Incidental Mutation 'R7799:Thoc1'
ID 600454
Institutional Source Beutler Lab
Gene Symbol Thoc1
Ensembl Gene ENSMUSG00000024287
Gene Name THO complex 1
Synonyms NMP-84, 3110002N20Rik
MMRRC Submission 045854-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7799 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 9958176-9995486 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9984441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 309 (D309V)
Ref Sequence ENSEMBL: ENSMUSP00000025137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025137]
AlphaFold Q8R3N6
Predicted Effect probably damaging
Transcript: ENSMUST00000025137
AA Change: D309V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: D309V

DomainStartEndE-ValueType
Pfam:efThoc1 69 546 7.2e-149 PFAM
DEATH 560 653 1.27e-24 SMART
Meta Mutation Damage Score 0.3385 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,362 (GRCm39) V1517A probably benign Het
Adam17 C A 12: 21,390,493 (GRCm39) G410C probably damaging Het
Adcy3 A G 12: 4,254,762 (GRCm39) D698G probably damaging Het
Afap1 T A 5: 36,131,742 (GRCm39) N356K possibly damaging Het
Afm A G 5: 90,671,713 (GRCm39) N132D probably benign Het
Bsdc1 T A 4: 129,359,141 (GRCm39) probably null Het
Ccdc121rt2 T G 5: 112,597,698 (GRCm39) Y82D not run Het
Ccdc47 T C 11: 106,101,143 (GRCm39) E173G possibly damaging Het
Cit T G 5: 116,001,027 (GRCm39) F142C probably benign Het
Cnga3 A G 1: 37,300,852 (GRCm39) D524G probably damaging Het
Cpne8 T A 15: 90,424,450 (GRCm39) D313V probably damaging Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Flrt1 C A 19: 7,073,229 (GRCm39) L439F possibly damaging Het
Gkn1 A T 6: 87,325,163 (GRCm39) I82N probably damaging Het
Gm14410 C A 2: 176,885,613 (GRCm39) C217F probably damaging Het
Gm14412 G T 2: 177,007,590 (GRCm39) H102N probably benign Het
Gm3159 A T 14: 4,397,585 (GRCm38) probably benign Het
Golm2 T C 2: 121,764,022 (GRCm39) V434A probably benign Het
Helz2 A G 2: 180,879,782 (GRCm39) M612T probably benign Het
Iars1 T A 13: 49,876,494 (GRCm39) I853N probably damaging Het
Kcna4 A C 2: 107,126,237 (GRCm39) I324L possibly damaging Het
Kcnh1 T C 1: 192,117,183 (GRCm39) S690P probably damaging Het
Kpna3 T C 14: 61,622,182 (GRCm39) Y194C probably damaging Het
Lrrc56 T C 7: 140,789,515 (GRCm39) S511P probably damaging Het
Ltbp1 A G 17: 75,559,351 (GRCm39) Y280C probably damaging Het
Macf1 A G 4: 123,420,906 (GRCm39) I116T probably benign Het
Mmp16 A T 4: 18,112,112 (GRCm39) N496I probably damaging Het
Mon2 T C 10: 122,878,236 (GRCm39) D229G probably benign Het
Or2b2 T A 13: 21,887,369 (GRCm39) L66Q probably damaging Het
Or2j6 A T 7: 139,980,377 (GRCm39) M194K probably damaging Het
Or52s1 A G 7: 102,861,186 (GRCm39) I40V probably benign Het
Or5p61 T A 7: 107,758,637 (GRCm39) I148F probably benign Het
Or5w14 G T 2: 87,541,428 (GRCm39) T274K possibly damaging Het
Pkp1 A G 1: 135,817,695 (GRCm39) F147L possibly damaging Het
Ppp1r3e T C 14: 55,114,672 (GRCm39) Q30R probably damaging Het
Ppp2r5b C A 19: 6,282,628 (GRCm39) R174L probably benign Het
Pramel58 A G 5: 94,831,287 (GRCm39) D98G possibly damaging Het
Qrfprl G T 6: 65,433,121 (GRCm39) A314S possibly damaging Het
Rbm15 C T 3: 107,239,459 (GRCm39) R313H probably damaging Het
Rgs18 A G 1: 144,629,603 (GRCm39) F219L probably damaging Het
Ryr1 T C 7: 28,702,985 (GRCm39) probably null Het
Sirpd T A 3: 15,361,723 (GRCm39) probably null Het
Sirt4 T G 5: 115,617,805 (GRCm39) I284L probably benign Het
Slc25a11 A G 11: 70,536,005 (GRCm39) V243A probably benign Het
Syde1 A G 10: 78,425,741 (GRCm39) I142T probably benign Het
Synj2 A G 17: 6,088,098 (GRCm39) E1383G probably benign Het
Syt4 A T 18: 31,573,245 (GRCm39) C423* probably null Het
Tfr2 T A 5: 137,569,986 (GRCm39) Y131N possibly damaging Het
Tgm1 C T 14: 55,949,932 (GRCm39) R92Q unknown Het
Vmn2r24 C T 6: 123,757,422 (GRCm39) H97Y probably benign Het
Wbp1 A T 6: 83,097,176 (GRCm39) Y89* probably null Het
Wnk1 A G 6: 119,926,137 (GRCm39) L1358P probably benign Het
Zfp14 T C 7: 29,738,368 (GRCm39) T206A possibly damaging Het
Zfp748 T C 13: 67,689,608 (GRCm39) T551A probably benign Het
Zfp9 A T 6: 118,441,843 (GRCm39) V273E probably damaging 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
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
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'- TGATCCTCAGGTCCACTCTG -3'
(R):5'- CCAAAAGCAAAGCCCTGTGG -3'

Sequencing Primer
(F):5'- CCATCTGTTTGCAGGGCTAGAAAG -3'
(R):5'- CCTGTGGCCTAAAATATGAAAAATTC -3'
Posted On 2019-11-26