Incidental Mutation 'IGL03407:Trex1'
ID 421644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trex1
Ensembl Gene ENSMUSG00000049734
Gene Name three prime repair exonuclease 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL03407
Quality Score
Status
Chromosome 9
Chromosomal Location 108887000-108888791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108887395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 199 (G199S)
Ref Sequence ENSEMBL: ENSMUSP00000107684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026737] [ENSMUST00000045011] [ENSMUST00000061973] [ENSMUST00000112053] [ENSMUST00000112059] [ENSMUST00000128062] [ENSMUST00000154184] [ENSMUST00000160217] [ENSMUST00000197689] [ENSMUST00000196954] [ENSMUST00000198295] [ENSMUST00000198376] [ENSMUST00000161521] [ENSMUST00000197099] [ENSMUST00000197483] [ENSMUST00000159614] [ENSMUST00000198708] [ENSMUST00000200629] [ENSMUST00000200515]
AlphaFold Q91XB0
PDB Structure The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partenring [X-RAY DIFFRACTION]
Structure of TREX1 in complex with a nucleotide [X-RAY DIFFRACTION]
Structure of TREX1 in complex with DNA [X-RAY DIFFRACTION]
Crystal Structure of mTREX1 with ssDNA [X-RAY DIFFRACTION]
Structure of TREX1 in complex with a nucleotide and an inhibitor ion (lithium) [X-RAY DIFFRACTION]
Structure of TREX1 in complex with a nucleotide and inhibitor ions (sodium and zinc) [X-RAY DIFFRACTION]
TREX1 3' Exonuclease D18N Familial Chilblain Lupus Mutant [X-RAY DIFFRACTION]
Crystal Structure of the mTREX1 Apoprotein [X-RAY DIFFRACTION]
TREX1 3' Exonuclease V201D Aicardi-Goutieres Syndrome Mutant [X-RAY DIFFRACTION]
Mouse TREX1 D200H mutant [X-RAY DIFFRACTION]
>> 1 additional structures at PDB <<
Predicted Effect probably benign
Transcript: ENSMUST00000026737
SMART Domains Protein: ENSMUSP00000026737
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:Shisa 24 211 1.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045011
SMART Domains Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
SCOP:d1eq1a_ 96 193 8e-3 SMART
low complexity region 326 338 N/A INTRINSIC
low complexity region 542 548 N/A INTRINSIC
low complexity region 555 566 N/A INTRINSIC
low complexity region 598 609 N/A INTRINSIC
low complexity region 761 779 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000061973
AA Change: G199S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050971
Gene: ENSMUSG00000049734
AA Change: G199S

DomainStartEndE-ValueType
EXOIII 13 217 2.45e-13 SMART
low complexity region 248 283 N/A INTRINSIC
transmembrane domain 287 309 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112053
AA Change: G199S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107684
Gene: ENSMUSG00000049734
AA Change: G199S

DomainStartEndE-ValueType
EXOIII 13 217 2.45e-13 SMART
low complexity region 248 283 N/A INTRINSIC
transmembrane domain 287 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112059
SMART Domains Protein: ENSMUSP00000107690
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:Shisa 26 198 1.1e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128062
SMART Domains Protein: ENSMUSP00000118499
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
PDB:3MXJ|A 1 150 4e-97 PDB
SCOP:d1fxxa_ 12 146 7e-12 SMART
Blast:EXOIII 13 150 1e-85 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000154184
SMART Domains Protein: ENSMUSP00000128901
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 1 108 1.6e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160928
SMART Domains Protein: ENSMUSP00000123837
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
SCOP:d1eq1a_ 19 116 9e-3 SMART
low complexity region 249 261 N/A INTRINSIC
low complexity region 465 471 N/A INTRINSIC
low complexity region 478 489 N/A INTRINSIC
low complexity region 521 532 N/A INTRINSIC
low complexity region 684 702 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160217
SMART Domains Protein: ENSMUSP00000125264
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
SCOP:d1eq1a_ 96 193 3e-3 SMART
low complexity region 326 338 N/A INTRINSIC
low complexity region 533 550 N/A INTRINSIC
low complexity region 570 581 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197689
SMART Domains Protein: ENSMUSP00000142874
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 1 63 4.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196954
SMART Domains Protein: ENSMUSP00000143599
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 1 95 1.9e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198295
SMART Domains Protein: ENSMUSP00000143721
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 1 70 1.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198376
SMART Domains Protein: ENSMUSP00000143374
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 1 83 5e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161521
SMART Domains Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
coiled coil region 108 208 N/A INTRINSIC
low complexity region 326 338 N/A INTRINSIC
low complexity region 542 548 N/A INTRINSIC
low complexity region 555 566 N/A INTRINSIC
low complexity region 598 609 N/A INTRINSIC
low complexity region 734 752 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197099
SMART Domains Protein: ENSMUSP00000143648
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 1 129 9.9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197483
SMART Domains Protein: ENSMUSP00000143613
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 1 95 1.9e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159614
SMART Domains Protein: ENSMUSP00000124854
Gene: ENSMUSG00000025646

