Incidental Mutation 'R5722:Thoc3'
ID 452285
Institutional Source Beutler Lab
Gene Symbol Thoc3
Ensembl Gene ENSMUSG00000025872
Gene Name THO complex 3
Synonyms 2410044K02Rik
MMRRC Submission 043340-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5722 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 54606650-54616653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54608014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 310 (T310N)
Ref Sequence ENSEMBL: ENSMUSP00000026990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026990]
AlphaFold Q8VE80
Predicted Effect probably damaging
Transcript: ENSMUST00000026990
AA Change: T310N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026990
Gene: ENSMUSG00000025872
AA Change: T310N

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G A 3: 32,772,194 (GRCm39) R164H probably damaging Het
Afg3l2 A G 18: 67,573,269 (GRCm39) Y178H probably benign Het
Agtr1a A G 13: 30,566,016 (GRCm39) *360W probably null Het
Arfgef1 A G 1: 10,209,109 (GRCm39) V1830A probably benign Het
Asic2 A T 11: 81,858,806 (GRCm39) S69T probably benign Het
Axin1 A T 17: 26,401,531 (GRCm39) N368Y probably damaging Het
Brme1 A G 8: 84,898,473 (GRCm39) E537G probably damaging Het
Ces1d G A 8: 93,904,756 (GRCm39) P328L probably benign Het
Cndp2 T A 18: 84,686,203 (GRCm39) K461* probably null Het
Cntnap5c A T 17: 58,620,852 (GRCm39) H977L probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glg1 T C 8: 111,896,194 (GRCm39) T177A possibly damaging Het
Gm7168 T C 17: 14,169,824 (GRCm39) V397A probably benign Het
Hif1a T A 12: 73,988,533 (GRCm39) D535E probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ice1 T C 13: 70,763,219 (GRCm39) E173G possibly damaging Het
Ighmbp2 A G 19: 3,329,909 (GRCm39) V115A probably damaging Het
Irf2 A T 8: 47,271,831 (GRCm39) E101D possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kyat1 C T 2: 30,078,123 (GRCm39) C127Y probably damaging Het
Mrgpra4 T C 7: 47,630,755 (GRCm39) H282R probably benign Het
Npsr1 C A 9: 24,225,096 (GRCm39) P368Q probably damaging Het
Nwd1 G A 8: 73,401,872 (GRCm39) V839M probably damaging Het
Or51a43 T A 7: 103,717,930 (GRCm39) M103L probably damaging Het
Or6n2 G T 1: 173,897,436 (GRCm39) D191Y probably damaging Het
P4ha3 A G 7: 99,955,198 (GRCm39) D351G probably benign Het
Pard3b T A 1: 62,479,160 (GRCm39) probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pik3c2b G T 1: 133,031,574 (GRCm39) G1505W probably damaging Het
Plppr5 A T 3: 117,414,714 (GRCm39) I112L probably benign Het
Potefam1 T A 2: 111,034,468 (GRCm39) T355S probably benign Het
Ptprq A G 10: 107,522,226 (GRCm39) I575T possibly damaging Het
Ranbp3l A G 15: 9,029,656 (GRCm39) E46G probably damaging Het
Rbm46 A G 3: 82,772,640 (GRCm39) V164A possibly damaging Het
Sap25 A G 5: 137,639,713 (GRCm39) E13G probably benign Het
Setbp1 A T 18: 78,899,860 (GRCm39) V1269E possibly damaging Het
Smgc T A 15: 91,726,109 (GRCm39) S18R possibly damaging Het
Snrk T C 9: 121,993,072 (GRCm39) I345T probably benign Het
Sp4 T A 12: 118,262,976 (GRCm39) I357F possibly damaging Het
Sra1 A G 18: 36,808,031 (GRCm39) L399P probably damaging Het
Stat6 A G 10: 127,494,242 (GRCm39) T658A probably benign Het
Sv2a G A 3: 96,092,339 (GRCm39) R13H probably benign Het
Tox3 A C 8: 91,074,489 (GRCm39) probably null Het
Trpc6 A G 9: 8,680,550 (GRCm39) E848G possibly damaging Het
Ttn T A 2: 76,538,590 (GRCm39) T34703S possibly damaging Het
Ttn T C 2: 76,776,312 (GRCm39) I1577V probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Ugt2b36 C T 5: 87,240,297 (GRCm39) W29* probably null Het
Wdr17 C T 8: 55,113,806 (GRCm39) probably null Het
Zfp790 C A 7: 29,529,514 (GRCm39) S733* probably null Het
Other mutations in Thoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Thoc3 APN 13 54,615,633 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TAGGTAGCCCAAATAGTCCGC -3'
(R):5'- TTCAGTAAGGACAGGCTGTCTG -3'

Sequencing Primer
(F):5'- AAATAGTCCGCCCGGCCTC -3'
(R):5'- CAGGCTGTCTGTAAGGTGC -3'
Posted On 2017-01-03