Incidental Mutation 'R2196:Thoc1'
ID 238387
Institutional Source Beutler Lab
Gene Symbol Thoc1
Ensembl Gene ENSMUSG00000024287
Gene Name THO complex 1
Synonyms NMP-84, 3110002N20Rik
MMRRC Submission 040198-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2196 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 9958176-9995486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9986300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 344 (V344D)
Ref Sequence ENSEMBL: ENSMUSP00000025137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025137]
AlphaFold Q8R3N6
Predicted Effect probably damaging
Transcript: ENSMUST00000025137
AA Change: V344D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: V344D

DomainStartEndE-ValueType
Pfam:efThoc1 69 546 7.2e-149 PFAM
DEATH 560 653 1.27e-24 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mutations in this gene result in embryonic lethality around implantation in homozygotes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Acvr2a A T 2: 48,760,324 (GRCm39) T27S possibly damaging Het
Ankhd1 T A 18: 36,781,432 (GRCm39) N2161K probably damaging Het
Apba3 A G 10: 81,107,542 (GRCm39) Y350C probably damaging Het
Bnipl T A 3: 95,157,181 (GRCm39) R47S possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Cep112 G A 11: 108,461,187 (GRCm39) E329K probably damaging Het
Cep55 T A 19: 38,057,558 (GRCm39) Y187N probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Csad T C 15: 102,096,028 (GRCm39) N142D probably benign Het
Dars1 A T 1: 128,306,595 (GRCm39) I195N probably damaging Het
Dmxl1 T A 18: 50,050,698 (GRCm39) L2454Q probably benign Het
Emc1 A T 4: 139,093,841 (GRCm39) E650D probably benign Het
Enam A G 5: 88,650,603 (GRCm39) D704G probably damaging Het
Fat1 T A 8: 45,477,683 (GRCm39) I2220N probably damaging Het
Fat4 T C 3: 39,035,566 (GRCm39) S3073P probably benign Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Gcsh G A 8: 117,715,909 (GRCm39) T58M possibly damaging Het
Ghrhr T C 6: 55,356,726 (GRCm39) Y108H probably damaging Het
Gm5431 A T 11: 48,780,058 (GRCm39) I566N probably damaging Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Grin2c G T 11: 115,141,492 (GRCm39) S875R probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Krt87 T C 15: 101,336,314 (GRCm39) E113G probably damaging Het
Map4 A G 9: 109,900,116 (GRCm39) E934G probably damaging Het
Mkx A G 18: 7,000,675 (GRCm39) L89P probably damaging Het
Myo15a T A 11: 60,400,847 (GRCm39) Y2982* probably null Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nom1 A G 5: 29,641,019 (GRCm39) D353G probably benign Het
Notch1 A T 2: 26,353,816 (GRCm39) L1937* probably null Het
Nrxn2 A T 19: 6,540,139 (GRCm39) D820V probably damaging Het
Nup210 A T 6: 91,032,226 (GRCm39) N47K probably benign Het
Or1j12 T A 2: 36,342,600 (GRCm39) M1K probably null Het
Or4p21 G A 2: 88,277,054 (GRCm39) T76I probably benign Het
Or6d14 A T 6: 116,533,578 (GRCm39) Q64L probably damaging Het
Pcolce2 A T 9: 95,576,742 (GRCm39) I338F probably damaging Het
Pkd1 T C 17: 24,799,046 (GRCm39) M2755T possibly damaging Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Rab3a T C 8: 71,209,872 (GRCm39) S51P probably benign Het
Scn10a G A 9: 119,438,070 (GRCm39) A1933V probably benign Het
Serpina1c T A 12: 103,862,370 (GRCm39) Y315F probably damaging Het
Slc29a4 A C 5: 142,698,650 (GRCm39) I104L possibly damaging Het
Spag16 G A 1: 69,897,681 (GRCm39) V144I possibly damaging Het
