Incidental Mutation 'R6232:Thoc6'
ID 504711
Institutional Source Beutler Lab
Gene Symbol Thoc6
Ensembl Gene ENSMUSG00000041319
Gene Name THO complex 6
Synonyms Wdr58, F830014G06Rik
MMRRC Submission 044360-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6232 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 23887588-23892856 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 23889295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000024697] [ENSMUST00000047436] [ENSMUST00000047436] [ENSMUST00000047436] [ENSMUST00000062967] [ENSMUST00000095579] [ENSMUST00000095579] [ENSMUST00000095579] [ENSMUST00000115489] [ENSMUST00000115489] [ENSMUST00000115489] [ENSMUST00000115490] [ENSMUST00000115490] [ENSMUST00000115490] [ENSMUST00000180140] [ENSMUST00000138190] [ENSMUST00000179928]
AlphaFold Q5U4D9
Predicted Effect probably benign
Transcript: ENSMUST00000024697
SMART Domains Protein: ENSMUSP00000024697
Gene: ENSMUSG00000023904

DomainStartEndE-ValueType
Pfam:HPIP 2 116 7e-72 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000047436
SMART Domains Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 13 51 2e-18 BLAST
WD40 65 101 2.67e-1 SMART
Blast:WD40 119 154 1e-11 BLAST
WD40 157 196 1.28e-6 SMART
Blast:WD40 200 245 2e-25 BLAST
WD40 248 284 7.36e1 SMART
low complexity region 294 305 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000047436
SMART Domains Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 13 51 2e-18 BLAST
WD40 65 101 2.67e-1 SMART
Blast:WD40 119 154 1e-11 BLAST
WD40 157 196 1.28e-6 SMART
Blast:WD40 200 245 2e-25 BLAST
WD40 248 284 7.36e1 SMART
low complexity region 294 305 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000047436
SMART Domains Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 13 51 2e-18 BLAST
WD40 65 101 2.67e-1 SMART
Blast:WD40 119 154 1e-11 BLAST
WD40 157 196 1.28e-6 SMART
Blast:WD40 200 245 2e-25 BLAST
WD40 248 284 7.36e1 SMART
low complexity region 294 305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062967
SMART Domains Protein: ENSMUSP00000053808
Gene: ENSMUSG00000043782

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
coiled coil region 63 293 N/A INTRINSIC
low complexity region 304 312 N/A INTRINSIC
coiled coil region 354 461 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000095579
SMART Domains Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 13 51 2e-18 BLAST
WD40 65 101 2.67e-1 SMART
Blast:WD40 119 154 1e-11 BLAST
WD40 157 196 1.28e-6 SMART
Blast:WD40 200 245 2e-25 BLAST
WD40 248 284 7.36e1 SMART
low complexity region 294 305 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000095579
SMART Domains Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 13 51 2e-18 BLAST
WD40 65 101 2.67e-1 SMART
Blast:WD40 119 154 1e-11 BLAST
WD40 157 196 1.28e-6 SMART
Blast:WD40 200 245 2e-25 BLAST
WD40 248 284 7.36e1 SMART
low complexity region 294 305 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000095579
SMART Domains Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 13 51 2e-18 BLAST
WD40 65 101 2.67e-1 SMART
Blast:WD40 119 154 1e-11 BLAST
WD40 157 196 1.28e-6 SMART
Blast:WD40 200 245 2e-25 BLAST
WD40 248 284 7.36e1 SMART
low complexity region 294 305 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115489
SMART Domains Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 11 47 6e-18 BLAST
WD40 61 97 2.67e-1 SMART
Blast:WD40 115 150 8e-12 BLAST
WD40 153 192 1.28e-6 SMART
Blast:WD40 196 241 3e-25 BLAST
WD40 244 280 7.36e1 SMART
low complexity region 290 301 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115489
SMART Domains Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 11 47 6e-18 BLAST
WD40 61 97 2.67e-1 SMART
Blast:WD40 115 150 8e-12 BLAST
WD40 153 192 1.28e-6 SMART
Blast:WD40 196 241 3e-25 BLAST
WD40 244 280 7.36e1 SMART
low complexity region 290 301 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115489
SMART Domains Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 11 47 6e-18 BLAST
WD40 61 97 2.67e-1 SMART
Blast:WD40 115 150 8e-12 BLAST
WD40 153 192 1.28e-6 SMART
Blast:WD40 196 241 3e-25 BLAST
WD40 244 280 7.36e1 SMART
low complexity region 290 301 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115490
SMART Domains Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 13 51 7e-19 BLAST
WD40 65 101 2.67e-1 SMART
Blast:WD40 119 154 6e-12 BLAST
WD40 157 196 1.28e-6 SMART
Blast:WD40 200 245 8e-26 BLAST
Blast:WD40 248 279 4e-10 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000115490
SMART Domains Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 13 51 7e-19 BLAST
WD40 65 101 2.67e-1 SMART
Blast:WD40 119 154 6e-12 BLAST
WD40 157 196 1.28e-6 SMART
Blast:WD40 200 245 8e-26 BLAST
Blast:WD40 248 279 4e-10 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000115490
SMART Domains Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 13 51 7e-19 BLAST
WD40 65 101 2.67e-1 SMART
Blast:WD40 119 154 6e-12 BLAST
WD40 157 196 1.28e-6 SMART
Blast:WD40 200 245 8e-26 BLAST
Blast:WD40 248 279 4e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125443
Predicted Effect probably null
Transcript: ENSMUST00000135259
SMART Domains Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 32 67 9e-13 BLAST
WD40 70 109 1.28e-6 SMART
Blast:WD40 113 186 4e-20 BLAST
Blast:WD40 189 209 2e-6 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000135259
SMART Domains Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 32 67 9e-13 BLAST
WD40 70 109 1.28e-6 SMART
Blast:WD40 113 186 4e-20 BLAST
Blast:WD40 189 209 2e-6 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000135259
SMART Domains Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 32 67 9e-13 BLAST
WD40 70 109 1.28e-6 SMART
Blast:WD40 113 186 4e-20 BLAST
Blast:WD40 189 209 2e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133849
Predicted Effect probably benign
Transcript: ENSMUST00000180140
SMART Domains Protein: ENSMUSP00000137336
Gene: ENSMUSG00000023904

