Incidental Mutation 'R4125:Thoc6'
ID 315377
Institutional Source Beutler Lab
Gene Symbol Thoc6
Ensembl Gene ENSMUSG00000041319
Gene Name THO complex 6
Synonyms Wdr58, F830014G06Rik
MMRRC Submission 041633-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4125 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 23887588-23892856 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 23888319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024697] [ENSMUST00000047436] [ENSMUST00000062967] [ENSMUST00000095579] [ENSMUST00000115489] [ENSMUST00000115490] [ENSMUST00000180140] [ENSMUST00000179928] [ENSMUST00000138190]
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 benign
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 benign
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 benign
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 benign
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 unknown
Transcript: ENSMUST00000135259
AA Change: W161R
SMART Domains Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319
AA Change: W161R

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 noncoding transcript
Transcript: ENSMUST00000125443
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: ENSMUST00000179928
SMART Domains Protein: ENSMUSP00000137205
Gene: ENSMUSG00000023904

DomainStartEndE-ValueType
Pfam:HPIP 2 112 3.3e-69 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (52/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 T A 3: 98,068,679 (GRCm39) C43S probably damaging Het
Adamts6 A T 13: 104,449,412 (GRCm39) Y274F probably damaging Het
Ap2b1 A G 11: 83,256,471 (GRCm39) probably null Het
Atm A C 9: 53,361,921 (GRCm39) L2732R probably damaging Het
Bbox1 A G 2: 110,100,525 (GRCm39) V224A probably benign Het
Bmpr1a T C 14: 34,156,690 (GRCm39) D112G probably benign Het
Cdk19 A G 10: 40,270,391 (GRCm39) I67V probably benign Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Chd9 A G 8: 91,777,912 (GRCm39) D2641G probably damaging Het
Chn2 G T 6: 54,249,963 (GRCm39) R24M probably damaging Het
Chuk T C 19: 44,088,613 (GRCm39) I121V probably null Het
Ctsr A T 13: 61,309,659 (GRCm39) D183E probably benign Het
Elp3 T C 14: 65,797,630 (GRCm39) E347G possibly damaging Het
Fhip1a A G 3: 85,572,690 (GRCm39) S988P possibly damaging Het
Gnas A G 2: 174,141,958 (GRCm39) N709S possibly damaging Het
Gramd2b T C 18: 56,618,296 (GRCm39) S199P probably damaging Het
Gtf3c1 A T 7: 125,246,622 (GRCm39) C1562* probably null Het
Ifit1bl1 T A 19: 34,572,188 (GRCm39) I90F probably damaging Het
Igf2r A T 17: 12,921,141 (GRCm39) H1313Q possibly damaging Het
Ighj4 T C 12: 113,392,176 (GRCm39) probably benign Het
Kansl2 G T 15: 98,429,636 (GRCm39) P132Q possibly damaging Het
Lman1 T C 18: 66,120,932 (GRCm39) H430R possibly damaging Het
Lrrk2 T C 15: 91,699,686 (GRCm39) I2511T probably benign Het
Lvrn C A 18: 47,010,036 (GRCm39) P395T possibly damaging Het
Myrip C A 9: 120,293,764 (GRCm39) S753* probably null Het
Nectin4 A G 1: 171,213,301 (GRCm39) S408G probably benign Het
Or14j8 A G 17: 38,263,681 (GRCm39) I78T probably benign Het
Or52ae9 T C 7: 103,390,207 (GRCm39) K80R probably benign Het
Pcdhb13 T C 18: 37,576,873 (GRCm39) I417T probably damaging Het
Per2 T C 1: 91,357,172 (GRCm39) T664A possibly damaging Het
Plec A T 15: 76,056,962 (GRCm39) L4347Q probably damaging Het
Poln A G 5: 34,261,295 (GRCm39) S561P probably benign Het
Polr1a T C 6: 71,942,690 (GRCm39) F1177L probably benign Het
Pramel24 C T 4: 143,452,850 (GRCm39) R94* probably null Het
Ptprb A T 10: 116,189,754 (GRCm39) R1804S probably benign Het
Rhof C T 5: 123,257,588 (GRCm39) V181M probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc22a12 T C 19: 6,588,818 (GRCm39) E281G probably damaging Het
Slco6b1 T A 1: 96,915,622 (GRCm39) noncoding transcript Het
Stac C A 9: 111,433,126 (GRCm39) probably null Het
Tcof1 C A 18: 60,952,673 (GRCm39) A898S unknown Het
Tep1 C T 14: 51,081,191 (GRCm39) R1349Q possibly damaging Het
Tmem179 A T 12: 112,477,461 (GRCm39) F8I possibly damaging Het
Tnpo3 A G 6: 29,560,091 (GRCm39) L684P probably damaging Het
Ubash3a T C 17: 31,456,249 (GRCm39) Y506H probably damaging Het
Umps G A 16: 33,777,288 (GRCm39) Q431* probably null Het
Unc13c A G 9: 73,481,289 (GRCm39) probably null Het
Vmn1r210 A T 13: 23,011,779 (GRCm39) M169K probably benign Het
Zfp946 C T 17: 22,673,548 (GRCm39) Q101* probably null 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
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
R6232:Thoc6 UTSW 17 23,889,295 (GRCm39) critical splice donor site probably null
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'- GATTGACACAACAGCCCTGG -3'
(R):5'- CGAAGTCTACAAGCATGAGGTG -3'

Sequencing Primer
(F):5'- TGGCCAGCAGACAGGATC -3'
(R):5'- TGAGGAGAGAGTGCGCCC -3'
Posted On 2015-05-14