Incidental Mutation 'F6893:Txnrd1'
ID191
Institutional Source Beutler Lab
Gene Symbol Txnrd1
Ensembl Gene ENSMUSG00000020250
Gene Namethioredoxin reductase 1
SynonymsTR1, TR, TrxR1, TR alpha
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #F6893 (G3) of strain busy
Quality Score
Status Validated
Chromosome10
Chromosomal Location82833951-82897712 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 82866989 bp
ZygosityHomozygous
Amino Acid Change Glutamine to Stop codon at position 95 (Q95*)
Ref Sequence ENSEMBL: ENSMUSP00000147261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020484] [ENSMUST00000211623] [ENSMUST00000218694] [ENSMUST00000219368] [ENSMUST00000219442] [ENSMUST00000219962]
Predicted Effect probably benign
Transcript: ENSMUST00000020484
SMART Domains Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 13 350 9.7e-69 PFAM
Pfam:FAD_binding_2 14 69 2.6e-8 PFAM
Pfam:Pyr_redox 192 273 1.3e-18 PFAM
Pfam:Pyr_redox_dim 370 483 8.4e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000211623
AA Change: Q95*
Predicted Effect probably benign
Transcript: ENSMUST00000218694
Predicted Effect probably benign
Transcript: ENSMUST00000219368
Predicted Effect probably benign
Transcript: ENSMUST00000219442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219911
Predicted Effect probably benign
Transcript: ENSMUST00000219962
Meta Mutation Damage Score 0.65 question?
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 74.0%
Validation Efficiency 88% (165/188)
MGI Phenotype FUNCTION: This gene encodes a member of the family of pyridine nucleotide-disulfide oxidoreductases. This protein is a flavoenzyme, which uses NADPH for reduction of thioredoxins as well as other protein and nonprotein substrates, and plays a role in protection against oxidative stress. It contains a selenocysteine (Sec) residue, which is essential for catalytic activity. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit early embryonic lethality (by E10.5) and display severe growth retardation and fail to turn. Embryos also exhibit decreased cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 120,325,038 V1638M probably damaging Het
Agrn C T 4: 156,174,179 R972Q probably benign Het
Anxa3 T C 5: 96,824,994 probably benign Het
Bpifa6 G T 2: 153,987,158 D202Y probably damaging Het
Ccdc15 G A 9: 37,315,640 T346I probably damaging Homo
Celsr3 G A 9: 108,835,067 R1731H probably benign Het
Ces4a A G 8: 105,147,227 R443G possibly damaging Het
Chd2 T C 7: 73,507,872 Q175R possibly damaging Het
Dpyd T A 3: 118,804,134 probably null Het
Dscam G T 16: 97,056,460 H117N possibly damaging Het
F13a1 A G 13: 36,972,025 Y205H probably damaging Het
Fat3 A C 9: 16,006,789 L1446R probably damaging Homo
Golga4 T C 9: 118,553,457 L515S probably damaging Het
Hoxb1 A T 11: 96,365,902 T26S probably benign Het
Igsf10 T G 3: 59,331,060 T567P probably damaging Het
Lamb2 T C 9: 108,482,556 V365A probably benign Het
Mepe A G 5: 104,337,376 I127M possibly damaging Het
Mpi A T 9: 57,546,549 M230K probably benign Homo
Myh4 A G 11: 67,255,457 D1447G probably null Homo
Olfr161 A G 16: 3,593,163 I256V possibly damaging Het
Olfr350 A G 2: 36,850,807 T254A probably benign Het
Panx2 T C 15: 89,068,010 Y227H probably damaging Homo
Pdzd7 A G 19: 45,036,734 W441R probably damaging Het
Poldip2 A G 11: 78,519,194 I267M probably damaging Homo
Pros1 T A 16: 62,924,639 V539E probably damaging Het
Sacs T C 14: 61,212,976 M4157T probably benign Het
Slc45a3 A G 1: 131,981,337 E424G probably benign Homo
Slc9a1 A G 4: 133,422,146 E761G probably benign Homo
Stab2 G A 10: 86,855,171 P2178L probably damaging Het
Syt4 C T 18: 31,444,221 V27I possibly damaging Homo
Thumpd1 T A 7: 119,720,576 K56* probably null Het
Tpr A G 1: 150,393,562 K19E possibly damaging Homo
Ttll10 A G 4: 156,048,318 I74T probably benign Het
Zc3h7b A G 15: 81,778,671 E421G possibly damaging Homo
Zc3hc1 G T 6: 30,387,526 D51E probably benign Homo
Other mutations in Txnrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Txnrd1 APN 10 82875662 missense probably damaging 1.00
IGL00644:Txnrd1 APN 10 82885176 splice site probably benign
IGL01995:Txnrd1 APN 10 82877284 missense probably damaging 1.00
IGL02167:Txnrd1 APN 10 82881911 missense probably benign 0.01
IGL02368:Txnrd1 APN 10 82895974 splice site probably null
IGL02500:Txnrd1 APN 10 82879217 missense probably damaging 1.00
IGL02870:Txnrd1 APN 10 82895979 missense probably benign 0.13
IGL03188:Txnrd1 APN 10 82885046 missense possibly damaging 0.79
IGL03257:Txnrd1 APN 10 82885271 missense probably benign 0.00
R0092:Txnrd1 UTSW 10 82879802 missense probably damaging 1.00
R2019:Txnrd1 UTSW 10 82877373 missense probably benign 0.00
R2088:Txnrd1 UTSW 10 82883910 splice site probably benign
R2101:Txnrd1 UTSW 10 82881739 missense probably damaging 1.00
R2120:Txnrd1 UTSW 10 82887233 missense possibly damaging 0.86
R2696:Txnrd1 UTSW 10 82885282 missense probably benign 0.05
R4058:Txnrd1 UTSW 10 82885280 missense probably benign 0.03
R4059:Txnrd1 UTSW 10 82885280 missense probably benign 0.03
R4879:Txnrd1 UTSW 10 82881917 unclassified probably null
R5582:Txnrd1 UTSW 10 82895980 missense possibly damaging 0.72
R6870:Txnrd1 UTSW 10 82873208 missense probably benign 0.45
R6965:Txnrd1 UTSW 10 82881818 missense probably benign 0.02
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 364 of the Eid3transcript.  The mutated nucleotide introduces a premature stop codon at glutamine 95 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Eid3 gene encodes a 375 amino acid protein that acts as a repressor of nuclear receptor-dependent transcription possibly by interfering with CREBBP-dependent coactivation (Uniprot Q3V124). 
Posted On2010-05-03