Incidental Mutation 'IGL01083:Thoc3'
ID 52545
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 # IGL01083
Quality Score
Status
Chromosome 13
Chromosomal Location 54606650-54616653 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 54615633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026990]
AlphaFold Q8VE80
Predicted Effect probably benign
Transcript: ENSMUST00000026990
SMART Domains Protein: ENSMUSP00000026990
Gene: ENSMUSG00000025872

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: ENSMUST00000135404
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,659,191 (GRCm39) D533G probably benign Het
Adgb A G 10: 10,283,298 (GRCm39) V136A possibly damaging Het
Aggf1 A G 13: 95,492,917 (GRCm39) V564A probably damaging Het
Atp1a2 T C 1: 172,112,186 (GRCm39) T570A probably benign Het
Bicdl2 A G 17: 23,887,105 (GRCm39) Q464R probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Chd8 C A 14: 52,458,877 (GRCm39) R792L probably damaging Het
Crybg2 A T 4: 133,802,755 (GRCm39) I844F possibly damaging Het
Dock4 G A 12: 40,838,380 (GRCm39) probably benign Het
Ergic2 T C 6: 148,096,769 (GRCm39) T166A probably benign Het
Flrt2 A T 12: 95,747,121 (GRCm39) R486S probably benign Het
Flt3 T C 5: 147,291,680 (GRCm39) Y590C probably damaging Het
Fubp1 A G 3: 151,927,871 (GRCm39) E441G probably damaging Het
Gfpt1 A G 6: 87,031,678 (GRCm39) S107G probably damaging Het
Klra9 A G 6: 130,166,729 (GRCm39) L45P possibly damaging Het
Mfsd5 A G 15: 102,189,525 (GRCm39) Y299C probably damaging Het
Myo5b T A 18: 74,866,974 (GRCm39) probably benign Het
Obscn G A 11: 58,926,919 (GRCm39) T5532M probably damaging Het
Or5ac25 G A 16: 59,182,198 (GRCm39) P128S probably damaging Het
Palld A G 8: 61,991,841 (GRCm39) S165P probably benign Het
Pramel17 T A 4: 101,692,729 (GRCm39) M424L probably benign Het
Prokr1 A T 6: 87,565,766 (GRCm39) H26Q probably benign Het
Prrc2a G T 17: 35,375,177 (GRCm39) R1158S possibly damaging Het
Rasgrp1 A G 2: 117,115,549 (GRCm39) W680R probably benign Het
Ryr3 A G 2: 112,582,191 (GRCm39) probably benign Het
Sars1 A G 3: 108,334,174 (GRCm39) L528P probably damaging Het
Serpinb3b T A 1: 107,085,473 (GRCm39) L89F possibly damaging Het
Slc38a6 T C 12: 73,335,267 (GRCm39) V70A possibly damaging Het
Son G A 16: 91,454,279 (GRCm39) E1009K probably damaging Het
Tlk2 T A 11: 105,112,050 (GRCm39) C88S probably benign Het
Tmem182 T A 1: 40,844,977 (GRCm39) F21Y probably damaging Het
Tmem214 G A 5: 31,033,437 (GRCm39) V557M probably benign Het
Zfp507 T C 7: 35,493,463 (GRCm39) T527A probably benign Het
Other mutations in Thoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02811:Thoc3 APN 13 54,607,988 (GRCm39) missense probably benign 0.24
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 2013-06-21