Incidental Mutation 'IGL02314:Trmt6'
ID 287937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmt6
Ensembl Gene ENSMUSG00000037376
Gene Name tRNA methyltransferase 6
Synonyms 3300001M20Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL02314
Quality Score
Status
Chromosome 2
Chromosomal Location 132646127-132657975 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 132647378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 486 (A486V)
Ref Sequence ENSEMBL: ENSMUSP00000044687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039554]
AlphaFold Q8CE96
Predicted Effect probably benign
Transcript: ENSMUST00000039554
AA Change: A486V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000044687
Gene: ENSMUSG00000037376
AA Change: A486V

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:Gcd10p 20 302 7.2e-74 PFAM
coiled coil region 345 364 N/A INTRINSIC
low complexity region 444 456 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152836
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 T A 4: 47,472,143 (GRCm39) K94* probably null Het
Axl A G 7: 25,486,345 (GRCm39) F120L possibly damaging Het
Baz2b A G 2: 59,792,571 (GRCm39) V519A probably benign Het
Cdk2 A T 10: 128,539,595 (GRCm39) I99N probably damaging Het
Ces1b C A 8: 93,791,524 (GRCm39) W358C possibly damaging Het
Cimap1b T G 15: 89,262,372 (GRCm39) K82N probably damaging Het
Clca3b A G 3: 144,533,903 (GRCm39) probably benign Het
Col6a4 T G 9: 105,874,355 (GRCm39) T2211P probably damaging Het
Cyp4f14 C T 17: 33,125,265 (GRCm39) E438K probably benign Het
Dpy19l4 T A 4: 11,267,720 (GRCm39) T407S possibly damaging Het
Dtx3 G A 10: 127,026,828 (GRCm39) probably benign Het
Eif1ad14 T A 12: 87,886,377 (GRCm39) Y84F probably benign Het
Fat3 A T 9: 15,881,134 (GRCm39) L3246H possibly damaging Het
Fat4 A T 3: 38,941,779 (GRCm39) D224V probably damaging Het
Fndc9 A T 11: 46,129,122 (GRCm39) I214F probably benign Het
Foxred1 A T 9: 35,117,264 (GRCm39) I22N probably damaging Het
Gkn1 T C 6: 87,326,103 (GRCm39) D29G probably benign Het
Gng11 T A 6: 4,004,317 (GRCm39) M1K probably null Het
Hdac7 T C 15: 97,706,885 (GRCm39) D237G probably damaging Het
Hgf A G 5: 16,777,600 (GRCm39) Y199C probably damaging Het
Hgfac A T 5: 35,198,941 (GRCm39) M1L probably benign Het
Hsd17b6 T C 10: 127,833,777 (GRCm39) T35A probably damaging Het
Htr3a G A 9: 48,815,927 (GRCm39) P170L probably damaging Het
Ighv12-3 A G 12: 114,330,421 (GRCm39) S25P probably damaging Het
Jph2 A T 2: 163,239,273 (GRCm39) N58K probably damaging Het
Lama5 A G 2: 179,836,275 (GRCm39) probably benign Het
Lpin3 T A 2: 160,740,638 (GRCm39) Y394* probably null Het
Macf1 G T 4: 123,338,630 (GRCm39) T2248K probably damaging Het
Map3k2 A G 18: 32,351,553 (GRCm39) probably benign Het
Map4k5 G A 12: 69,865,213 (GRCm39) P524S probably benign Het
Mcf2l C T 8: 13,051,851 (GRCm39) S359L probably damaging Het
Mdh1b C T 1: 63,750,273 (GRCm39) probably null Het
Mfhas1 G A 8: 36,055,927 (GRCm39) R134H probably damaging Het
Mogs A G 6: 83,095,036 (GRCm39) T618A probably benign Het
Mybpc2 T A 7: 44,171,812 (GRCm39) Q39H possibly damaging Het
Myoc C T 1: 162,466,917 (GRCm39) R29W probably damaging Het
Nae1 A G 8: 105,252,938 (GRCm39) M162T probably damaging Het
Nfatc3 A G 8: 106,805,532 (GRCm39) I126V probably benign Het
Nxnl2 C A 13: 51,325,565 (GRCm39) F69L probably benign Het
