Incidental Mutation 'IGL02811:Thoc3'
ID 360590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thoc3
Ensembl Gene ENSMUSG00000025872
Gene Name THO complex 3
Synonyms 2410044K02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL02811
Quality Score
Status
Chromosome 13
Chromosomal Location 54606650-54616653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54607988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 319 (R319G)
Ref Sequence ENSEMBL: ENSMUSP00000026990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026990]
AlphaFold Q8VE80
Predicted Effect probably benign
Transcript: ENSMUST00000026990
AA Change: R319G

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000026990
Gene: ENSMUSG00000025872
AA Change: R319G

DomainStartEndE-ValueType
WD40 44 83 3.1e-8 SMART
WD40 88 128 1.3e-11 SMART
WD40 131 169 1.7e-3 SMART
Blast:WD40 172 210 1e-16 BLAST
WD40 213 252 3.8e-10 SMART
WD40 255 294 1.1e-3 SMART
WD40 297 346 1.4e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151158
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 component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 C T 13: 4,562,682 (GRCm39) R90H possibly damaging Het
BC048679 A T 7: 81,144,937 (GRCm39) probably benign Het
Chd6 T C 2: 160,832,221 (GRCm39) R984G probably damaging Het
Cobl A G 11: 12,203,285 (GRCm39) I1139T possibly damaging Het
Coq3 A G 4: 21,900,273 (GRCm39) R167G probably damaging Het
Crim1 A G 17: 78,658,130 (GRCm39) K670E possibly damaging Het
Crtac1 T C 19: 42,322,350 (GRCm39) E130G probably damaging Het
Dcbld1 A G 10: 52,196,069 (GRCm39) T426A probably benign Het
Dimt1 T C 13: 107,084,175 (GRCm39) probably benign Het
Dnal1 G A 12: 84,178,166 (GRCm39) probably null Het
Fes T C 7: 80,029,589 (GRCm39) Y631C probably damaging Het
Hemk1 A T 9: 107,208,750 (GRCm39) V149E probably benign Het
Itga6 T C 2: 71,657,076 (GRCm39) V397A probably damaging Het
Kmt2c A T 5: 25,520,026 (GRCm39) L2028* probably null Het
Krt33b C A 11: 99,920,395 (GRCm39) C86F probably benign Het
Lmx1a A G 1: 167,618,943 (GRCm39) I101V probably benign Het
Mlh1 A G 9: 111,100,582 (GRCm39) V4A probably benign Het
Mroh2b A G 15: 4,944,718 (GRCm39) I440V possibly damaging Het
Mrpl35 A G 6: 71,795,804 (GRCm39) Y28H probably benign Het
Oas3 C A 5: 120,902,387 (GRCm39) E636D unknown Het
Olfm4 T A 14: 80,259,113 (GRCm39) S454T probably damaging Het
Or4l15 T A 14: 50,197,590 (GRCm39) probably benign Het
Or52ab2 T C 7: 102,970,140 (GRCm39) I174T probably benign Het
Otoa G T 7: 120,717,878 (GRCm39) G365V possibly damaging Het
Pdgfrl G T 8: 41,430,005 (GRCm39) R124L probably damaging Het
Rcbtb2 T A 14: 73,411,851 (GRCm39) V380E probably damaging Het
Rufy2 A G 10: 62,836,106 (GRCm39) D345G probably damaging Het
Shq1 A T 6: 100,607,945 (GRCm39) I322N probably damaging Het
Skint4 C A 4: 111,944,200 (GRCm39) T4K possibly damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tbc1d5 A G 17: 51,107,149 (GRCm39) I469T probably damaging Het
Tmem63a A G 1: 180,793,348 (GRCm39) I507M probably damaging Het
Usp40 A T 1: 87,923,458 (GRCm39) I271N probably damaging Het
Vps13d T C 4: 144,858,335 (GRCm39) D2157G possibly damaging Het
Vwa8 T A 14: 79,231,899 (GRCm39) V586D probably benign Het
Other mutations in Thoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Thoc3 APN 13 54,615,633 (GRCm39) splice site probably benign
IGL03210:Thoc3 APN 13 54,614,035 (GRCm39) missense probably benign 0.00
R1512:Thoc3 UTSW 13 54,613,991 (GRCm39) critical splice donor site probably null
R2252:Thoc3 UTSW 13 54,615,646 (GRCm39) missense probably benign 0.00
R4133:Thoc3 UTSW 13 54,616,361 (GRCm39) missense probably benign 0.16
R5686:Thoc3 UTSW 13 54,615,686 (GRCm39) missense probably damaging 0.99
R5722:Thoc3 UTSW 13 54,608,014 (GRCm39) missense probably damaging 1.00
R6225:Thoc3 UTSW 13 54,615,785 (GRCm39) missense probably benign 0.04
R7088:Thoc3 UTSW 13 54,611,565 (GRCm39) missense probably damaging 1.00
R7098:Thoc3 UTSW 13 54,614,119 (GRCm39) missense probably damaging 0.98
R7662:Thoc3 UTSW 13 54,611,617 (GRCm39) missense probably damaging 1.00
R7778:Thoc3 UTSW 13 54,611,591 (GRCm39) missense probably damaging 1.00
R7824:Thoc3 UTSW 13 54,611,591 (GRCm39) missense probably damaging 1.00
R8369:Thoc3 UTSW 13 54,615,708 (GRCm39) missense probably damaging 1.00
R8987:Thoc3 UTSW 13 54,615,708 (GRCm39) missense possibly damaging 0.96
R9305:Thoc3 UTSW 13 54,607,998 (GRCm39) nonsense probably null
Z1177:Thoc3 UTSW 13 54,607,999 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18