Incidental Mutation 'IGL00678:Glrx3'
ID 10976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glrx3
Ensembl Gene ENSMUSG00000031068
Gene Name glutaredoxin 3
Synonyms PICOT, Txnl2, PKC interacting cousin of thioredoxin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00678
Quality Score
Status
Chromosome 7
Chromosomal Location 137039343-137070323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137054442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 75 (V75D)
Ref Sequence ENSEMBL: ENSMUSP00000147803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064404] [ENSMUST00000209696] [ENSMUST00000211496] [ENSMUST00000211769]
AlphaFold Q9CQM9
Predicted Effect probably damaging
Transcript: ENSMUST00000064404
AA Change: V75D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066621
Gene: ENSMUSG00000031068
AA Change: V75D

DomainStartEndE-ValueType
Pfam:Phosducin 6 102 6.3e-10 PFAM
Pfam:DIM1 13 112 4.5e-9 PFAM
Pfam:Thioredoxin 15 117 1.2e-21 PFAM
Pfam:Glutaredoxin 148 212 2.9e-19 PFAM
Pfam:Glutaredoxin 250 314 1.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209696
AA Change: V75D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211496
AA Change: V75D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211769
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality during late organogenesis and early fetal development. Mice heterozygous for this gene trapped allele exhibit increased response to cardiac injury and decreased cardiac muscle contractility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz2b T C 2: 59,836,527 (GRCm39) E2G unknown Het
Bbs2 T A 8: 94,815,795 (GRCm39) probably null Het
Cdk14 T C 5: 5,299,237 (GRCm39) probably benign Het
Cubn A T 2: 13,472,521 (GRCm39) I477N possibly damaging Het
Dtl A C 1: 191,278,738 (GRCm39) probably null Het
Ercc6l2 T A 13: 63,992,427 (GRCm39) V292E probably damaging Het
Eri3 A G 4: 117,422,088 (GRCm39) H122R probably benign Het
Ifi213 A G 1: 173,421,619 (GRCm39) probably benign Het
Ppp1cb T A 5: 32,642,682 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,304,309 (GRCm39) T66A probably damaging Het
Slco6d1 A G 1: 98,424,069 (GRCm39) S574G probably benign Het
Tas2r136 A T 6: 132,754,161 (GRCm39) L322Q probably damaging Het
Tead1 A G 7: 112,441,087 (GRCm39) probably null Het
Tsfm G A 10: 126,864,311 (GRCm39) Q135* probably null Het
Other mutations in Glrx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02435:Glrx3 APN 7 137,063,125 (GRCm39) missense possibly damaging 0.61
F5770:Glrx3 UTSW 7 137,060,882 (GRCm39) missense probably benign
R0347:Glrx3 UTSW 7 137,039,430 (GRCm39) missense unknown
R0359:Glrx3 UTSW 7 137,055,214 (GRCm39) missense possibly damaging 0.80
R1270:Glrx3 UTSW 7 137,055,143 (GRCm39) missense probably benign 0.02
R3692:Glrx3 UTSW 7 137,060,846 (GRCm39) splice site probably benign
R4909:Glrx3 UTSW 7 137,046,765 (GRCm39) missense probably damaging 1.00
R4920:Glrx3 UTSW 7 137,065,859 (GRCm39) missense probably null 1.00
R5509:Glrx3 UTSW 7 137,046,751 (GRCm39) missense probably damaging 1.00
R6831:Glrx3 UTSW 7 137,060,951 (GRCm39) missense possibly damaging 0.76
R7200:Glrx3 UTSW 7 137,066,165 (GRCm39) missense possibly damaging 0.81
R7347:Glrx3 UTSW 7 137,061,015 (GRCm39) missense possibly damaging 0.83
R7356:Glrx3 UTSW 7 137,054,453 (GRCm39) missense probably damaging 0.98
R7481:Glrx3 UTSW 7 137,046,751 (GRCm39) missense probably damaging 1.00
R7660:Glrx3 UTSW 7 137,060,954 (GRCm39) missense probably damaging 1.00
R7685:Glrx3 UTSW 7 137,060,920 (GRCm39) missense probably damaging 0.98
R8147:Glrx3 UTSW 7 137,064,736 (GRCm39) missense probably benign 0.00
R9627:Glrx3 UTSW 7 137,046,755 (GRCm39) missense probably benign 0.00
V7581:Glrx3 UTSW 7 137,060,882 (GRCm39) missense probably benign
Posted On 2012-12-06