Incidental Mutation 'R8276:Trmu'
ID 637996
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 067699-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R8276 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 85763513-85781595 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85766932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 47 (V47D)
Ref Sequence ENSEMBL: ENSMUSP00000023019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023019] [ENSMUST00000162491]
AlphaFold Q9DAT5
Predicted Effect possibly damaging
Transcript: ENSMUST00000023019
AA Change: V47D

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386
AA Change: V47D

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
AA Change: V67D
SMART Domains Protein: ENSMUSP00000125331
Gene: ENSMUSG00000022386
AA Change: V67D

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: V47D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125704
Gene: ENSMUSG00000022386
AA Change: V47D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (44/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,385,885 (GRCm39) R27W probably damaging Het
Acbd5 A G 2: 22,959,563 (GRCm39) D39G probably benign Het
Amdhd2 C G 17: 24,382,574 (GRCm39) R22P probably damaging Het
Ankmy1 T C 1: 92,814,531 (GRCm39) I325M probably benign Het
Cyld A G 8: 89,461,556 (GRCm39) I664M probably benign Het
Dnajc10 T C 2: 80,179,614 (GRCm39) M716T probably benign Het
Dock10 T A 1: 80,505,998 (GRCm39) T1743S probably benign Het
Dop1a T C 9: 86,399,092 (GRCm39) S947P probably benign Het
Ep300 C G 15: 81,534,229 (GRCm39) N2095K possibly damaging Het
Evi2a T A 11: 79,418,316 (GRCm39) N98I probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Far2 G T 6: 148,075,399 (GRCm39) V420L probably benign Het
Gng5 A G 3: 146,206,258 (GRCm39) probably benign Het
Heatr5b G A 17: 79,098,968 (GRCm39) R1311* probably null Het
Hhipl2 A T 1: 183,217,328 (GRCm39) K478M possibly damaging Het
Hs3st1 A T 5: 39,772,146 (GRCm39) Y166N probably damaging Het
Jcad T A 18: 4,674,318 (GRCm39) S693R probably damaging Het
Kcnmb3 A G 3: 32,536,572 (GRCm39) L52P probably damaging Het
Mib1 T C 18: 10,751,880 (GRCm39) I254T possibly damaging Het
Myo18b T C 5: 112,943,273 (GRCm39) K1644R possibly damaging Het
Nherf2 G T 17: 24,861,234 (GRCm39) Y175* probably null Het
Nlrp2 G A 7: 5,320,494 (GRCm39) T881M probably benign Het
Or11h23 T A 14: 50,948,287 (GRCm39) S167T probably benign Het
Or52h9 A T 7: 104,202,522 (GRCm39) Y132F probably damaging Het
Pkd1l3 A C 8: 110,397,353 (GRCm39) *2152C probably null Het
Polr2a G A 11: 69,638,882 (GRCm39) R51C probably damaging Het
Ptpru C T 4: 131,506,484 (GRCm39) G1026D probably damaging Het
Rbm46 A G 3: 82,771,895 (GRCm39) V240A probably damaging Het
Rrm1 G A 7: 102,110,059 (GRCm39) probably null Het
Ryr3 T C 2: 112,470,962 (GRCm39) D4637G probably damaging Het
Selenos G A 7: 65,729,552 (GRCm39) probably benign Het
Serpina1e G T 12: 103,913,428 (GRCm39) T364K probably damaging Het
Shroom3 A T 5: 93,088,339 (GRCm39) Q363L probably damaging Het
Slc9b1 A C 3: 135,077,658 (GRCm39) E139D possibly damaging Het
Tjp1 A T 7: 64,993,544 (GRCm39) probably benign Het
Tmcc3 A T 10: 94,418,170 (GRCm39) T344S probably damaging Het
Tnrc6b T A 15: 80,764,918 (GRCm39) S807T probably benign Het
Trav7-6 A T 14: 53,954,695 (GRCm39) H95L probably benign Het
Uba6 C A 5: 86,290,509 (GRCm39) probably benign Het
Unc79 A G 12: 102,968,122 (GRCm39) D116G possibly damaging Het
Vmn2r93 G A 17: 18,525,649 (GRCm39) probably null Het
Zfp541 A T 7: 15,813,009 (GRCm39) H554L possibly damaging Het
Zfp618 A G 4: 63,051,193 (GRCm39) H658R probably damaging Het
Zmym1 A T 4: 126,948,051 (GRCm39) Y107N probably damaging 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
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
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'- ACAGCCTTGGATTGCCATTC -3'
(R):5'- CAACTTCAGCACAGTCTTGGC -3'

Sequencing Primer
(F):5'- GCCTTGGATTGCCATTCAAAATATAC -3'
(R):5'- TGGAGAAGCACTGACTGTTCC -3'
Posted On 2020-07-28