Oca2 T A 7: 56,006,899 (GRCm39) I662N probably benign Het
Or52b3 A T 7: 102,204,318 (GRCm39) I276F probably damaging Het
Or5w8 A G 2: 87,688,400 (GRCm39) N294D probably damaging Het
Or7c70 A T 10: 78,683,099 (GRCm39) S217T probably damaging Het
Or7e176 A T 9: 20,171,774 (GRCm39) I213L probably benign Het
Pcdhb14 G A 18: 37,583,248 (GRCm39) E785K probably benign Het
Plb1 A C 5: 32,438,492 (GRCm39) Y209S possibly damaging Het
Pramel24 T C 4: 143,455,012 (GRCm39) S437P probably benign Het
Rab44 C A 17: 29,358,327 (GRCm39) Q172K probably benign Het
Rnf214 A T 9: 45,811,105 (GRCm39) V186E probably benign Het
Rps6ka1 C A 4: 133,578,065 (GRCm39) G522W probably damaging Het
Samhd1 G T 2: 156,976,948 (GRCm39) T21K probably damaging Het
Scly A G 1: 91,246,763 (GRCm39) Y358C probably benign Het
Sfxn2 A G 19: 46,571,026 (GRCm39) N29D possibly damaging Het
Shank2 A G 7: 143,965,008 (GRCm39) D1451G probably benign Het
Slc44a5 G A 3: 153,962,156 (GRCm39) S363N probably damaging Het
Smg1 A G 7: 117,753,932 (GRCm39) probably benign Het
Tas1r3 A T 4: 155,945,119 (GRCm39) C701S probably damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Ttn G A 2: 76,727,091 (GRCm39) R1602* probably null Het
Ush2a A G 1: 188,365,826 (GRCm39) M2227V probably benign Het
Vmn2r96 A T 17: 18,804,221 (GRCm39) Q490H probably benign Het
Wdr19 G T 5: 65,414,463 (GRCm39) A1279S probably benign Het
Zbtb7c G A 18: 76,278,937 (GRCm39) R465H probably damaging Het
Zfp473 T C 7: 44,383,353 (GRCm39) S326G probably benign Het
Other mutations in Trmt6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02604:Trmt6 APN 2 132,652,357 (GRCm39) nonsense probably null
IGL03216:Trmt6 APN 2 132,650,618 (GRCm39) missense probably null
IGL03231:Trmt6 APN 2 132,657,756 (GRCm39) missense probably benign 0.01
R0060:Trmt6 UTSW 2 132,648,689 (GRCm39) missense possibly damaging 0.84
R0060:Trmt6 UTSW 2 132,648,689 (GRCm39) missense possibly damaging 0.84
R0086:Trmt6 UTSW 2 132,650,937 (GRCm39) critical splice acceptor site probably benign
R0485:Trmt6 UTSW 2 132,650,950 (GRCm39) splice site probably benign
R0827:Trmt6 UTSW 2 132,657,754 (GRCm39) missense probably damaging 1.00
R1654:Trmt6 UTSW 2 132,657,755 (GRCm39) missense possibly damaging 0.92
R1757:Trmt6 UTSW 2 132,652,157 (GRCm39) missense probably damaging 0.96
R1974:Trmt6 UTSW 2 132,652,968 (GRCm39) missense probably damaging 1.00
R2008:Trmt6 UTSW 2 132,648,829 (GRCm39) nonsense probably null
R2310:Trmt6 UTSW 2 132,650,832 (GRCm39) missense probably damaging 1.00
R4989:Trmt6 UTSW 2 132,650,191 (GRCm39) missense possibly damaging 0.58
R5288:Trmt6 UTSW 2 132,650,703 (GRCm39) missense probably benign 0.03
R5385:Trmt6 UTSW 2 132,650,703 (GRCm39) missense probably benign 0.03
R5386:Trmt6 UTSW 2 132,650,703 (GRCm39) missense probably benign 0.03
R6546:Trmt6 UTSW 2 132,654,073 (GRCm39) missense probably benign 0.16
R6815:Trmt6 UTSW 2 132,651,778 (GRCm39) missense probably damaging 1.00
R7992:Trmt6 UTSW 2 132,652,959 (GRCm39) missense probably damaging 1.00
R8016:Trmt6 UTSW 2 132,651,826 (GRCm39) missense probably damaging 1.00
R9445:Trmt6 UTSW 2 132,650,774 (GRCm39) missense probably benign 0.23
R9446:Trmt6 UTSW 2 132,650,774 (GRCm39) missense probably benign 0.23
R9482:Trmt6 UTSW 2 132,648,699 (GRCm39) missense probably benign 0.04
R9639:Trmt6 UTSW 2 132,650,862 (GRCm39) nonsense probably null
Posted On 2015-04-16