Incidental Mutation 'R2252:Thoc3'
ID241767
Institutional Source Beutler Lab
Gene Symbol Thoc3
Ensembl Gene ENSMUSG00000025872
Gene NameTHO complex 3
Synonyms
MMRRC Submission 040252-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #R2252 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location54458837-54468849 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54467833 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 139 (N139K)
Ref Sequence ENSEMBL: ENSMUSP00000026990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026990]
Predicted Effect probably benign
Transcript: ENSMUST00000026990
AA Change: N139K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026990
Gene: ENSMUSG00000025872
AA Change: N139K

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
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,142,612 S79F probably damaging Het
Acaca G T 11: 84,371,532 V1987L probably damaging Het
B3gnt3 A T 8: 71,692,818 M302K probably damaging Het
BC048507 T C 13: 67,863,507 M1T probably null Het
Bckdk C A 7: 127,905,418 R105S probably damaging Het
Casp3 G T 8: 46,637,955 W214L probably damaging Het
Cd180 A T 13: 102,706,398 K651* probably null Het
Cdh15 T A 8: 122,857,422 D87E probably damaging Het
Cldn24 G T 8: 47,822,328 R62S probably benign Het
Cnot1 A G 8: 95,763,186 V463A probably benign Het
Cspg4 C T 9: 56,898,046 T2047I probably damaging Het
Cul2 A T 18: 3,399,876 L3F probably damaging Het
Cwc27 A T 13: 104,631,729 H419Q probably damaging Het
Dgkg A T 16: 22,622,260 M1K probably null Het
Dock5 A T 14: 67,784,812 L1171H probably damaging Het
Drc1 G T 5: 30,342,731 V103F probably benign Het
Ep400 A T 5: 110,719,091 N1062K unknown Het
Faap20 A C 4: 155,250,553 E37A possibly damaging Het
Foxa2 A G 2: 148,044,166 F243S probably damaging Het
Gzf1 T C 2: 148,683,936 M109T probably damaging Het
Itch T A 2: 155,212,339 M701K probably benign Het
Kpna1 T C 16: 36,021,569 Y280H possibly damaging Het
L1td1 A G 4: 98,737,637 probably null Het
Lrrc37a T C 11: 103,501,467 Q1044R probably benign Het
Lrrc52 A T 1: 167,466,368 I116N probably damaging Het
Mbd5 A G 2: 49,257,686 E636G probably damaging Het
Mrpl40 T C 16: 18,875,375 H29R probably benign Het
Nrip1 T C 16: 76,291,285 Y1128C probably damaging Het
Olfr1279 A G 2: 111,306,310 Y35C probably damaging Het
Olfr143 A G 9: 38,253,830 I135V probably benign Het
Olfr958 G T 9: 39,549,977 A298D probably damaging Het
Olfr988 A G 2: 85,353,858 S23P possibly damaging Het
Pard3 A T 8: 127,610,599 E1232V probably damaging Het
Pcif1 A G 2: 164,890,879 E628G probably benign Het
Pcsk1 C A 13: 75,126,726 A478D probably benign Het
Pkd1l2 T C 8: 117,057,438 Y700C probably damaging Het
Pknox2 T C 9: 36,910,520 N270D probably benign Het
Plcb2 T C 2: 118,723,765 N69S probably benign Het
Reep1 T A 6: 71,756,442 probably null Het
Sash1 A T 10: 8,729,977 M883K probably benign Het
Secisbp2l C T 2: 125,740,737 G933D possibly damaging Het
Sept4 A G 11: 87,589,811 N405D possibly damaging Het
Serpinb3b T C 1: 107,155,478 I231M possibly damaging Het
Serping1 A G 2: 84,769,851 S322P probably damaging Het
Slc7a2 T C 8: 40,905,621 Y334H probably benign Het
Spink5 G T 18: 44,020,824 E1013* probably null Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Tubb2b T A 13: 34,130,215 I7F possibly damaging Het
Upf2 A G 2: 5,961,460 D297G unknown Het
Vmn2r18 T C 5: 151,584,976 I228V possibly damaging Het
Vmn2r98 A C 17: 19,080,436 S567R probably benign Het
Vwa5a T C 9: 38,728,080 I369T probably damaging Het
Yjefn3 A C 8: 69,889,445 F42V probably damaging Het
Zfp472 A T 17: 32,976,283 R69* probably null Het
Zfp536 T C 7: 37,479,389 S200G probably benign Het
Zfp970 T A 2: 177,474,821 probably null Het
Other mutations in Thoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Thoc3 APN 13 54467820 splice site probably benign
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
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
R8369:Thoc3 UTSW 13 54467895 missense probably damaging 1.00
Z1177:Thoc3 UTSW 13 54460186 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCGCCCATGGTTTCTCAGC -3'
(R):5'- AAGTGGCATCTGGATTCTGTTC -3'

Sequencing Primer
(F):5'- AGCCATTGTAACCTGCCTGAATC -3'
(R):5'- CATCTGGATTCTGTTCTTTTAAGGTC -3'
Posted On2014-10-16