Incidental Mutation 'R1270:Glrx3'
ID 151276
Institutional Source Beutler Lab
Gene Symbol Glrx3
Ensembl Gene ENSMUSG00000031068
Gene Name glutaredoxin 3
Synonyms PICOT, Txnl2, PKC interacting cousin of thioredoxin
MMRRC Submission 039336-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1270 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 137039343-137070323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137055143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 95 (N95S)
Ref Sequence ENSEMBL: ENSMUSP00000147803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064404] [ENSMUST00000209696] [ENSMUST00000211496] [ENSMUST00000211769]
AlphaFold Q9CQM9
Predicted Effect probably benign
Transcript: ENSMUST00000064404
AA Change: N95S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066621
Gene: ENSMUSG00000031068
AA Change: N95S

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 benign
Transcript: ENSMUST00000209696
Predicted Effect probably benign
Transcript: ENSMUST00000211496
AA Change: N95S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000211769
Meta Mutation Damage Score 0.0641 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 97% (36/37)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 C T 11: 94,248,210 (GRCm39) R1129Q probably damaging Het
Adam7 T A 14: 68,765,118 (GRCm39) K93M probably damaging Het
Aldh1a2 T G 9: 71,188,988 (GRCm39) L301V probably benign Het
Alg9 A G 9: 50,698,872 (GRCm39) probably benign Het
Aspg C T 12: 112,082,881 (GRCm39) T187I probably damaging Het
Bltp1 T A 3: 37,006,333 (GRCm39) H1662Q probably damaging Het
C4a A G 17: 35,033,505 (GRCm39) noncoding transcript Het
Cdh2 T G 18: 16,760,614 (GRCm39) probably benign Het
Ceacam1 T C 7: 25,165,739 (GRCm39) probably null Het
Cep250 G A 2: 155,832,601 (GRCm39) V1509I probably benign Het
D130043K22Rik T C 13: 25,041,321 (GRCm39) S248P probably benign Het
Dgkd A T 1: 87,861,847 (GRCm39) M801L probably damaging Het
Edc4 A G 8: 106,617,896 (GRCm39) E1152G possibly damaging Het
Enkd1 A G 8: 106,430,533 (GRCm39) I334T probably damaging Het
Gli3 C T 13: 15,898,329 (GRCm39) A803V probably benign Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Kank2 A T 9: 21,684,056 (GRCm39) N724K probably damaging Het
Kctd20 A G 17: 29,185,905 (GRCm39) D416G possibly damaging Het
Lmtk3 A G 7: 45,443,252 (GRCm39) E645G probably damaging Het
Mrgpra9 A T 7: 46,902,531 (GRCm39) probably null Het
Muc1 T A 3: 89,139,414 (GRCm39) Y605N probably damaging Het
Or4a47 C T 2: 89,665,666 (GRCm39) V208M possibly damaging Het
Or8g17 A C 9: 38,930,543 (GRCm39) I98R possibly damaging Het
Prx T A 7: 27,218,355 (GRCm39) I952N probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Skint5 A T 4: 113,799,856 (GRCm39) Y90* probably null Het
Swt1 A T 1: 151,260,142 (GRCm39) N752K probably benign Het
Taar1 T C 10: 23,796,431 (GRCm39) V43A probably damaging Het
Tenm2 T C 11: 35,932,486 (GRCm39) N1702D probably damaging Het
Tff2 C T 17: 31,363,143 (GRCm39) probably null Het
Trim2 G A 3: 84,074,984 (GRCm39) A686V probably damaging Het
Ube2q2l A T 6: 136,378,785 (GRCm39) I15N probably damaging Het
Other mutations in Glrx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Glrx3 APN 7 137,054,442 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGCACCCACGGGTATTATTACCAC -3'
(R):5'- CATCAGGATCGGCTTCTTACCACAG -3'

Sequencing Primer
(F):5'- GGTCTATTCAAGCTGCGATTAC -3'
(R):5'- ACCACAGCGTGGTTCTTG -3'
Posted On 2014-01-29