Incidental Mutation 'IGL03210:Thoc3'
ID 413276
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 # IGL03210
Quality Score
Status
Chromosome 13
Chromosomal Location 54606650-54616653 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54614035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 196 (M196K)
Ref Sequence ENSEMBL: ENSMUSP00000026990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026990]
AlphaFold Q8VE80
Predicted Effect probably benign
Transcript: ENSMUST00000026990
AA Change: M196K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026990
Gene: ENSMUSG00000025872
AA Change: M196K

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,141,635 (GRCm39) F9L probably benign Het
Adora3 T C 3: 105,815,176 (GRCm39) S163P probably benign Het
Ark2c C A 18: 77,554,435 (GRCm39) V60L probably damaging Het
C3 G A 17: 57,522,846 (GRCm39) Q1013* probably null Het
Cacna1b A T 2: 24,540,584 (GRCm39) F1381Y probably benign Het
Dcdc2b T C 4: 129,505,578 (GRCm39) K95R probably benign Het
Dnah8 A G 17: 31,034,639 (GRCm39) E4186G probably damaging Het
Dock1 T C 7: 134,358,668 (GRCm39) V374A possibly damaging Het
Gramd2b A G 18: 56,607,170 (GRCm39) T95A probably benign Het
Grk2 C T 19: 4,337,857 (GRCm39) E508K probably benign Het
Hmgb4 A G 4: 128,154,535 (GRCm39) V11A probably benign Het
Knl1 G A 2: 118,901,098 (GRCm39) S933N probably benign Het
Ldlrad3 G A 2: 101,900,271 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,390,331 (GRCm39) Y1698F probably benign Het
Ms4a14 A G 19: 11,279,325 (GRCm39) W1078R possibly damaging Het
Nol4l G A 2: 153,371,378 (GRCm39) P102L probably benign Het
Nsun3 A G 16: 62,591,110 (GRCm39) F178L probably damaging Het
Nup85 T A 11: 115,457,462 (GRCm39) Y55N probably benign Het
Opcml A G 9: 28,812,833 (GRCm39) E175G probably damaging Het
Or10a3m T A 7: 108,312,775 (GRCm39) Y60N probably damaging Het
Or11g7 A T 14: 50,691,440 (GRCm39) R310S probably benign Het
Or9g4 T C 2: 85,504,697 (GRCm39) Y266C probably damaging Het
Pask A T 1: 93,247,714 (GRCm39) W1074R possibly damaging Het
Pdzrn3 T C 6: 101,133,913 (GRCm39) T439A possibly damaging Het
Pkd1l1 C A 11: 8,915,127 (GRCm39) V138L unknown Het
Ptprj C A 2: 90,300,070 (GRCm39) V244L probably benign Het
Rapgef5 A G 12: 117,706,607 (GRCm39) K697E probably damaging Het
Rp9 G T 9: 22,368,724 (GRCm39) H78Q probably benign Het
Serpinb8 A G 1: 107,530,641 (GRCm39) T140A probably damaging Het
Slc29a4 A T 5: 142,700,863 (GRCm39) M203L probably damaging Het
Stag1 T A 9: 100,727,129 (GRCm39) L363I possibly damaging Het
Susd1 T G 4: 59,333,035 (GRCm39) probably null Het
Tnr A G 1: 159,715,880 (GRCm39) T881A probably benign Het
Ttbk2 A G 2: 120,652,973 (GRCm39) V17A probably damaging Het
Ttc41 T A 10: 86,560,278 (GRCm39) probably null Het
Utp14b A G 1: 78,643,268 (GRCm39) M389V probably benign Het
Utp4 T A 8: 107,642,888 (GRCm39) H515Q probably benign Het
Xpo1 A G 11: 23,228,834 (GRCm39) H223R probably benign Het
Xpot A G 10: 121,451,132 (GRCm39) probably benign Het
Zfp455 A T 13: 67,355,113 (GRCm39) H127L possibly damaging Het
Zscan4e T A 7: 11,041,459 (GRCm39) M166L probably benign 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
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 2016-08-02