Incidental Mutation 'IGL01083:Thoc3'
ID52545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thoc3
Ensembl Gene ENSMUSG00000025872
Gene NameTHO complex 3
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL01083
Quality Score
Status
Chromosome13
Chromosomal Location54458837-54468849 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 54467820 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026990]
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: 64,787,342 D533G probably benign Het
Adgb A G 10: 10,407,554 V136A possibly damaging Het
Aggf1 A G 13: 95,356,409 V564A probably damaging Het
Atp1a2 T C 1: 172,284,619 T570A probably benign Het
B020004J07Rik T A 4: 101,835,532 M424L probably benign Het
Bicdl2 A G 17: 23,668,131 Q464R probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Chd8 C A 14: 52,221,420 R792L probably damaging Het
Crybg2 A T 4: 134,075,444 I844F possibly damaging Het
Dock4 G A 12: 40,788,381 probably benign Het
Ergic2 T C 6: 148,195,271 T166A probably benign Het
Flrt2 A T 12: 95,780,347 R486S probably benign Het
Flt3 T C 5: 147,354,870 Y590C probably damaging Het
Fubp1 A G 3: 152,222,234 E441G probably damaging Het
Gfpt1 A G 6: 87,054,696 S107G probably damaging Het
Klra9 A G 6: 130,189,766 L45P possibly damaging Het
Mfsd5 A G 15: 102,281,090 Y299C probably damaging Het
Myo5b T A 18: 74,733,903 probably benign Het
Obscn G A 11: 59,036,093 T5532M probably damaging Het
Olfr209 G A 16: 59,361,835 P128S probably damaging Het
Palld A G 8: 61,538,807 S165P probably benign Het
Prokr1 A T 6: 87,588,784 H26Q probably benign Het
Prrc2a G T 17: 35,156,201 R1158S possibly damaging Het
Rasgrp1 A G 2: 117,285,068 W680R probably benign Het
Ryr3 A G 2: 112,751,846 probably benign Het
Sars A G 3: 108,426,858 L528P probably damaging Het
Serpinb3b T A 1: 107,157,743 L89F possibly damaging Het
Slc38a6 T C 12: 73,288,493 V70A possibly damaging Het
Son G A 16: 91,657,391 E1009K probably damaging Het
Tlk2 T A 11: 105,221,224 C88S probably benign Het
Tmem182 T A 1: 40,805,817 F21Y probably damaging Het
Tmem214 G A 5: 30,876,093 V557M probably benign Het
Zfp507 T C 7: 35,794,038 T527A probably benign Het
Other mutations in Thoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02811:Thoc3 APN 13 54460175 missense probably benign 0.24
IGL03210:Thoc3 APN 13 54466222 missense probably benign 0.00
R1512:Thoc3 UTSW 13 54466178 critical splice donor site probably null
R2252:Thoc3 UTSW 13 54467833 missense probably benign 0.00
R4133:Thoc3 UTSW 13 54468548 missense probably benign 0.16
R5686:Thoc3 UTSW 13 54467873 missense probably damaging 0.99
R5722:Thoc3 UTSW 13 54460201 missense probably damaging 1.00
R6225:Thoc3 UTSW 13 54467972 missense probably benign 0.04
R7088:Thoc3 UTSW 13 54463752 missense probably damaging 1.00
R7098:Thoc3 UTSW 13 54466306 missense probably damaging 0.98
R7662:Thoc3 UTSW 13 54463804 missense probably damaging 1.00
R7778:Thoc3 UTSW 13 54463778 missense probably damaging 1.00
R7824:Thoc3 UTSW 13 54463778 missense probably damaging 1.00
Posted On2013-06-21