Incidental Mutation 'IGL00470:Txnrd1'
ID 4687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txnrd1
Ensembl Gene ENSMUSG00000020250
Gene Name thioredoxin reductase 1
Synonyms TR alpha, TrxR1, TR1, TR
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00470
Quality Score
Chromosome 10
Chromosomal Location 82669785-82733546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 82711496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 42 (D42E)
Ref Sequence ENSEMBL: ENSMUSP00000151825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020484] [ENSMUST00000218694] [ENSMUST00000219368] [ENSMUST00000219442] [ENSMUST00000219962]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020484
AA Change: D42E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250
AA Change: D42E

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 benign
Transcript: ENSMUST00000218694
Predicted Effect probably damaging
Transcript: ENSMUST00000219368
AA Change: D156E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000219442
AA Change: D42E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219911
Predicted Effect probably damaging
Transcript: ENSMUST00000219962
AA Change: D42E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
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
4732463B04Rik G T 12: 84,090,578 (GRCm39) probably benign Het
Abcd1 T C X: 72,761,154 (GRCm39) L173P probably damaging Het
Adam18 T A 8: 25,118,149 (GRCm39) D41V probably damaging Het
Armh4 A T 14: 50,010,460 (GRCm39) S416T probably damaging Het
Aspa T G 11: 73,204,447 (GRCm39) probably benign Het
Cacna2d1 T A 5: 16,451,654 (GRCm39) probably benign Het
Cracd G A 5: 77,013,903 (GRCm39) probably benign Het
Cubn T A 2: 13,283,229 (GRCm39) I3570L probably benign Het
Cyp2j13 G A 4: 95,950,275 (GRCm39) P242L probably damaging Het
Cysrt1 T C 2: 25,129,513 (GRCm39) probably benign Het
Dchs1 A T 7: 105,407,414 (GRCm39) L2100H probably damaging Het
Ddb1 G A 19: 10,589,028 (GRCm39) A229T possibly damaging Het
Dst A T 1: 34,228,043 (GRCm39) I1554F probably damaging Het
Dvl3 C T 16: 20,349,689 (GRCm39) P554L probably damaging Het
Fcgbp C A 7: 27,774,511 (GRCm39) C28* probably null Het
Gm773 T C X: 55,247,373 (GRCm39) D53G probably benign Het
Hhat A G 1: 192,399,325 (GRCm39) Y272H probably damaging Het
Inpp5k T C 11: 75,536,351 (GRCm39) S310P probably benign Het
Kat2a G A 11: 100,596,210 (GRCm39) R782W probably damaging Het
Kcnh5 T C 12: 74,944,570 (GRCm39) D893G probably benign Het
Lama2 T C 10: 27,119,738 (GRCm39) T709A probably benign Het
Mcm8 G A 2: 132,669,457 (GRCm39) V281I probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Nup133 T G 8: 124,665,822 (GRCm39) D201A probably damaging Het
Oxct2a A G 4: 123,217,183 (GRCm39) L66P possibly damaging Het
Pcbp2 C T 15: 102,399,148 (GRCm39) A224V probably damaging Het
Phf8-ps T A 17: 33,284,837 (GRCm39) H655L probably benign Het
Pla2g4e G A 2: 120,015,719 (GRCm39) S275F probably benign Het
Pxk T C 14: 8,130,754 (GRCm38) F118L probably damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Sphkap A G 1: 83,255,631 (GRCm39) M706T possibly damaging Het
Tars3 T C 7: 65,338,656 (GRCm39) M689T probably benign Het
Trrap T C 5: 144,754,848 (GRCm39) V2008A probably damaging Het
Txndc2 A T 17: 65,945,569 (GRCm39) S203T probably benign Het
Zswim8 G A 14: 20,773,249 (GRCm39) D1746N probably damaging Het
Other mutations in Txnrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00644:Txnrd1 APN 10 82,721,010 (GRCm39) splice site probably benign
IGL01995:Txnrd1 APN 10 82,713,118 (GRCm39) missense probably damaging 1.00
IGL02167:Txnrd1 APN 10 82,717,745 (GRCm39) missense probably benign 0.01
IGL02368:Txnrd1 APN 10 82,731,808 (GRCm39) splice site probably null
IGL02500:Txnrd1 APN 10 82,715,051 (GRCm39) missense probably damaging 1.00
IGL02870:Txnrd1 APN 10 82,731,813 (GRCm39) missense probably benign 0.13
IGL03188:Txnrd1 APN 10 82,720,880 (GRCm39) missense possibly damaging 0.79
IGL03257:Txnrd1 APN 10 82,721,105 (GRCm39) missense probably benign 0.00
F6893:Txnrd1 UTSW 10 82,702,823 (GRCm39) nonsense probably null
R0092:Txnrd1 UTSW 10 82,715,636 (GRCm39) missense probably damaging 1.00
R2019:Txnrd1 UTSW 10 82,713,207 (GRCm39) missense probably benign 0.00
R2088:Txnrd1 UTSW 10 82,719,744 (GRCm39) splice site probably benign
R2101:Txnrd1 UTSW 10 82,717,573 (GRCm39) missense probably damaging 1.00
R2120:Txnrd1 UTSW 10 82,723,067 (GRCm39) missense possibly damaging 0.86
R2696:Txnrd1 UTSW 10 82,721,116 (GRCm39) missense probably benign 0.05
R4058:Txnrd1 UTSW 10 82,721,114 (GRCm39) missense probably benign 0.03
R4059:Txnrd1 UTSW 10 82,721,114 (GRCm39) missense probably benign 0.03
R4879:Txnrd1 UTSW 10 82,717,751 (GRCm39) splice site probably null
R5582:Txnrd1 UTSW 10 82,731,814 (GRCm39) missense possibly damaging 0.72
R6870:Txnrd1 UTSW 10 82,709,042 (GRCm39) missense probably benign 0.45
R6965:Txnrd1 UTSW 10 82,717,652 (GRCm39) missense probably benign 0.02
R7336:Txnrd1 UTSW 10 82,709,051 (GRCm39) missense probably benign 0.00
R7449:Txnrd1 UTSW 10 82,721,067 (GRCm39) nonsense probably null
R8350:Txnrd1 UTSW 10 82,717,759 (GRCm39) missense probably benign 0.02
R8369:Txnrd1 UTSW 10 82,710,480 (GRCm39) missense probably benign 0.01
R9201:Txnrd1 UTSW 10 82,719,821 (GRCm39) missense probably benign 0.00
R9652:Txnrd1 UTSW 10 82,720,390 (GRCm39) missense possibly damaging 0.63
RF019:Txnrd1 UTSW 10 82,720,934 (GRCm39) critical splice donor site probably null
Posted On 2012-04-20