Incidental Mutation 'IGL00644:Txnrd1'
ID 14668
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 # IGL00644
Quality Score
Status
Chromosome 10
Chromosomal Location 82669785-82733546 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 82721010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 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 benign
Transcript: ENSMUST00000218694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218724
Predicted Effect probably benign
Transcript: ENSMUST00000219368
Predicted Effect probably benign
Transcript: ENSMUST00000219442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219911
Predicted Effect probably benign
Transcript: ENSMUST00000219962
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: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cabcoco1 C T 10: 68,369,730 (GRCm39) E38K probably benign Het
Limch1 G T 5: 67,173,895 (GRCm39) A375S probably benign Het
Lman1 G A 18: 66,130,693 (GRCm39) Q165* probably null Het
Lrrc7 G A 3: 157,908,005 (GRCm39) Q260* probably null Het
Pdzph1 T C 17: 59,195,105 (GRCm39) D10G probably benign Het
Secisbp2l G A 2: 125,585,764 (GRCm39) P863S probably damaging Het
Slc6a14 T A X: 21,605,895 (GRCm39) I588K probably benign Het
Other mutations in Txnrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Txnrd1 APN 10 82,711,496 (GRCm39) missense probably damaging 1.00
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 2012-12-06