Incidental Mutation 'IGL00481:Thoc2'
ID3133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thoc2
Ensembl Gene ENSMUSG00000037475
Gene NameTHO complex 2
SynonymsLOC382210, 6330441O12Rik, LOC386493, D130005M13Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00481
Quality Score
Status
ChromosomeX
Chromosomal Location41794991-41920674 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41879891 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 76 (I76T)
Ref Sequence ENSEMBL: ENSMUSP00000114148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047037] [ENSMUST00000129915] [ENSMUST00000131259] [ENSMUST00000152921]
Predicted Effect probably benign
Transcript: ENSMUST00000047037
AA Change: I90T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000044677
Gene: ENSMUSG00000037475
AA Change: I90T

DomainStartEndE-ValueType
Pfam:THOC2_N 8 422 5.6e-66 PFAM
Pfam:THOC2_N 415 566 2.1e-31 PFAM
Pfam:Thoc2 568 643 1.3e-39 PFAM
low complexity region 729 747 N/A INTRINSIC
Pfam:Tho2 873 1173 3.3e-109 PFAM
low complexity region 1203 1219 N/A INTRINSIC
low complexity region 1251 1284 N/A INTRINSIC
low complexity region 1300 1313 N/A INTRINSIC
low complexity region 1323 1343 N/A INTRINSIC
low complexity region 1356 1367 N/A INTRINSIC
coiled coil region 1464 1491 N/A INTRINSIC
low complexity region 1525 1553 N/A INTRINSIC
low complexity region 1566 1574 N/A INTRINSIC
low complexity region 1577 1590 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127338
Predicted Effect possibly damaging
Transcript: ENSMUST00000129915
AA Change: I95T

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000131259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151454
Predicted Effect possibly damaging
Transcript: ENSMUST00000152921
AA Change: I76T

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A G 11: 29,824,755 L234P probably damaging Het
9230110C19Rik T C 9: 8,042,431 Y57C probably damaging Het
Abca13 T C 11: 9,290,969 L944P probably damaging Het
Akap13 A G 7: 75,723,895 S1885G probably damaging Het
Aqp3 A G 4: 41,093,632 Y261H probably damaging Het
Arap2 A T 5: 62,635,962 N1380K probably damaging Het
Arntl2 T A 6: 146,809,666 M56K probably benign Het
Barx2 T C 9: 31,846,845 I266V unknown Het
BC034090 C T 1: 155,232,521 R360H probably benign Het
Ccnb2 T C 9: 70,418,907 K52E probably damaging Het
Ccp110 G A 7: 118,729,997 V868I possibly damaging Het
Cyld G T 8: 88,707,290 V236F probably damaging Het
Dst T C 1: 34,169,329 probably benign Het
Ehmt1 G T 2: 24,838,818 A637E possibly damaging Het
Erlin1 G T 19: 44,069,319 Y22* probably null Het
Ezh1 A T 11: 101,199,302 M539K possibly damaging Het
Fam160b1 A G 19: 57,381,345 E440G probably benign Het
Fancc A T 13: 63,400,245 I80N probably damaging Het
Fat1 G A 8: 45,050,940 S4447N probably benign Het
Frem3 A G 8: 80,668,810 Q1822R possibly damaging Het
Iqgap1 C T 7: 80,759,844 V248I probably benign Het
Itch T C 2: 155,213,023 I749T probably damaging Het
Kcna10 T A 3: 107,195,514 M487K probably benign Het
Krt83 A T 15: 101,488,211 L223Q probably benign Het
Mtmr2 T C 9: 13,785,916 I84T probably benign Het
Myocd G A 11: 65,187,154 T477M probably damaging Het
Nfic A T 10: 81,408,220 V240E possibly damaging Het
Olfr463 A G 11: 87,893,621 I101T possibly damaging Het
Prkdc A T 16: 15,790,466 Y3044F probably benign Het
Prkg1 A G 19: 30,571,622 I636T probably benign Het
Ptpru A G 4: 131,808,235 V477A probably benign Het
Rab7b T A 1: 131,698,591 M119K possibly damaging Het
Sec61a1 T C 6: 88,506,940 probably benign Het
Sectm1b A G 11: 121,055,973 V32A probably benign Het
Shroom2 A G X: 152,623,223 S1034P probably benign Het
Sipa1l3 A T 7: 29,386,108 I688N probably damaging Het
Slc24a1 T C 9: 64,928,019 Y942C probably damaging Het
Smg1 C T 7: 118,210,794 R139K possibly damaging Het
Stt3b G A 9: 115,251,847 T574I probably benign Het
Tpm3 C T 3: 90,087,717 T180M probably damaging Het
Uqcrfs1 C A 13: 30,540,925 V211F probably benign Het
Usp47 A G 7: 112,074,783 S418G probably benign Het
Usp5 T C 6: 124,829,353 T15A probably benign Het
Vps13c T C 9: 67,860,865 L122P probably damaging Het
Zfp677 A T 17: 21,397,668 E329V probably benign Het
Zfyve16 A T 13: 92,516,538 N846K possibly damaging Het
Zp1 G T 19: 10,918,777 P195T probably damaging Het
Other mutations in Thoc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Thoc2 APN X 41827346 missense probably benign 0.05
IGL02377:Thoc2 APN X 41825478 missense possibly damaging 0.73
R0079:Thoc2 UTSW X 41864108 missense probably benign 0.19
R5069:Thoc2 UTSW X 41806693 missense probably damaging 1.00
Posted On2012-04-20