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 54 60 N/A INTRINSIC
low complexity region 67 78 N/A INTRINSIC
low complexity region 110 121 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200366
Predicted Effect probably benign
Transcript: ENSMUST00000198708
SMART Domains Protein: ENSMUSP00000142978
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 1 109 7.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200629
SMART Domains Protein: ENSMUSP00000142404
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 1 72 1.9e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199868
Predicted Effect probably benign
Transcript: ENSMUST00000200515
SMART Domains Protein: ENSMUSP00000142835
Gene: ENSMUSG00000025647

DomainStartEndE-ValueType
Pfam:Shisa 11 147 4.1e-42 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
PHENOTYPE: Nullizygous mice display premature death, cardiomyopathy, myocarditis, atrial thrombosis, and altered spleen morphology. Homozygotes for the D18N allele develop lupus-like disease with systemic inflammation, lymphoid hyperplasia, vasculitis, production of autoantibodies to dsDNA, and renal disease. [provided by MGI curators]
Allele List at MGI

All mutations/alleles(3) : Gene trapped(1) Targeted(2)
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,904,111 (GRCm39) V198A probably benign Het
Acot3 A T 12: 84,105,415 (GRCm39) D294V probably damaging Het
Dnajc10 T C 2: 80,176,985 (GRCm39) Y647H probably damaging Het
Eml6 G A 11: 29,856,330 (GRCm39) L67F probably damaging Het
Fbxw8 A G 5: 118,280,741 (GRCm39) C139R probably damaging Het
Fscb G T 12: 64,520,269 (GRCm39) A399D probably damaging Het
Gm21726 T C 13: 90,731,760 (GRCm39) noncoding transcript Het
Lama2 A T 10: 27,223,017 (GRCm39) V423D probably damaging Het
Mctp2 A T 7: 71,861,400 (GRCm39) I415N probably benign Het
Myh13 A G 11: 67,242,978 (GRCm39) T964A probably damaging Het
Ncf4 A G 15: 78,138,981 (GRCm39) probably benign Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Or3a1d G T 11: 74,238,371 (GRCm39) T13K possibly damaging Het
Or51m1 A T 7: 103,578,158 (GRCm39) N43Y probably damaging Het
Plch2 A T 4: 155,074,255 (GRCm39) V870E probably damaging Het
Prss55 A T 14: 64,314,539 (GRCm39) D210E probably damaging Het
Rad51ap2 A G 12: 11,507,198 (GRCm39) I373M possibly damaging Het
Rbm12 C A 2: 155,939,484 (GRCm39) G263* probably null Het
Rnf167 G T 11: 70,541,879 (GRCm39) probably null Het
Scn10a A G 9: 119,477,237 (GRCm39) I715T probably damaging Het
Spata31f1a A T 4: 42,850,528 (GRCm39) W543R probably benign Het
St8sia1 T C 6: 142,859,775 (GRCm39) N118S possibly damaging Het
Tas1r3 A G 4: 155,946,439 (GRCm39) probably null Het
Thbs2 A G 17: 14,893,535 (GRCm39) S882P probably benign Het
Tmem25 A G 9: 44,707,636 (GRCm39) S220P probably damaging Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Ttn T C 2: 76,544,545 (GRCm39) I32814V probably damaging Het
Vmn2r15 T A 5: 109,434,185 (GRCm39) R840* probably null Het
Vps13b A T 15: 35,640,012 (GRCm39) Q1294L possibly damaging Het
Zdhhc7 T C 8: 120,812,131 (GRCm39) N164D probably damaging Het
Other mutations in Trex1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4600:Trex1 UTSW 9 108,887,352 (GRCm39) missense possibly damaging 0.68
R6261:Trex1 UTSW 9 108,887,709 (GRCm39) missense probably benign 0.00
R7920:Trex1 UTSW 9 108,887,157 (GRCm39) missense unknown
R8057:Trex1 UTSW 9 108,887,397 (GRCm39) missense probably damaging 1.00
R9629:Trex1 UTSW 9 108,887,632 (GRCm39) missense probably damaging 0.97
R9712:Trex1 UTSW 9 108,887,805 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02