Incidental Mutation 'IGL02531:Thoc1'
ID297314
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thoc1
Ensembl Gene ENSMUSG00000024287
Gene NameTHO complex 1
Synonyms3110002N20Rik, NMP-84
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02531
Quality Score
Status
Chromosome18
Chromosomal Location9958180-9995484 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 9970258 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 203 (T203A)
Ref Sequence ENSEMBL: ENSMUSP00000025137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025137]
Predicted Effect probably benign
Transcript: ENSMUST00000025137
AA Change: T203A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025137
Gene: ENSMUSG00000024287
AA Change: T203A

DomainStartEndE-ValueType
Pfam:efThoc1 69 546 7.2e-149 PFAM
DEATH 560 653 1.27e-24 SMART
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 C A 6: 86,956,447 H467N unknown Het
Alb A G 5: 90,467,448 D273G probably damaging Het
Arap3 A G 18: 37,989,751 S531P probably damaging Het
Bmpr2 T A 1: 59,845,714 probably null Het
Chd7 G A 4: 8,854,134 R1902H probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2b13 A T 7: 26,061,605 H29L possibly damaging Het
Enpp5 G T 17: 44,080,952 V91F probably damaging Het
Fam210b T C 2: 172,352,755 Y176H probably damaging Het
Fam83b T C 9: 76,492,000 E607G possibly damaging Het
Gm4788 T C 1: 139,774,569 K59R probably benign Het
Hhla1 C T 15: 65,967,407 probably benign Het
Kdm3b A G 18: 34,795,729 T178A probably benign Het
Klf1 T A 8: 84,904,808 F334I probably damaging Het
Klra8 A G 6: 130,118,970 S220P possibly damaging Het
Medag A G 5: 149,422,151 N99S probably benign Het
Muc6 T C 7: 141,636,940 T2607A possibly damaging Het
Mug2 T G 6: 122,072,771 L921R probably damaging Het
Nacad T C 11: 6,598,580 N1385D possibly damaging Het
Nin A G 12: 70,020,932 F1983L probably benign Het
Nipal4 T C 11: 46,151,325 I176M probably damaging Het
Orc6 T C 8: 85,303,369 S47P probably damaging Het
Ovch2 C T 7: 107,790,198 C341Y probably damaging Het
Polq T A 16: 37,062,374 H1633Q possibly damaging Het
Rab23 T C 1: 33,738,280 probably benign Het
Rai14 A G 15: 10,574,782 S697P probably damaging Het
Rnf213 T C 11: 119,436,802 F1872L probably benign Het
Sdhc T C 1: 171,136,018 H127R probably damaging Het
Snx9 T C 17: 5,891,820 V74A probably benign Het
Spata31d1d A G 13: 59,727,934 S596P possibly damaging Het
Syt14 T C 1: 192,901,934 *78W probably null Het
Trmt13 A G 3: 116,592,191 probably null Het
Ttc28 A G 5: 111,225,850 I1020V probably damaging Het
Vmn2r16 A G 5: 109,340,268 T336A probably damaging Het
Other mutations in Thoc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Thoc1 APN 18 9989744 missense possibly damaging 0.90
IGL01313:Thoc1 APN 18 9987158 missense probably benign 0.05
IGL01501:Thoc1 APN 18 9986321 missense possibly damaging 0.96
IGL01533:Thoc1 APN 18 9962376 missense probably benign 0.02
IGL01821:Thoc1 APN 18 9993429 missense probably benign
IGL01838:Thoc1 APN 18 9993386 missense possibly damaging 0.94
IGL02193:Thoc1 APN 18 9992863 missense probably benign 0.01
IGL03203:Thoc1 APN 18 9960483 splice site probably benign
R0724:Thoc1 UTSW 18 9963829 missense probably damaging 1.00
R0831:Thoc1 UTSW 18 9963267 missense probably benign 0.00
R2196:Thoc1 UTSW 18 9986300 missense probably damaging 0.99
R2256:Thoc1 UTSW 18 9993466 missense possibly damaging 0.85
R2257:Thoc1 UTSW 18 9993466 missense possibly damaging 0.85
R2289:Thoc1 UTSW 18 9984488 missense probably damaging 1.00
R2508:Thoc1 UTSW 18 9977947 missense probably damaging 0.99
R2937:Thoc1 UTSW 18 9959255 missense probably damaging 0.96
R3967:Thoc1 UTSW 18 9968787 missense probably damaging 0.99
R4012:Thoc1 UTSW 18 9987651 missense possibly damaging 0.87
R4320:Thoc1 UTSW 18 9960493 missense probably benign
R4686:Thoc1 UTSW 18 9970312 nonsense probably null
R4811:Thoc1 UTSW 18 9993438 missense probably damaging 0.97
R4962:Thoc1 UTSW 18 9962387 missense probably benign 0.01
R5486:Thoc1 UTSW 18 9992204 missense probably benign 0.39
R5648:Thoc1 UTSW 18 9962390 missense possibly damaging 0.94
R6291:Thoc1 UTSW 18 9993330 missense probably benign
R6406:Thoc1 UTSW 18 9977963 missense probably damaging 1.00
R6458:Thoc1 UTSW 18 9993333 missense probably benign
R7379:Thoc1 UTSW 18 9992902 missense probably benign 0.25
R7580:Thoc1 UTSW 18 9986343 missense probably damaging 0.98
R7685:Thoc1 UTSW 18 9993454 nonsense probably null
R7795:Thoc1 UTSW 18 9986300 missense probably damaging 0.96
R7799:Thoc1 UTSW 18 9984441 missense probably damaging 1.00
R8498:Thoc1 UTSW 18 9989693 missense probably benign 0.00
R8779:Thoc1 UTSW 18 9993366 missense probably benign 0.18
X0057:Thoc1 UTSW 18 9992178 missense possibly damaging 0.95
Posted On2015-04-16