Incidental Mutation 'R5639:Trmu'
ID 440567
Institutional Source Beutler Lab
Gene Symbol Trmu
Ensembl Gene ENSMUSG00000022386
Gene Name tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
Synonyms 1600025P05Rik, Mtu1, 1110005N20Rik, Trmt1
MMRRC Submission 043288-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R5639 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 85763513-85781595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85766899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 36 (M36K)
Ref Sequence ENSEMBL: ENSMUSP00000023019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023019] [ENSMUST00000162491]
AlphaFold Q9DAT5
Predicted Effect probably damaging
Transcript: ENSMUST00000023019
AA Change: M36K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386
AA Change: M36K

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 damaging
Transcript: ENSMUST00000162491
AA Change: M36K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125704
Gene: ENSMUSG00000022386
AA Change: M36K

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,769,866 (GRCm39) Y322H probably benign Het
Aldh1a1 C A 19: 20,600,786 (GRCm39) T201K probably damaging Het
Ankrd26 T C 6: 118,516,685 (GRCm39) E493G possibly damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Bicc1 A T 10: 70,776,350 (GRCm39) V701E probably damaging Het
Car11 T A 7: 45,352,045 (GRCm39) probably null Het
Ccn1 A C 3: 145,354,452 (GRCm39) V153G probably damaging Het
Celsr1 C G 15: 85,914,968 (GRCm39) V1002L probably damaging Het
Clpx T A 9: 65,237,112 (GRCm39) S597T probably benign Het
Cplx3 A T 9: 57,519,149 (GRCm39) F266I probably benign Het
Dmpk A G 7: 18,826,525 (GRCm39) M545V probably benign Het
Dnah7c C G 1: 46,778,828 (GRCm39) D3139E probably benign Het
Drd5 T A 5: 38,477,178 (GRCm39) V57D possibly damaging Het
Epc2 A G 2: 49,341,903 (GRCm39) N29S possibly damaging Het
Ercc3 T C 18: 32,398,767 (GRCm39) V682A probably damaging Het
Fam186a T C 15: 99,844,931 (GRCm39) K438E unknown Het
Farp1 T A 14: 121,512,794 (GRCm39) I764N probably damaging Het
Flvcr2 A T 12: 85,794,250 (GRCm39) I209F probably benign Het
Fndc3b C T 3: 27,480,302 (GRCm39) V1065M probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gp6 C A 7: 4,397,130 (GRCm39) D102Y probably damaging Het
Gpc5 T C 14: 115,330,179 (GRCm39) L114P probably benign Het
Kcnq3 T A 15: 65,869,599 (GRCm39) E613V probably damaging Het
Krt74 T G 15: 101,665,195 (GRCm39) noncoding transcript Het
Lipe T C 7: 25,082,750 (GRCm39) T801A probably benign Het
Lrp1 A G 10: 127,429,708 (GRCm39) V454A probably damaging Het
Lsm14a T C 7: 34,052,935 (GRCm39) D338G probably damaging Het
Mctp1 T C 13: 77,172,902 (GRCm39) silent Het
Nlrp4a G A 7: 26,156,455 (GRCm39) A727T probably benign Het
Nrgn T C 9: 37,457,344 (GRCm39) S48G probably benign Het
Oga A G 19: 45,765,438 (GRCm39) I123T probably damaging Het
Or10k2 T C 8: 84,267,973 (GRCm39) S67P probably damaging Het
Or4a73 T C 2: 89,421,069 (GRCm39) Y130C probably damaging Het
Or51f23 A G 7: 102,453,200 (GRCm39) S172G probably benign Het
Pdia6 A G 12: 17,328,594 (GRCm39) E183G probably benign Het
Pign T A 1: 105,517,040 (GRCm39) I529F probably benign Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Samm50 T G 15: 84,098,329 (GRCm39) I456S probably benign Het
Sesn1 A G 10: 41,687,267 (GRCm39) R84G probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Spag17 G T 3: 99,963,482 (GRCm39) D1067Y probably damaging Het
Sptan1 C T 2: 29,881,005 (GRCm39) Q425* probably null Het
Srrm4 T A 5: 116,729,418 (GRCm39) I36F unknown Het
Tas1r2 A T 4: 139,387,107 (GRCm39) S189C probably damaging Het
Tep1 A G 14: 51,091,062 (GRCm39) V690A possibly damaging Het
Trmo T C 4: 46,382,073 (GRCm39) K348R probably benign Het
Ubr4 A G 4: 139,179,959 (GRCm39) T3380A possibly damaging Het
Unc79 A C 12: 103,137,831 (GRCm39) T2425P probably damaging Het
Vmn2r12 G A 5: 109,240,666 (GRCm39) T149I probably benign Het
Vwa3a A C 7: 120,389,366 (GRCm39) K68T probably damaging Het
Yif1a T C 19: 5,138,778 (GRCm39) probably null Het
Zbtb44 A T 9: 30,965,348 (GRCm39) T253S probably damaging Het
Zdhhc3 T C 9: 122,929,410 (GRCm39) Y75C probably damaging Het
Zfp189 T A 4: 49,530,153 (GRCm39) F419I probably benign Het
Zfp663 T C 2: 165,194,929 (GRCm39) D430G probably benign Het
Zfp709 T G 8: 72,643,835 (GRCm39) probably null Het
Other mutations in Trmu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Trmu APN 15 85,767,032 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGTACCAGTGCAATGAGGGC -3'
(R):5'- ACAATACACGCTGCCTGTGC -3'

Sequencing Primer
(F):5'- AAGTGGCCTCAGGTATTACAC -3'
(R):5'- CAATGGCCTGCACTCACCTG -3'
Posted On 2016-11-08