00
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