Incidental Mutation 'IGL00333:Txnrd2'
ID332299
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 #IGL00333
Quality Score
Status
Chromosome16
Chromosomal Location18426384-18479073 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18438351 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 139 (V139A)
Ref Sequence ENSEMBL: ENSMUSP00000146030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115604] [ENSMUST00000115605] [ENSMUST00000115606] [ENSMUST00000126778] [ENSMUST00000144233] [ENSMUST00000177856] [ENSMUST00000178093] [ENSMUST00000205679] [ENSMUST00000206151] [ENSMUST00000206606]
Predicted Effect probably damaging
Transcript: ENSMUST00000115604
AA Change: V139A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111267
Gene: ENSMUSG00000075704
AA Change: V139A

DomainStartEndE-ValueType
low complexity region 8 36 N/A INTRINSIC
Pfam:FAD_binding_2 41 95 9.7e-9 PFAM
Pfam:GIDA 41 200 2.5e-6 PFAM
Pfam:Pyr_redox_2 41 323 7.8e-29 PFAM
Pfam:Pyr_redox_3 43 253 4.1e-9 PFAM
Pfam:Pyr_redox 220 302 4.9e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115605
AA Change: V120A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704
AA Change: V120A

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 damaging
Transcript: ENSMUST00000115606
AA Change: V139A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: V139A

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 probably benign
Transcript: ENSMUST00000126778
Predicted Effect probably benign
Transcript: ENSMUST00000131303
Predicted Effect probably benign
Transcript: ENSMUST00000138310
Predicted Effect probably damaging
Transcript: ENSMUST00000144233
AA Change: V103A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000177856
AA Change: V136A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: V136A

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 damaging
Transcript: ENSMUST00000178093
AA Change: V136A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: V136A

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 damaging
Transcript: ENSMUST00000205679
AA Change: V117A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000206151
AA Change: V139A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000206606
AA Change: V139A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b3 C T 10: 80,530,987 C259Y probably damaging Het
Bag6 T G 17: 35,144,651 D770E probably damaging Het
Ccdc8 T A 7: 16,996,042 D485E unknown Het
Cyp2c54 A C 19: 40,072,078 V153G probably damaging Het
Fam214a T C 9: 75,025,790 I1006T probably benign Het
Gm10471 A G 5: 26,086,493 M105T possibly damaging Het
Haus8 A G 8: 71,255,645 probably null Het
Hgf A T 5: 16,611,882 T499S possibly damaging Het
Ifitm1 T A 7: 140,969,624 *107R probably null Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Klk1b27 T A 7: 44,056,143 probably null Het
Lpin2 C A 17: 71,243,972 T709K probably damaging Het
Lrig3 T C 10: 126,013,148 L945P probably benign Het
Lrrn4 C T 2: 132,870,817 C362Y probably damaging Het
Map3k20 T C 2: 72,371,976 S184P probably damaging Het
Nr2f1 A T 13: 78,189,833 V231E probably damaging Het
Olfr103 A T 17: 37,336,583 Y216* probably null Het
Orc1 T C 4: 108,595,325 probably benign Het
Osr1 A C 12: 9,579,432 I102L probably benign Het
Pcbd1 A T 10: 61,092,170 Q37L probably benign Het
Pclo C T 5: 14,521,677 Q359* probably null Het
Rpgrip1 A T 14: 52,150,438 probably null Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Sspo A G 6: 48,470,453 T2184A probably benign Het
Synpo2 C T 3: 123,113,210 G819D probably damaging Het
Taar8b A G 10: 24,091,756 V180A possibly damaging Het
Tbc1d8 T C 1: 39,394,129 D324G probably damaging Het
Tcaf2 A T 6: 42,630,036 L328* probably null Het
Tmem253 T C 14: 52,017,961 L76P probably damaging Het
Tsc1 G A 2: 28,661,611 V46I probably damaging Het
Ttn A T 2: 76,949,081 F1152I probably benign Het
Ublcp1 T C 11: 44,460,770 D212G probably damaging Het
Utrn A T 10: 12,671,830 L1622Q probably damaging Het
Vmn2r103 A G 17: 19,793,102 T162A probably damaging Het
Other mutations in Txnrd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02949:Txnrd2 APN 16 18477706 missense probably benign 0.00
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
T0970:Txnrd2 UTSW 16 18441773 missense probably damaging 0.97
T0975:Txnrd2 UTSW 16 18475565 missense probably damaging 1.00
Posted On2015-08-05