DomainStartEndE-ValueType
Pfam:HPIP 2 116 2.9e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138190
SMART Domains Protein: ENSMUSP00000123075
Gene: ENSMUSG00000041319

DomainStartEndE-ValueType
Blast:WD40 13 51 6e-20 BLAST
WD40 65 101 2.67e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179928
SMART Domains Protein: ENSMUSP00000137205
Gene: ENSMUSG00000023904

DomainStartEndE-ValueType
Pfam:HPIP 2 112 3.3e-69 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency 94% (64/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,268,933 (GRCm39) V198A possibly damaging Het
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgra2 A T 8: 27,609,193 (GRCm39) M805L probably benign Het
Arhgap39 T C 15: 76,620,712 (GRCm39) S630G probably damaging Het
Bcl3 T A 7: 19,546,409 (GRCm39) N142I probably damaging Het
Cfap210 C T 2: 69,602,398 (GRCm39) E338K possibly damaging Het
Chuk A T 19: 44,085,431 (GRCm39) D238E probably benign Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Cyp2j8 A T 4: 96,395,427 (GRCm39) L66Q possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dst T A 1: 34,227,253 (GRCm39) D1290E probably damaging Het
Dysf T C 6: 84,075,235 (GRCm39) I583T probably benign Het
Eif1ad13 A T 12: 87,762,351 (GRCm39) R24* probably null Het
Fbxl2 T A 9: 113,815,516 (GRCm39) D249V probably damaging Het
Fbxo30 A T 10: 11,165,602 (GRCm39) Y108F possibly damaging Het
Fibin G T 2: 110,193,041 (GRCm39) H34N probably damaging Het
Gabrr1 A G 4: 33,161,632 (GRCm39) I319V probably benign Het
Gfm1 G T 3: 67,375,215 (GRCm39) L559F possibly damaging Het
Gm5134 T A 10: 75,821,859 (GRCm39) L231Q possibly damaging Het
Grm5 A G 7: 87,251,638 (GRCm39) probably benign Het
Hbs1l T A 10: 21,183,657 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Inpp4b A G 8: 82,678,813 (GRCm39) Q281R probably damaging Het
Krt40 G A 11: 99,433,920 (GRCm39) A22V possibly damaging Het
Ldlrap1 C T 4: 134,486,345 (GRCm39) R38Q possibly damaging Het
Lepr A G 4: 101,671,588 (GRCm39) probably null Het
Map3k12 A G 15: 102,412,081 (GRCm39) S328P probably damaging Het
Mrpl2 T C 17: 46,958,356 (GRCm39) V46A probably benign Het
Muc16 A T 9: 18,568,294 (GRCm39) N1408K unknown Het
Myh7 T A 14: 55,226,753 (GRCm39) Q366L probably benign Het
Nbeal2 A G 9: 110,467,802 (GRCm39) V462A probably damaging Het
Nradd G T 9: 110,450,655 (GRCm39) T174N probably damaging Het
Nup155 T C 15: 8,138,963 (GRCm39) S12P probably benign Het
Obscn C A 11: 58,943,337 (GRCm39) E4832* probably null Het
Opn3 G A 1: 175,490,669 (GRCm39) R331W probably damaging Het
Or2ag15 A T 7: 106,340,761 (GRCm39) C127S probably damaging Het
Or2w3 T A 11: 58,556,757 (GRCm39) V124E possibly damaging Het
Or4a66 G T 2: 88,531,161 (GRCm39) H171N probably benign Het
Or52ae9 T A 7: 103,389,661 (GRCm39) H262L probably damaging Het
Or5b120 G A 19: 13,480,427 (GRCm39) C240Y probably damaging Het
Or6b2 T C 1: 92,408,305 (GRCm39) I13V probably benign Het
Phip A G 9: 82,785,234 (GRCm39) V827A probably benign Het
Phldb1 G A 9: 44,607,414 (GRCm39) R1264W probably damaging Het
Pibf1 T G 14: 99,424,014 (GRCm39) I529S probably benign Het
Pkp1 T A 1: 135,814,599 (GRCm39) I241F probably benign Het
