Incidental Mutation 'IGL02435:Glrx3'
ID293252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glrx3
Ensembl Gene ENSMUSG00000031068
Gene Nameglutaredoxin 3
SynonymsPKC interacting cousin of thioredoxin, Txnl2, PICOT
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02435
Quality Score
Status
Chromosome7
Chromosomal Location137437614-137468594 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 137461396 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 132 (N132S)
Ref Sequence ENSEMBL: ENSMUSP00000148144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064404] [ENSMUST00000209696] [ENSMUST00000211496] [ENSMUST00000211769]
Predicted Effect probably benign
Transcript: ENSMUST00000064404
AA Change: N257S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066621
Gene: ENSMUSG00000031068
AA Change: N257S

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 possibly damaging
Transcript: ENSMUST00000209696
AA Change: N132S

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000211496
AA Change: N257S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI314180 A G 4: 58,830,325 probably benign Het
Amph A G 13: 19,139,163 probably benign Het
Ankrd12 G T 17: 65,987,156 S427R probably damaging Het
Atp4a A G 7: 30,717,057 T420A probably benign Het
Braf C T 6: 39,646,766 S414N probably benign Het
C1rl T C 6: 124,508,873 L401P probably damaging Het
Elmo1 A T 13: 20,589,656 D612V probably damaging Het
Fbxo15 T C 18: 84,959,226 S88P probably damaging Het
Hamp G T 7: 30,943,899 Q29K probably benign Het
Igfbp2 G A 1: 72,852,086 R281Q probably damaging Het
Itih3 C T 14: 30,915,754 A483T probably damaging Het
Mrc1 C T 2: 14,248,860 Q231* probably null Het
Nif3l1 A G 1: 58,447,861 T69A possibly damaging Het
Ntrk1 A G 3: 87,788,732 F157S probably benign Het
Olfr1245 A G 2: 89,575,546 F60S probably damaging Het
Olfr1447 A T 19: 12,901,027 I251N probably damaging Het
Olfr694 A G 7: 106,689,503 V76A probably benign Het
Pck2 T C 14: 55,544,390 probably benign Het
Pdgfrb T C 18: 61,064,926 probably null Het
Ric8b A G 10: 84,980,076 N194S probably benign Het
Rlbp1 A G 7: 79,381,666 F105L probably damaging Het
Sde2 G T 1: 180,866,152 K402N probably damaging Het
Slc13a3 T C 2: 165,408,940 H461R possibly damaging Het
Spag17 A T 3: 99,982,444 I210F possibly damaging Het
Szt2 G A 4: 118,390,823 R735W probably damaging Het
Tspan6 T C X: 133,892,744 Y186C probably benign Het
Ugt8a A G 3: 125,867,320 S508P probably benign Het
Zfp217 T C 2: 170,119,453 D318G possibly damaging Het
Other mutations in Glrx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Glrx3 APN 7 137452713 missense probably damaging 1.00
F5770:Glrx3 UTSW 7 137459153 missense probably benign
R0347:Glrx3 UTSW 7 137437701 missense unknown
R0359:Glrx3 UTSW 7 137453485 missense possibly damaging 0.80
R1270:Glrx3 UTSW 7 137453414 missense probably benign 0.02
R3692:Glrx3 UTSW 7 137459117 splice site probably benign
R4909:Glrx3 UTSW 7 137445036 missense probably damaging 1.00
R4920:Glrx3 UTSW 7 137464130 missense probably null 1.00
R5509:Glrx3 UTSW 7 137445022 missense probably damaging 1.00
R6831:Glrx3 UTSW 7 137459222 missense possibly damaging 0.76
R7200:Glrx3 UTSW 7 137464436 missense possibly damaging 0.81
R7347:Glrx3 UTSW 7 137459286 missense possibly damaging 0.83
R7356:Glrx3 UTSW 7 137452724 missense probably damaging 0.98
R7481:Glrx3 UTSW 7 137445022 missense probably damaging 1.00
R7660:Glrx3 UTSW 7 137459225 missense probably damaging 1.00
R7685:Glrx3 UTSW 7 137459191 missense probably damaging 0.98
R8147:Glrx3 UTSW 7 137463007 missense probably benign 0.00
V7581:Glrx3 UTSW 7 137459153 missense probably benign
Posted On2015-04-16