Incidental Mutation 'IGL02185:Txn1'
ID 283582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txn1
Ensembl Gene ENSMUSG00000028367
Gene Name thioredoxin 1
Synonyms Trx1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02185
Quality Score
Status
Chromosome 4
Chromosomal Location 57943373-57956411 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57950883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 49 (Y49N)
Ref Sequence ENSEMBL: ENSMUSP00000030051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030051]
AlphaFold P10639
Predicted Effect probably benign
Transcript: ENSMUST00000030051
AA Change: Y49N

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030051
Gene: ENSMUSG00000028367
AA Change: Y49N

DomainStartEndE-ValueType
Pfam:DIM1 1 104 6e-8 PFAM
Pfam:Thioredoxin 2 104 4e-34 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a targeted null mutation die soon after implantation. In vitro, mutant embryos do not hatch, inner cell mass cells fail to proliferate, and trophoblasts do not attach to the feeder layer. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh5 A G 3: 138,156,815 (GRCm39) D167G probably benign Het
C9orf72 A T 4: 35,197,046 (GRCm39) W340R probably damaging Het
Cand2 G A 6: 115,766,471 (GRCm39) A359T probably benign Het
Cnnm2 T C 19: 46,751,434 (GRCm39) V408A probably benign Het
Eloa A G 4: 135,740,290 (GRCm39) probably benign Het
Ern2 T C 7: 121,772,598 (GRCm39) probably benign Het
Hs6st3 A G 14: 120,106,296 (GRCm39) probably null Het
Hydin A T 8: 111,233,108 (GRCm39) I1736F possibly damaging Het
Ifrd2 A T 9: 107,468,290 (GRCm39) I253F probably benign Het
Kctd7 G A 5: 130,181,299 (GRCm39) V241I possibly damaging Het
Lcp1 T C 14: 75,466,740 (GRCm39) F616L possibly damaging Het
Lyst C T 13: 13,835,678 (GRCm39) Q1787* probably null Het
Mapkbp1 A T 2: 119,845,144 (GRCm39) T342S possibly damaging Het
Mcph1 A G 8: 18,719,006 (GRCm39) probably benign Het
Mctp2 T C 7: 71,730,571 (GRCm39) H868R probably benign Het
Mefv T C 16: 3,533,714 (GRCm39) T186A probably benign Het
Nol9 T A 4: 152,142,368 (GRCm39) I666N probably damaging Het
Or51t4 T A 7: 102,597,721 (GRCm39) N16K probably damaging Het
Or6c205 G T 10: 129,086,904 (GRCm39) C167F possibly damaging Het
Or8b8 A C 9: 37,809,531 (GRCm39) Y277S probably damaging Het
Pum2 T C 12: 8,798,955 (GRCm39) probably null Het
Rpgrip1 A C 14: 52,349,685 (GRCm39) K24N possibly damaging Het
Ryr3 T A 2: 112,797,548 (GRCm39) T122S probably damaging Het
Sfn A G 4: 133,328,636 (GRCm39) S149P probably benign Het
Slc27a2 T A 2: 126,409,736 (GRCm39) V306D probably damaging Het
Slc35a1 A G 4: 34,675,584 (GRCm39) V81A probably benign Het
Trav21-dv12 A T 14: 54,113,955 (GRCm39) D25V probably benign Het
Ttn T C 2: 76,598,878 (GRCm39) H11018R possibly damaging Het
Ulk2 C T 11: 61,672,886 (GRCm39) A903T probably damaging Het
Vmn2r77 G A 7: 86,444,360 (GRCm39) M4I unknown Het
Vmn2r85 G T 10: 130,254,561 (GRCm39) L708I probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vrk2 T A 11: 26,485,638 (GRCm39) R117* probably null Het
Xpo6 A T 7: 125,712,980 (GRCm39) probably benign Het
Zdhhc14 C A 17: 5,803,157 (GRCm39) T420K probably benign Het
Zfp334 G T 2: 165,228,869 (GRCm39) probably benign Het
Zfp958 T A 8: 4,678,990 (GRCm39) C338* probably null Het
Other mutations in Txn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1720:Txn1 UTSW 4 57,943,922 (GRCm39) missense probably benign 0.10
R3689:Txn1 UTSW 4 57,950,846 (GRCm39) missense probably benign 0.18
R7585:Txn1 UTSW 4 57,945,199 (GRCm39) missense possibly damaging 0.50
Posted On 2015-04-16