Spata22 A G 11: 73,236,660 (GRCm39) K322R probably benign Het
Sult2a8 T A 7: 14,161,778 (GRCm39) I23L probably benign Het
Tnn G C 1: 159,924,798 (GRCm39) Y1185* probably null Het
Trpc4 A G 3: 54,209,614 (GRCm39) I660V probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Usp4 A G 9: 108,250,885 (GRCm39) E531G probably benign Het
Vmn2r93 C T 17: 18,525,428 (GRCm39) S362L probably damaging Het
Zfhx3 G T 8: 109,526,885 (GRCm39) E927D probably damaging Het
Zfp644 A T 5: 106,786,469 (GRCm39) M1K probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R probably benign Het
Other mutations in Thoc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Thoc1 APN 18 9,989,744 (GRCm39) missense possibly damaging 0.90
IGL01313:Thoc1 APN 18 9,987,158 (GRCm39) missense probably benign 0.05
IGL01501:Thoc1 APN 18 9,986,321 (GRCm39) missense possibly damaging 0.96
IGL01533:Thoc1 APN 18 9,962,376 (GRCm39) missense probably benign 0.02
IGL01821:Thoc1 APN 18 9,993,429 (GRCm39) missense probably benign
IGL01838:Thoc1 APN 18 9,993,386 (GRCm39) missense possibly damaging 0.94
IGL02193:Thoc1 APN 18 9,992,863 (GRCm39) missense probably benign 0.01
IGL02531:Thoc1 APN 18 9,970,258 (GRCm39) missense probably benign
IGL03203:Thoc1 APN 18 9,960,483 (GRCm39) splice site probably benign
R0724:Thoc1 UTSW 18 9,963,829 (GRCm39) missense probably damaging 1.00
R0831:Thoc1 UTSW 18 9,963,267 (GRCm39) missense probably benign 0.00
R2256:Thoc1 UTSW 18 9,993,466 (GRCm39) missense possibly damaging 0.85
R2257:Thoc1 UTSW 18 9,993,466 (GRCm39) missense possibly damaging 0.85
R2289:Thoc1 UTSW 18 9,984,488 (GRCm39) missense probably damaging 1.00
R2508:Thoc1 UTSW 18 9,977,947 (GRCm39) missense probably damaging 0.99
R2937:Thoc1 UTSW 18 9,959,255 (GRCm39) missense probably damaging 0.96
R3967:Thoc1 UTSW 18 9,968,787 (GRCm39) missense probably damaging 0.99
R4012:Thoc1 UTSW 18 9,987,651 (GRCm39) missense possibly damaging 0.87
R4320:Thoc1 UTSW 18 9,960,493 (GRCm39) missense probably benign
R4686:Thoc1 UTSW 18 9,970,312 (GRCm39) nonsense probably null
R4811:Thoc1 UTSW 18 9,993,438 (GRCm39) missense probably damaging 0.97
R4962:Thoc1 UTSW 18 9,962,387 (GRCm39) missense probably benign 0.01
R5486:Thoc1 UTSW 18 9,992,204 (GRCm39) missense probably benign 0.39
R5648:Thoc1 UTSW 18 9,962,390 (GRCm39) missense possibly damaging 0.94
R6291:Thoc1 UTSW 18 9,993,330 (GRCm39) missense probably benign
R6406:Thoc1 UTSW 18 9,977,963 (GRCm39) missense probably damaging 1.00
R6458:Thoc1 UTSW 18 9,993,333 (GRCm39) missense probably benign
R7379:Thoc1 UTSW 18 9,992,902 (GRCm39) missense probably benign 0.25
R7580:Thoc1 UTSW 18 9,986,343 (GRCm39) missense probably damaging 0.98
R7685:Thoc1 UTSW 18 9,993,454 (GRCm39) nonsense probably null
R7795:Thoc1 UTSW 18 9,986,300 (GRCm39) missense probably damaging 0.96
R7799:Thoc1 UTSW 18 9,984,441 (GRCm39) missense probably damaging 1.00
R8498:Thoc1 UTSW 18 9,989,693 (GRCm39) missense probably benign 0.00
R8779:Thoc1 UTSW 18 9,993,366 (GRCm39) missense probably benign 0.18
R9302:Thoc1 UTSW 18 9,968,800 (GRCm39) missense possibly damaging 0.77
R9488:Thoc1 UTSW 18 9,992,168 (GRCm39) missense probably damaging 1.00
X0057:Thoc1 UTSW 18 9,992,178 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTCAGACCAGGTAATTGAATGTC -3'
(R):5'- AACCAAGACGTGTTTGTGTTCTTG -3'

Sequencing Primer
(F):5'- CCAGGTAATTGAATGTCTTATTTGCC -3'
(R):5'- GTGTTCTTGTACCTGAGCTTAAC -3'
Posted On 2014-10-02