Incidental Mutation 'R0100:Thoc6'
ID17909
Institutional Source Beutler Lab
Gene Symbol Thoc6
Ensembl Gene ENSMUSG00000041319
Gene NameTHO complex 6
SynonymsWdr58, F830014G06Rik
MMRRC Submission 038386-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0100 (G1)
Quality Score
Status Validated
Chromosome17
Chromosomal Location23668614-23673882 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 23669850 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 195 (W195R)
Ref Sequence ENSEMBL: ENSMUSP00000111153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024697] [ENSMUST00000047436] [ENSMUST00000062967] [ENSMUST00000095579] [ENSMUST00000115489] [ENSMUST00000115490] [ENSMUST00000138190] [ENSMUST00000179928] [ENSMUST00000180140]
Predicted Effect probably benign
Transcript: ENSMUST00000024697
SMART Domains Protein: ENSMUSP00000024697
Gene: ENSMUSG00000023904

DomainStartEndE-ValueType
Pfam:HPIP 2 116 7e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000047436
AA Change: W195R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319
AA Change: W195R

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 damaging
Transcript: ENSMUST00000095579
AA Change: W195R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319
AA Change: W195R

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 damaging
Transcript: ENSMUST00000115489
AA Change: W191R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319
AA Change: W191R

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 damaging
Transcript: ENSMUST00000115490
AA Change: W195R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319
AA Change: W195R

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 noncoding transcript
Transcript: ENSMUST00000133849
Predicted Effect unknown
Transcript: ENSMUST00000135259
AA Change: W107R
SMART Domains Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319
AA Change: W107R

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 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
Predicted Effect probably benign
Transcript: ENSMUST00000180140
SMART Domains Protein: ENSMUSP00000137336
Gene: ENSMUSG00000023904

DomainStartEndE-ValueType
Pfam:HPIP 2 116 2.9e-58 PFAM
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 90.3%
  • 3x: 88.1%
  • 10x: 82.7%
  • 20x: 75.2%
Validation Efficiency 89% (68/76)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A G 7: 34,254,011 I442T possibly damaging Het
Agrn A G 4: 156,174,958 C814R probably damaging Het
Aoc1 T C 6: 48,908,604 I681T possibly damaging Het
Atp13a4 T C 16: 29,421,724 H793R probably damaging Het
Atp6v0a4 T C 6: 38,076,815 I351V probably benign Het
Bbof1 T A 12: 84,411,055 D31E probably benign Het
Cpxm2 T A 7: 132,054,871 H554L possibly damaging Het
Ddx55 C T 5: 124,556,782 T91I probably damaging Het
Dhx57 T C 17: 80,275,156 D340G possibly damaging Het
Dnah1 C T 14: 31,262,152 probably null Het
Dpp9 C T 17: 56,205,854 G118D possibly damaging Het
Etl4 T C 2: 20,339,905 S4P probably benign Het
Fat4 A C 3: 38,980,248 N2683T probably damaging Het
Gabrb2 A G 11: 42,487,314 D119G probably damaging Het
Greb1 T A 12: 16,680,224 Q1734L probably benign Het
Gtf2ird2 T C 5: 134,217,015 L705P probably damaging Het
H13 T A 2: 152,689,863 probably null Het
Hgs T G 11: 120,482,852 Y708D possibly damaging Het
Hip1 T C 5: 135,436,453 D367G probably benign Het
Ift140 C T 17: 25,090,954 Q1112* probably null Het
Il17b A G 18: 61,690,271 M59V probably benign Het
Lpin3 T C 2: 160,905,340 Y829H probably damaging Het
Lrrk2 A T 15: 91,745,796 N1230I probably damaging Het
Mindy2 C A 9: 70,607,449 probably benign Het
Nup210 T G 6: 91,069,193 E586A probably benign Het
Olfr1105 T C 2: 87,033,595 T209A probably benign Het
Olfr1344 C T 7: 6,440,400 R167C probably damaging Het
Olfr346 A T 2: 36,688,911 N303I probably benign Het
Osgepl1 A G 1: 53,323,213 I405V probably damaging Het
Pdcd11 T C 19: 47,102,666 S360P probably benign Het
Plekha6 T C 1: 133,270,177 S271P probably damaging Het
Plekhs1 A G 19: 56,478,502 E255G probably damaging Het
Pram1 T A 17: 33,641,399 N313K possibly damaging Het
Rapgef5 C T 12: 117,721,299 S261L probably benign Het
Spint5 T A 2: 164,717,000 C49S probably damaging Het
Tex22 T A 12: 113,088,772 I150N probably benign Het
Tmem106a T C 11: 101,586,258 S98P probably benign Het
Tnfrsf18 A G 4: 156,028,366 T170A probably benign Het
Tor1aip1 A T 1: 156,007,075 D342E probably damaging Het
Trav7-6 T C 14: 53,717,072 S20P probably damaging Het
Trpc6 C T 9: 8,653,034 P614S probably damaging Het
Washc5 A G 15: 59,344,098 F811L possibly damaging Het
Other mutations in Thoc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Thoc6 APN 17 23669883 missense possibly damaging 0.68
PIT4382001:Thoc6 UTSW 17 23668867 missense probably benign
R0114:Thoc6 UTSW 17 23670239 missense probably benign 0.01
R0448:Thoc6 UTSW 17 23669576 missense probably damaging 1.00
R1324:Thoc6 UTSW 17 23677463 unclassified probably null
R1917:Thoc6 UTSW 17 23669390 unclassified probably benign
R2894:Thoc6 UTSW 17 23669035 missense probably damaging 0.98
R4125:Thoc6 UTSW 17 23669345 unclassified probably benign
R4765:Thoc6 UTSW 17 23670888 missense probably damaging 1.00
R4791:Thoc6 UTSW 17 23670067 missense possibly damaging 0.74
R4962:Thoc6 UTSW 17 23669937 missense probably damaging 1.00
R5527:Thoc6 UTSW 17 23670795 missense probably damaging 1.00
R5940:Thoc6 UTSW 17 23670341 missense probably benign 0.00
R5965:Thoc6 UTSW 17 23670868 missense possibly damaging 0.80
R6232:Thoc6 UTSW 17 23670321 critical splice donor site probably null
R6639:Thoc6 UTSW 17 23670454 unclassified probably null
R7080:Thoc6 UTSW 17 23673529 missense probably null
R7133:Thoc6 UTSW 17 23673660 utr 5 prime probably null
R7473:Thoc6 UTSW 17 23670867 missense probably benign 0.06
Posted On2013-03-25