Pla2g4f G T 2: 120,132,702 (GRCm39) D711E possibly damaging Het
Pold1 A G 7: 44,190,266 (GRCm39) probably null Het
Pold2 T C 11: 5,823,691 (GRCm39) S287G probably benign Het
Prg4 T C 1: 150,331,567 (GRCm39) probably benign Het
Prl8a1 T C 13: 27,759,557 (GRCm39) E160G possibly damaging Het
Rfc4 C T 16: 22,932,840 (GRCm39) probably benign Het
Robo3 T G 9: 37,332,225 (GRCm39) Y891S probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsph14 G A 10: 74,797,520 (GRCm39) R156W probably benign Het
Sec61a1 T C 6: 88,482,150 (GRCm39) Y457C probably benign Het
Sec63 T A 10: 42,704,861 (GRCm39) probably null Het
Spen T C 4: 141,244,333 (GRCm39) E234G unknown Het
Sphkap T A 1: 83,258,200 (GRCm39) E181V probably damaging Het
Stau2 C T 1: 16,445,035 (GRCm39) A298T probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tbc1d23 T C 16: 56,990,796 (GRCm39) I661V probably benign Het
Trpv1 T A 11: 73,141,636 (GRCm39) M553K possibly damaging Het
Ttn T C 2: 76,641,579 (GRCm39) I11760V probably benign Het
Vmn1r61 G A 7: 5,613,850 (GRCm39) H155Y probably damaging Het
Vmn2r41 A G 7: 8,153,214 (GRCm39) probably null Het
Vmn2r74 A G 7: 85,607,498 (GRCm39) I75T possibly damaging Het
Wwp2 C A 8: 108,232,977 (GRCm39) T205K probably benign Het
Zfp1003 A T 2: 177,546,195 (GRCm39) T40S probably benign Het
Zfp747 C T 7: 126,973,306 (GRCm39) G288D probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null Het
Zfp953 G A 13: 67,491,161 (GRCm39) L264F possibly damaging Het
Other mutations in Thoc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Thoc6 APN 17 23,888,857 (GRCm39) missense possibly damaging 0.68
PIT4382001:Thoc6 UTSW 17 23,887,841 (GRCm39) missense probably benign
R0100:Thoc6 UTSW 17 23,888,824 (GRCm39) missense probably damaging 1.00
R0114:Thoc6 UTSW 17 23,889,213 (GRCm39) missense probably benign 0.01
R0448:Thoc6 UTSW 17 23,888,550 (GRCm39) missense probably damaging 1.00
R1324:Thoc6 UTSW 17 23,896,437 (GRCm39) splice site probably null
R1917:Thoc6 UTSW 17 23,888,364 (GRCm39) unclassified probably benign
R2894:Thoc6 UTSW 17 23,888,009 (GRCm39) missense probably damaging 0.98
R4125:Thoc6 UTSW 17 23,888,319 (GRCm39) unclassified probably benign
R4765:Thoc6 UTSW 17 23,889,862 (GRCm39) missense probably damaging 1.00
R4791:Thoc6 UTSW 17 23,889,041 (GRCm39) missense possibly damaging 0.74
R4962:Thoc6 UTSW 17 23,888,911 (GRCm39) missense probably damaging 1.00
R5527:Thoc6 UTSW 17 23,889,769 (GRCm39) missense probably damaging 1.00
R5940:Thoc6 UTSW 17 23,889,315 (GRCm39) missense probably benign 0.00
R5965:Thoc6 UTSW 17 23,889,842 (GRCm39) missense possibly damaging 0.80
R6639:Thoc6 UTSW 17 23,889,428 (GRCm39) splice site probably null
R7080:Thoc6 UTSW 17 23,892,503 (GRCm39) missense probably null
R7133:Thoc6 UTSW 17 23,892,634 (GRCm39) splice site probably null
R7473:Thoc6 UTSW 17 23,889,841 (GRCm39) missense probably benign 0.06
R9025:Thoc6 UTSW 17 23,888,862 (GRCm39) missense
R9359:Thoc6 UTSW 17 23,887,823 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- GAAAGTCCTCGTCCATCAGG -3'
(R):5'- AGCATGGTCTCCACAGATCG -3'

Sequencing Primer
(F):5'- TCGTCCATCAGGGTAGGGAAC -3'
(R):5'- GATCGACACCTACTCAGTGCTG -3'
Posted On 2018-02-28