Incidental Mutation 'IGL02159:Txnrd3'
ID 282358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txnrd3
Ensembl Gene ENSMUSG00000000811
Gene Name thioredoxin reductase 3
Synonyms Tgr, TR2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.513) question?
Stock # IGL02159
Quality Score
Status
Chromosome 6
Chromosomal Location 89643988-89675529 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89669324 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 295 (R295H)
Ref Sequence ENSEMBL: ENSMUSP00000098730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000828] [ENSMUST00000101171]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000000828
AA Change: R409H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000828
Gene: ENSMUSG00000000811
AA Change: R409H

DomainStartEndE-ValueType
low complexity region 17 34 N/A INTRINSIC
Pfam:Glutaredoxin 40 102 9.2e-18 PFAM
Pfam:Pyr_redox_2 129 466 2.5e-66 PFAM
Pfam:FAD_binding_2 130 290 4.6e-9 PFAM
Pfam:Pyr_redox 309 386 9.6e-16 PFAM
Pfam:Pyr_redox_dim 486 599 2.7e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101171
AA Change: R295H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098730
Gene: ENSMUSG00000000811
AA Change: R295H

DomainStartEndE-ValueType
low complexity region 17 34 N/A INTRINSIC
Pfam:Glutaredoxin 40 102 1.5e-18 PFAM
Pfam:Thi4 116 222 3.9e-7 PFAM
Pfam:FAD_binding_2 130 264 3.7e-9 PFAM
Pfam:Pyr_redox_2 130 342 2.9e-24 PFAM
Pfam:Pyr_redox_dim 372 485 2.8e-31 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein catalyzes the reduction of thioredoxin, but unlike other mammalian thioredoxin reductases (TRs), it contains an additional glutaredoxin domain, and shows highest expression in testes. Like other TRs, it contains a C-terminal, penultimate selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is also evidence for the use of a non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG, leading to additional isoforms. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,610,665 L257S probably damaging Het
2210010C04Rik T C 6: 41,032,957 T148A probably benign Het
Abca13 A G 11: 9,314,545 S2976G probably benign Het
Afmid T C 11: 117,836,426 W267R probably damaging Het
Ahi1 A G 10: 21,058,177 K969R probably benign Het
Aldh1l1 A G 6: 90,594,656 probably benign Het
Ank3 A G 10: 69,808,892 H62R probably damaging Het
Arid2 T C 15: 96,358,912 probably benign Het
BC030867 G A 11: 102,260,165 probably null Het
Caps2 G A 10: 112,204,023 V457M probably benign Het
Capza1 T C 3: 104,864,371 D3G possibly damaging Het
Cav1 T A 6: 17,307,972 V41E possibly damaging Het
Celf2 G T 2: 6,604,177 C264* probably null Het
Clec4a2 C T 6: 123,139,326 S150L probably benign Het
D7Ertd443e A T 7: 134,349,400 D181E possibly damaging Het
Epyc A G 10: 97,670,631 E100G probably benign Het
Hdac11 A G 6: 91,173,102 I294M probably damaging Het
Hsdl1 A G 8: 119,566,414 V73A probably benign Het
Kmt2c A T 5: 25,311,343 S2501T probably benign Het
Lrrc41 T A 4: 116,088,486 F133I probably benign Het
Map3k19 C A 1: 127,823,170 G815C probably benign Het
Muc13 C A 16: 33,799,479 T199K unknown Het
Nif3l1 G T 1: 58,447,946 probably null Het
Nlrp12 A T 7: 3,249,545 probably benign Het
Nup205 T C 6: 35,189,178 S244P probably damaging Het
Olfr1353 A T 10: 78,969,901 N84I probably damaging Het
Parl G A 16: 20,280,088 probably benign Het
Pax8 A G 2: 24,440,788 I211T possibly damaging Het
Pglyrp4 A G 3: 90,730,853 E158G possibly damaging Het
Plekhm1 A G 11: 103,380,231 L478P probably benign Het
Serpina1a C T 12: 103,854,706 G338R probably damaging Het
Serpina5 T C 12: 104,105,298 L388P possibly damaging Het
Sorbs1 A G 19: 40,327,596 V367A probably damaging Het
Srgap2 A G 1: 131,319,666 probably benign Het
Surf1 A G 2: 26,915,651 L26P probably damaging Het
Taf4 A G 2: 179,938,470 S486P probably benign Het
Tdrd6 A T 17: 43,628,390 V589E probably damaging Het
Tuba3b T G 6: 145,619,666 S287A probably benign Het
Ubr5 G T 15: 37,991,379 probably benign Het
Unc45b C T 11: 82,940,181 probably benign Het
Usp32 A G 11: 85,005,802 probably null Het
Utp23 G A 15: 51,882,365 R87K probably benign Het
Vps8 T C 16: 21,466,484 I405T possibly damaging Het
Other mutations in Txnrd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Txnrd3 APN 6 89654147 missense probably benign 0.15
IGL01763:Txnrd3 APN 6 89661555 missense probably damaging 0.97
IGL02238:Txnrd3 APN 6 89656135 missense probably benign 0.02
IGL02452:Txnrd3 APN 6 89674795 makesense probably null
R1054:Txnrd3 UTSW 6 89650561 nonsense probably null
R3522:Txnrd3 UTSW 6 89663075 critical splice acceptor site probably null
R5108:Txnrd3 UTSW 6 89673034 missense probably benign 0.33
R5653:Txnrd3 UTSW 6 89654085 missense probably benign 0.25
R6159:Txnrd3 UTSW 6 89663194 critical splice donor site probably null
R6246:Txnrd3 UTSW 6 89651541 missense probably benign 0.01
R6519:Txnrd3 UTSW 6 89654423 critical splice donor site probably null
R6661:Txnrd3 UTSW 6 89654152 nonsense probably null
R6685:Txnrd3 UTSW 6 89669915 missense possibly damaging 0.84
R7353:Txnrd3 UTSW 6 89661585 missense probably benign 0.02
R8987:Txnrd3 UTSW 6 89661495 missense possibly damaging 0.78
R9014:Txnrd3 UTSW 6 89654109 missense probably damaging 1.00
R9479:Txnrd3 UTSW 6 89663102 missense possibly damaging 0.48
R9506:Txnrd3 UTSW 6 89661479 missense possibly damaging 0.81
R9528:Txnrd3 UTSW 6 89672972 missense probably damaging 0.99
R9574:Txnrd3 UTSW 6 89663184 nonsense probably null
R9727:Txnrd3 UTSW 6 89674769 missense probably benign 0.02
R9802:Txnrd3 UTSW 6 89663194 critical splice donor site probably null
Posted On 2015-04-16