Incidental Mutation 'IGL02873:Trmu'
ID362625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trmu
Ensembl Gene ENSMUSG00000022386
Gene NametRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
Synonyms1600025P05Rik, Trmt1, 1110005N20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.183) question?
Stock #IGL02873
Quality Score
Status
Chromosome15
Chromosomal Location85879312-85897394 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 85896832 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016172] [ENSMUST00000023019] [ENSMUST00000023019] [ENSMUST00000023019] [ENSMUST00000162491]
Predicted Effect probably benign
Transcript: ENSMUST00000016172
SMART Domains Protein: ENSMUSP00000016172
Gene: ENSMUSG00000016028

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 65 93 N/A INTRINSIC
low complexity region 221 240 N/A INTRINSIC
low complexity region 243 257 N/A INTRINSIC
CA 282 366 9.51e-26 SMART
CA 390 472 1.59e-27 SMART
CA 496 578 3.8e-25 SMART
CA 602 700 2.25e-27 SMART
CA 724 802 3.14e-17 SMART
CA 826 905 2.67e-29 SMART
CA 929 1012 3.23e-28 SMART
CA 1036 1114 4.17e-22 SMART
CA 1142 1218 6.89e-1 SMART
EGF 1321 1376 3.38e-3 SMART
EGF 1381 1414 5.49e-3 SMART
EGF 1421 1456 9.7e-4 SMART
LamG 1477 1644 2.53e-33 SMART
EGF 1667 1700 6.4e-4 SMART
LamG 1726 1864 1.13e-21 SMART
EGF 1890 1923 1.84e-4 SMART
EGF 1925 1961 5.49e-3 SMART
EGF_Lam 2018 2063 7.12e-11 SMART
HormR 2066 2128 2.55e-20 SMART
Pfam:GAIN 2140 2396 1.1e-64 PFAM
GPS 2422 2475 5.03e-22 SMART
Pfam:7tm_2 2480 2712 2.6e-60 PFAM
low complexity region 2738 2753 N/A INTRINSIC
low complexity region 2819 2852 N/A INTRINSIC
low complexity region 2976 2988 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000023019
SMART Domains Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386

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 probably null
Transcript: ENSMUST00000023019
SMART Domains Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386

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 probably null
Transcript: ENSMUST00000023019
SMART Domains Protein: ENSMUSP00000023019
Gene: ENSMUSG00000022386

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: ENSMUST00000159362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162010
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
SMART Domains Protein: ENSMUSP00000125704
Gene: ENSMUSG00000022386

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 probably benign
Transcript: ENSMUST00000226204
Predicted Effect probably benign
Transcript: ENSMUST00000226840
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,327,040 L528P probably damaging Het
4933405O20Rik A T 7: 50,599,683 H155L probably damaging Het
5830462I19Rik G A 9: 110,374,378 probably benign Het
Ankib1 T A 5: 3,772,619 Q29L probably damaging Het
Arid5b A T 10: 68,101,950 M449K probably benign Het
Atp1a1 A G 3: 101,576,578 V1017A probably benign Het
Cfap52 G T 11: 67,931,782 T421K probably damaging Het
Chd8 A T 14: 52,222,513 I780N probably damaging Het
Cubn T C 2: 13,294,370 D3164G probably benign Het
Cyp4f37 A T 17: 32,625,168 Q82L probably benign Het
Eml6 T A 11: 29,880,700 D265V probably benign Het
Gm14393 T C 2: 175,061,802 D104G possibly damaging Het
Gpat2 T C 2: 127,431,755 V271A probably benign Het
Ifna4 T C 4: 88,842,186 F109S probably damaging Het
Il27ra T C 8: 84,031,535 S529G probably benign Het
Jag2 A G 12: 112,910,502 L1011P probably benign Het
Kif7 A G 7: 79,706,759 L728P probably damaging Het
Klhl21 T C 4: 152,015,360 V509A probably benign Het
Map2k4 T A 11: 65,719,574 N92I probably damaging Het
Myo15 A T 11: 60,483,482 D1288V probably damaging Het
Olfr1002 C A 2: 85,647,752 A190S possibly damaging Het
Olfr1281 T C 2: 111,328,872 V151A probably benign Het
Paip1 T A 13: 119,445,812 F275L possibly damaging Het
Plxnd1 T C 6: 115,959,976 D1624G probably damaging Het
Ppwd1 C A 13: 104,209,753 D465Y probably damaging Het
Rftn1 A C 17: 50,169,152 probably benign Het
Scn1b T A 7: 31,117,757 Y180F probably damaging Het
Slc16a4 A G 3: 107,300,795 D207G probably benign Het
Slc2a3 T C 6: 122,740,414 T28A probably damaging Het
Slc47a1 G A 11: 61,362,817 probably benign Het
Spata1 A T 3: 146,487,367 V123D possibly damaging Het
Stard9 T C 2: 120,713,807 V4469A probably damaging Het
Trrap T A 5: 144,841,079 probably benign Het
Ttn T C 2: 76,896,131 probably benign Het
Tubgcp6 T C 15: 89,103,824 D974G probably benign Het
Tyw1 C T 5: 130,335,330 R621C probably benign Het
Usp7 A T 16: 8,695,194 probably benign Het
Zfp39 T C 11: 58,891,022 K305E probably benign Het
Zfp692 C T 11: 58,308,939 T118M probably damaging Het
Other mutations in Trmu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Trmu APN 15 85882831 missense probably benign 0.00
IGL03375:Trmu APN 15 85894937 missense possibly damaging 0.65
R0592:Trmu UTSW 15 85896826 unclassified probably benign
R0781:Trmu UTSW 15 85879403 nonsense probably null
R1120:Trmu UTSW 15 85890285 missense possibly damaging 0.75
R1165:Trmu UTSW 15 85892674 missense probably damaging 0.99
R1443:Trmu UTSW 15 85897101 unclassified probably null
R1503:Trmu UTSW 15 85895019 missense possibly damaging 0.88
R4626:Trmu UTSW 15 85894985 missense possibly damaging 0.96
R4790:Trmu UTSW 15 85882805 missense probably damaging 1.00
R5134:Trmu UTSW 15 85896355 splice site probably null
R5399:Trmu UTSW 15 85896408 unclassified probably null
R5639:Trmu UTSW 15 85882698 missense probably damaging 1.00
R6831:Trmu UTSW 15 85895006 missense probably benign
RF007:Trmu UTSW 15 85892569 missense possibly damaging 0.93
Posted On2015-12-18