Incidental Mutation 'R4320:Thoc1'
ID 323795
Institutional Source Beutler Lab
Gene Symbol Thoc1
Ensembl Gene ENSMUSG00000024287
Gene Name THO complex 1
Synonyms NMP-84, 3110002N20Rik
MMRRC Submission 041661-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4320 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 9958176-9995486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9960493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 66 (H66R)
Ref Sequence ENSEMBL: ENSMUSP00000025137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025137]
AlphaFold Q8R3N6
Predicted Effect probably benign
Transcript: ENSMUST00000025137
AA Change: H66R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: H66R

DomainStartEndE-ValueType
Pfam:efThoc1 69 546 7.2e-149 PFAM
DEATH 560 653 1.27e-24 SMART
Meta Mutation Damage Score 0.0589 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (46/48)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,740,076 (GRCm39) V826I possibly damaging Het
Arid4a T A 12: 71,116,769 (GRCm39) I609N possibly damaging Het
Asb13 G T 13: 3,695,012 (GRCm39) R160L possibly damaging Het
Brix1 A T 15: 10,483,398 (GRCm39) M91K probably damaging Het
Ccdc191 A G 16: 43,767,872 (GRCm39) E624G probably damaging Het
Cdh10 A G 15: 18,985,251 (GRCm39) D305G probably benign Het
Daxx T C 17: 34,130,393 (GRCm39) L136P probably damaging Het
Fmo1 A T 1: 162,661,200 (GRCm39) L361Q probably damaging Het
Ggcx A G 6: 72,405,803 (GRCm39) S545G probably benign Het
Gm5114 T G 7: 39,057,051 (GRCm39) Y856S probably damaging Het
Grk5 C T 19: 61,080,383 (GRCm39) R576* probably null Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Htr1f T C 16: 64,747,050 (GRCm39) I81V possibly damaging Het
Kprp G A 3: 92,732,163 (GRCm39) R296W probably damaging Het
Mtf2 T A 5: 108,234,891 (GRCm39) C3S probably damaging Het
Mtmr3 T C 11: 4,437,947 (GRCm39) R836G probably benign Het
Ntrk2 A G 13: 59,007,960 (GRCm39) N241D possibly damaging Het
Or12j2 T A 7: 139,916,219 (GRCm39) I148N possibly damaging Het
Or2y1f G A 11: 49,184,503 (GRCm39) M118I probably damaging Het
Or7g25 A C 9: 19,160,052 (GRCm39) I214M probably damaging Het
Or7g28 G T 9: 19,272,254 (GRCm39) Y132* probably null Het
Orc1 G A 4: 108,445,973 (GRCm39) M30I probably benign Het
Pax2 T A 19: 44,823,838 (GRCm39) F366I probably damaging Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Plekha5 A G 6: 140,489,543 (GRCm39) K316E possibly damaging Het
Ppp4r4 T A 12: 103,564,502 (GRCm39) N8K probably damaging Het
Rnf125 G A 18: 21,110,817 (GRCm39) R25K probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin1 G A 7: 126,816,200 (GRCm39) P77S probably damaging Het
Sostdc1 C A 12: 36,367,419 (GRCm39) S198R probably benign Het
Sox6 A G 7: 115,179,798 (GRCm39) probably null Het
Spef2 A T 15: 9,679,429 (GRCm39) I636K possibly damaging Het
Stat4 A G 1: 52,113,866 (GRCm39) N192S probably benign Het
Tpr A G 1: 150,299,325 (GRCm39) E1101G possibly damaging Het
Trpa1 G T 1: 14,944,676 (GRCm39) H1023N probably benign Het
Tsen15 A T 1: 152,259,460 (GRCm39) D66E probably damaging Het
Tssk3 A G 4: 129,382,994 (GRCm39) V226A possibly damaging Het
Ufl1 T A 4: 25,278,601 (GRCm39) probably null Het
Usp3 A G 9: 66,437,530 (GRCm39) C258R possibly damaging Het
Vmn2r117 TC T 17: 23,698,487 (GRCm39) probably null 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
R2196:Thoc1 UTSW 18 9,986,300 (GRCm39) missense probably damaging 0.99
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
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'- GGGTTTTGATTGACTCACTCTTTAC -3'
(R):5'- TTCTTGGCAAAGGAAGGAGTC -3'

Sequencing Primer
(F):5'- GACTCACTCTTTACTGCTTGATATAC -3'
(R):5'- CAGCATGCATGAGGCCCTATATTTG -3'
Posted On 2015-06-24