Incidental Mutation 'IGL02452:Txnrd3'
ID293711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txnrd3
Ensembl Gene ENSMUSG00000000811
Gene Namethioredoxin reductase 3
SynonymsTgr, TR2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.606) question?
Stock #IGL02452
Quality Score
Status
Chromosome6
Chromosomal Location89643988-89675529 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to C at 89674795 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Glutamine at position 502 (*502Q)
Ref Sequence ENSEMBL: ENSMUSP00000098730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000828] [ENSMUST00000101171]
Predicted Effect probably null
Transcript: ENSMUST00000000828
AA Change: *616Q
SMART Domains Protein: ENSMUSP00000000828
Gene: ENSMUSG00000000811
AA Change: *616Q

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 null
Transcript: ENSMUST00000101171
AA Change: *502Q
SMART Domains Protein: ENSMUSP00000098730
Gene: ENSMUSG00000000811
AA Change: *502Q

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,941,970 V11F probably damaging Het
Alk A T 17: 71,902,625 Y941* probably null Het
Armc4 C T 18: 7,129,461 E906K probably damaging Het
Blm A T 7: 80,503,377 probably null Het
Blvrb T C 7: 27,459,340 V55A possibly damaging Het
Cdh23 T A 10: 60,317,942 T2288S probably damaging Het
Csnk1g1 T A 9: 66,007,785 M242K probably damaging Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Cyp2d26 T A 15: 82,792,626 H173L probably benign Het
Cyp2g1 T A 7: 26,811,446 S131T probably benign Het
Dupd1 G A 14: 21,702,922 T52I probably damaging Het
Dzip3 T A 16: 48,938,537 probably benign Het
Espl1 T C 15: 102,299,839 S427P probably damaging Het
Fasn A T 11: 120,808,180 D2424E probably benign Het
Flrt2 G A 12: 95,779,483 M198I probably benign Het
Gen1 A T 12: 11,242,575 S404R probably benign Het
Gm11596 A T 11: 99,792,980 C105S unknown Het
Gm8765 A T 13: 50,703,077 H917L probably damaging Het
Hdlbp A T 1: 93,417,511 V714D probably damaging Het
Igkv4-80 A G 6: 69,016,832 V25A probably benign Het
Igkv8-27 C T 6: 70,171,941 W76* probably null Het
Ikzf1 T C 11: 11,748,545 L132P probably damaging Het
Kcna6 C A 6: 126,738,480 C482F possibly damaging Het
Lhx9 A T 1: 138,841,842 L47Q probably damaging Het
Lrp4 T A 2: 91,474,002 D175E probably damaging Het
Lrrtm3 T C 10: 64,088,036 K451E probably damaging Het
Mcm9 C T 10: 53,541,557 V17M probably damaging Het
Mios T A 6: 8,222,492 S475R probably benign Het
Mmp24 C T 2: 155,815,788 R533C probably damaging Het
Moxd1 C T 10: 24,282,752 P435S probably damaging Het
Mta2 T A 19: 8,950,306 I497N probably benign Het
Mtus2 T C 5: 148,077,663 V422A probably benign Het
Ndufaf1 A T 2: 119,656,426 F260Y probably damaging Het
Nfasc C T 1: 132,620,924 probably null Het
Nid1 A T 13: 13,508,720 T1128S probably benign Het
Olfr583 A G 7: 103,051,931 D211G probably benign Het
Pcdh12 G A 18: 38,281,693 P793L probably benign Het
Pclo A T 5: 14,676,966 probably benign Het
Prpf31 T A 7: 3,634,186 N161K possibly damaging Het
Prpf6 T G 2: 181,649,085 N656K probably benign Het
Ptprn T A 1: 75,258,169 H258L probably benign Het
Rab19 A G 6: 39,389,798 T216A probably benign Het
Ryr3 A C 2: 112,833,990 L1652W probably damaging Het
Six2 A C 17: 85,685,378 S232R possibly damaging Het
Spag17 T C 3: 100,027,391 V663A probably benign Het
Spag5 A G 11: 78,304,623 N252S probably benign Het
Sptb C T 12: 76,609,036 probably null Het
Synj1 A G 16: 90,961,365 probably benign Het
Tekt2 T C 4: 126,324,852 H36R possibly damaging Het
Tjp1 A T 7: 65,312,655 M1258K probably 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
IGL02159:Txnrd3 APN 6 89669324 missense probably damaging 1.00
IGL02238:Txnrd3 APN 6 89656135 missense probably benign 0.02
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
Posted On2015-04-16