Incidental Mutation 'IGL00785:Trmu'
ID 14589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmu
Ensembl Gene ENSMUSG00000022386
Gene Name tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
Synonyms 1600025P05Rik, Mtu1, 1110005N20Rik, Trmt1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # IGL00785
Quality Score
Status
Chromosome 15
Chromosomal Location 85763513-85781595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85767032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 80 (D80E)
Ref Sequence ENSEMBL: ENSMUSP00000125704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023019] [ENSMUST00000162491]
AlphaFold Q9DAT5
Predicted Effect probably benign
Transcript: ENSMUST00000023019
AA Change: D80E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386
AA Change: D80E

DomainStartEndE-ValueType
Pfam:NAD_synthase 1 133 7.7e-7 PFAM
Pfam:ThiI 3 79 7.7e-8 PFAM
Pfam:tRNA_Me_trans 5 383 3.4e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160733
SMART Domains Protein: ENSMUSP00000125331
Gene: ENSMUSG00000022386

DomainStartEndE-ValueType
Pfam:tRNA_Me_trans 4 34 8.2e-9 PFAM
Pfam:tRNA_Me_trans 41 104 5.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162339
SMART Domains Protein: ENSMUSP00000125266
Gene: ENSMUSG00000022386

DomainStartEndE-ValueType
Pfam:tRNA_Me_trans 1 46 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162491
AA Change: D80E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125704
Gene: ENSMUSG00000022386
AA Change: D80E

DomainStartEndE-ValueType
Pfam:NAD_synthase 1 88 1.1e-8 PFAM
Pfam:Asn_synthase 1 90 3e-7 PFAM
Pfam:ThiI 3 84 1.6e-10 PFAM
Pfam:tRNA_Me_trans 5 88 2.9e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229871
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous KO is embryonic lethal. Homozygous conditional KO in the liver affects mitochondrial function owing to impaired mt-tRNA modifications. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cpt1a T A 19: 3,416,389 (GRCm39) N313K possibly damaging Het
Crb2 G A 2: 37,682,076 (GRCm39) C819Y probably damaging Het
Ctnna3 T G 10: 63,402,612 (GRCm39) F108V probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fam120a A G 13: 49,042,609 (GRCm39) S931P probably benign Het
Ganc A C 2: 120,272,079 (GRCm39) Y579S probably damaging Het
Hsd17b12 A G 2: 93,875,759 (GRCm39) S189P probably damaging Het
Itprid2 A G 2: 79,487,612 (GRCm39) E565G possibly damaging Het
Kif11 C A 19: 37,392,745 (GRCm39) L559I probably benign Het
Kif11 T C 19: 37,392,746 (GRCm39) L559P probably damaging Het
Luc7l2 T C 6: 38,575,721 (GRCm39) S261P possibly damaging Het
Myo7a T C 7: 97,703,555 (GRCm39) K2035E probably damaging Het
Nbea A G 3: 55,862,814 (GRCm39) S1813P probably benign Het
Osbpl8 A G 10: 111,108,905 (GRCm39) T396A probably benign Het
Ppfibp2 A G 7: 107,337,094 (GRCm39) T560A probably benign Het
Rictor A C 15: 6,806,431 (GRCm39) Q683P probably damaging Het
Ryr3 A T 2: 112,666,448 (GRCm39) H1519Q possibly damaging Het
Slc34a2 A T 5: 53,222,950 (GRCm39) I347F probably benign Het
Sned1 C A 1: 93,201,891 (GRCm39) probably benign Het
St7l A G 3: 104,780,895 (GRCm39) probably benign Het
Trpv4 A G 5: 114,766,686 (GRCm39) V620A probably damaging Het
Ubr2 G A 17: 47,255,791 (GRCm39) T1370I possibly damaging Het
Xpo5 T C 17: 46,515,618 (GRCm39) V48A probably damaging Het
Zfp638 T C 6: 83,906,146 (GRCm39) W104R probably damaging Het
Other mutations in Trmu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02873:Trmu APN 15 85,781,033 (GRCm39) splice site probably null
IGL03375:Trmu APN 15 85,779,138 (GRCm39) missense possibly damaging 0.65
R0592:Trmu UTSW 15 85,781,027 (GRCm39) unclassified probably benign
R0781:Trmu UTSW 15 85,763,604 (GRCm39) nonsense probably null
R1120:Trmu UTSW 15 85,774,486 (GRCm39) missense possibly damaging 0.75
R1165:Trmu UTSW 15 85,776,875 (GRCm39) missense probably damaging 0.99
R1443:Trmu UTSW 15 85,781,302 (GRCm39) splice site probably null
R1503:Trmu UTSW 15 85,779,220 (GRCm39) missense possibly damaging 0.88
R4626:Trmu UTSW 15 85,779,186 (GRCm39) missense possibly damaging 0.96
R4790:Trmu UTSW 15 85,767,006 (GRCm39) missense probably damaging 1.00
R5134:Trmu UTSW 15 85,780,556 (GRCm39) splice site probably null
R5399:Trmu UTSW 15 85,780,609 (GRCm39) splice site probably null
R5639:Trmu UTSW 15 85,766,899 (GRCm39) missense probably damaging 1.00
R6831:Trmu UTSW 15 85,779,207 (GRCm39) missense probably benign
R8093:Trmu UTSW 15 85,766,921 (GRCm39) missense probably benign 0.08
R8276:Trmu UTSW 15 85,766,932 (GRCm39) missense possibly damaging 0.88
R9163:Trmu UTSW 15 85,781,096 (GRCm39) missense probably benign 0.00
RF007:Trmu UTSW 15 85,776,770 (GRCm39) missense possibly damaging 0.93
Posted On 2012-12-06