Incidental Mutation 'R6965:Txnrd1'
ID 541956
Institutional Source Beutler Lab
Gene Symbol Txnrd1
Ensembl Gene ENSMUSG00000020250
Gene Name thioredoxin reductase 1
Synonyms TR alpha, TrxR1, TR1, TR
MMRRC Submission 045075-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6965 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 82669785-82733546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82717652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 212 (I212T)
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
AA Change: I212T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250
AA Change: I212T

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
AA Change: I143T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000219368
AA Change: I326T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000219442
AA Change: I212T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000219962
AA Change: I212T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,882,452 (GRCm39) Q1205* probably null Het
Als2 A G 1: 59,209,716 (GRCm39) F1422S possibly damaging Het
Anapc4 T C 5: 52,993,093 (GRCm39) V68A possibly damaging Het
Atmin T C 8: 117,683,777 (GRCm39) F479S probably damaging Het
Atp7b T C 8: 22,518,101 (GRCm39) T234A probably benign Het
Bpifa1 G A 2: 153,987,581 (GRCm39) G144S probably damaging Het
Brf2 A T 8: 27,614,586 (GRCm39) M200K probably benign Het
C1ql2 G A 1: 120,268,944 (GRCm39) C33Y probably damaging Het
Cdk18 A G 1: 132,045,319 (GRCm39) V269A probably damaging Het
Clcc1 T C 3: 108,580,625 (GRCm39) V313A probably damaging Het
Cntrl A T 2: 35,052,845 (GRCm39) T1117S probably benign Het
Col15a1 G A 4: 47,247,533 (GRCm39) E236K probably damaging Het
Comp T C 8: 70,829,164 (GRCm39) L278P probably damaging Het
Csnk2a1-ps3 C T 1: 156,352,119 (GRCm39) R107* probably null Het
Dlg5 C A 14: 24,199,498 (GRCm39) D1469Y probably damaging Het
Efna1 A T 3: 89,186,782 (GRCm39) V23D probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epb41l4b T C 4: 57,040,915 (GRCm39) Y516C probably damaging Het
Esr2 T C 12: 76,168,631 (GRCm39) D526G probably damaging Het
Fam184b T C 5: 45,712,477 (GRCm39) T514A probably benign Het
Fcmr A C 1: 130,803,724 (GRCm39) E176A possibly damaging Het
Fry T A 5: 150,339,685 (GRCm39) N1485K possibly damaging Het
Fut2 A G 7: 45,300,305 (GRCm39) C156R probably damaging Het
Gm5431 T C 11: 48,786,027 (GRCm39) Y116C probably benign Het
Gm5493 T A 17: 22,967,047 (GRCm39) V61E possibly damaging Het
Golga4 A T 9: 118,377,847 (GRCm39) Q456L probably damaging Het
Gpam T C 19: 55,063,041 (GRCm39) Y757C probably damaging Het
Iqcg C T 16: 32,851,174 (GRCm39) A266T probably benign Het
Lta4h G T 10: 93,307,759 (GRCm39) G331* probably null Het
Macf1 C A 4: 123,302,538 (GRCm39) V655F probably benign Het
Map3k13 T A 16: 21,740,900 (GRCm39) D742E probably benign Het
Mrgprb2 G A 7: 48,202,597 (GRCm39) L43F probably damaging Het
N4bp1 T C 8: 87,571,461 (GRCm39) R846G probably damaging Het
Nbn T C 4: 15,970,863 (GRCm39) I282T probably benign Het
Ncor1 C T 11: 62,244,059 (GRCm39) probably null Het
Or4a77 G T 2: 89,487,009 (GRCm39) P259T probably damaging Het
Or4d10c A G 19: 12,066,120 (GRCm39) F12S possibly damaging Het
Or8b12 T A 9: 37,657,433 (GRCm39) M1K probably null Het
Pclo A G 5: 14,731,976 (GRCm39) probably benign Het
Pde9a G T 17: 31,662,861 (GRCm39) V97L probably benign Het
Ptch1 T C 13: 63,672,881 (GRCm39) Y771C possibly damaging Het
R3hcc1l G A 19: 42,551,284 (GRCm39) D94N probably damaging Het
Rnpep T A 1: 135,190,858 (GRCm39) K602* probably null Het
Rph3al T C 11: 75,745,276 (GRCm39) Y156C probably damaging Het
Rundc1 A T 11: 101,324,737 (GRCm39) Y481F possibly damaging Het
Serpinb9f A G 13: 33,509,859 (GRCm39) K17R possibly damaging Het
Smpd3 T C 8: 106,986,513 (GRCm39) H459R probably damaging Het
Spata31 A C 13: 65,070,648 (GRCm39) Q932P possibly damaging Het
Srgap3 C T 6: 112,700,090 (GRCm39) A963T probably damaging Het
Syne1 A T 10: 5,179,120 (GRCm39) F4451L possibly damaging Het
Tbc1d19 T A 5: 54,014,266 (GRCm39) probably null Het
Thap12 T A 7: 98,364,669 (GRCm39) V279D probably damaging Het
Tmprss6 T C 15: 78,328,328 (GRCm39) D544G probably damaging Het
Tox2 A G 2: 163,164,930 (GRCm39) *523W probably null Het
Unc80 T C 1: 66,685,725 (GRCm39) I2283T probably benign Het
Vmn1r176 A G 7: 23,535,099 (GRCm39) I18T possibly damaging Het
Vmn2r101 C T 17: 19,811,284 (GRCm39) T456I probably benign Het
Vmn2r79 T A 7: 86,651,100 (GRCm39) H166Q probably benign Het
Zer1 A G 2: 29,991,059 (GRCm39) V723A possibly damaging Het
Other mutations in Txnrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Txnrd1 APN 10 82,711,496 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTCCTTCTTTGGAAAGTGGAAGATAC -3'
(R):5'- AAAGGTCTGCCTGCTTCTACC -3'

Sequencing Primer
(F):5'- TTGGAAAGTGGAAGATACTTGCATC -3'
(R):5'- TCAGCCTTTCACCGTGATGATAAAAC -3'
Posted On 2018-11-28