Incidental Mutation 'IGL02949:Txnrd2'
ID364877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txnrd2
Ensembl Gene ENSMUSG00000075704
Gene Namethioredoxin reductase 2
SynonymsTR beta, TR3, TGR, ESTM573010
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02949
Quality Score
Status
Chromosome16
Chromosomal Location18426384-18479073 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 18477706 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 473 (S473A)
Ref Sequence ENSEMBL: ENSMUSP00000146143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115605] [ENSMUST00000115606] [ENSMUST00000177856] [ENSMUST00000178093] [ENSMUST00000205679] [ENSMUST00000206151] [ENSMUST00000206606]
Predicted Effect probably benign
Transcript: ENSMUST00000115605
SMART Domains Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704

DomainStartEndE-ValueType
low complexity region 8 36 N/A INTRINSIC
Pfam:FAD_binding_2 41 95 8.4e-7 PFAM
Pfam:GIDA 41 208 1.8e-4 PFAM
Pfam:Pyr_redox_2 41 365 1.2e-39 PFAM
Pfam:Pyr_redox_3 43 253 8.2e-7 PFAM
Pfam:Pyr_redox 220 302 5.7e-13 PFAM
Pfam:Pyr_redox_dim 388 477 3.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115606
AA Change: S504A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: S504A

DomainStartEndE-ValueType
low complexity region 8 36 N/A INTRINSIC
Pfam:Pyr_redox_2 40 375 2.4e-71 PFAM
Pfam:FAD_binding_2 41 90 2.9e-8 PFAM
Pfam:Pyr_redox 220 299 2.1e-15 PFAM
Pfam:Pyr_redox_dim 395 508 7.6e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156604
Predicted Effect probably benign
Transcript: ENSMUST00000177856
AA Change: S501A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: S501A

DomainStartEndE-ValueType
low complexity region 8 36 N/A INTRINSIC
Pfam:FAD_binding_2 41 95 1.3e-8 PFAM
Pfam:GIDA 41 240 6.2e-7 PFAM
Pfam:Pyr_redox_2 41 365 3.9e-38 PFAM
Pfam:Pyr_redox 226 302 1.3e-10 PFAM
Pfam:Pyr_redox_dim 395 508 1.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178093
AA Change: S470A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: S470A

DomainStartEndE-ValueType
low complexity region 8 36 N/A INTRINSIC
Pfam:FAD_binding_2 41 95 9e-7 PFAM
Pfam:GIDA 41 201 1.9e-4 PFAM
Pfam:Pyr_redox_2 41 365 2.3e-36 PFAM
Pfam:Pyr_redox 226 302 1.2e-8 PFAM
Pfam:Pyr_redox_dim 388 477 3.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205679
AA Change: S482A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206151
AA Change: S504A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206606
AA Change: S473A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232530
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene product belongs to the family of pyridine nucleotide-disulfide oxidoreductases. It is a mitochondrial enzyme that catalyzes the reduction of thioredoxin, and is implicated in the defense against oxidative stress. This protein contains a 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die at E13 due to severe anemia and growth retardation, resulting from perturbed cardiac development and augmented apoptosis of hematopoietic cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,617,920 V89I probably damaging Het
Abhd5 T C 9: 122,377,915 F89L possibly damaging Het
Akr1c13 T A 13: 4,198,594 V266E probably damaging Het
B4galt2 C T 4: 117,881,405 A72T probably benign Het
Ccdc141 T C 2: 77,027,594 Y1081C probably damaging Het
Coq8b T C 7: 27,256,613 V405A possibly damaging Het
Ddah2 A G 17: 35,061,800 K251E probably damaging Het
Dnah5 T C 15: 28,272,185 V1045A probably benign Het
Dpy19l1 A T 9: 24,421,180 M662K probably benign Het
Dpys A G 15: 39,826,883 V358A probably damaging Het
H2-D1 A G 17: 35,264,088 N198S probably benign Het
Hnrnpa1 T C 15: 103,242,111 V163A probably damaging Het
Hr C T 14: 70,559,785 R543C possibly damaging Het
Lct C T 1: 128,313,132 V245M probably benign Het
Lpl G A 8: 68,892,748 V135M probably damaging Het
Mblac1 T A 5: 138,194,857 C154S probably benign Het
Mmp9 T C 2: 164,951,119 F396S probably damaging Het
Mroh1 A T 15: 76,408,968 H314L probably damaging Het
Msantd4 T A 9: 4,385,196 L307Q probably damaging Het
Nol8 A G 13: 49,662,402 D662G probably benign Het
Nynrin G A 14: 55,872,380 S1648N probably damaging Het
Olfr243 A G 7: 103,717,220 I209V probably benign Het
Plcb2 C T 2: 118,719,109 probably null Het
Scyl2 T A 10: 89,660,301 N229I possibly damaging Het
Spryd3 C T 15: 102,118,109 E376K probably benign Het
Srr T G 11: 74,908,737 E304A probably benign Het
Srsf1 A G 11: 88,049,526 probably benign Het
Wdr18 T A 10: 79,965,055 C151S probably benign Het
Zfp282 C T 6: 47,897,914 T351I probably damaging Het
Other mutations in Txnrd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Txnrd2 APN 16 18438351 missense probably damaging 1.00
IGL00337:Txnrd2 APN 16 18477769 missense probably damaging 1.00
IGL01988:Txnrd2 APN 16 18456018 splice site probably benign
IGL02708:Txnrd2 APN 16 18468840 missense probably benign 0.38
IGL03292:Txnrd2 APN 16 18477729 missense possibly damaging 0.53
R0610:Txnrd2 UTSW 16 18472882 missense probably damaging 0.96
R0723:Txnrd2 UTSW 16 18440879 splice site probably benign
R1625:Txnrd2 UTSW 16 18438366 missense probably damaging 1.00
R3000:Txnrd2 UTSW 16 18454513 missense probably damaging 1.00
R4180:Txnrd2 UTSW 16 18426425 unclassified probably null
R4569:Txnrd2 UTSW 16 18456206 missense probably benign
R4570:Txnrd2 UTSW 16 18468804 missense probably benign 0.02
R4773:Txnrd2 UTSW 16 18440819 missense probably benign 0.15
R5385:Txnrd2 UTSW 16 18477692 missense probably damaging 1.00
R6074:Txnrd2 UTSW 16 18437547 missense probably damaging 1.00
R7247:Txnrd2 UTSW 16 18456072 missense probably damaging 0.99
R7630:Txnrd2 UTSW 16 18438390 missense possibly damaging 0.69
T0970:Txnrd2 UTSW 16 18441773 missense probably damaging 0.97
T0975:Txnrd2 UTSW 16 18475565 missense probably damaging 1.00
Posted On2015-12-18