Incidental Mutation 'R2698:Glrx'
ID 476707
Institutional Source Beutler Lab
Gene Symbol Glrx
Ensembl Gene ENSMUSG00000021591
Gene Name glutaredoxin
Synonyms Grx1, TTase, D13Wsu156e
MMRRC Submission 040436-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R2698 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 75988004-75998270 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 75988065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022082] [ENSMUST00000220523] [ENSMUST00000223120]
AlphaFold Q9QUH0
Predicted Effect probably null
Transcript: ENSMUST00000022082
SMART Domains Protein: ENSMUSP00000022082
Gene: ENSMUSG00000021591

DomainStartEndE-ValueType
Pfam:DUF836 14 91 1.3e-7 PFAM
Pfam:Glutaredoxin 15 80 3.8e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000220523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222530
Predicted Effect probably null
Transcript: ENSMUST00000223120
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (63/63)
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. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele do not exhibit any increased injury in response to oxidative insults to the heart or lungs but mouse embryonic fibroblast derived from these embryos are more sensative to diquat and paraqut and more resistant to apoptosis induced by TNF-alpha plus actinomyosin D. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,578,862 (GRCm39) R901G possibly damaging Het
Abhd18 T A 3: 40,885,401 (GRCm39) M262K probably benign Het
Ano2 C A 6: 125,689,309 (GRCm39) L145I probably benign Het
Ckap5 T C 2: 91,408,426 (GRCm39) W874R probably damaging Het
Cox4i1 G T 8: 121,396,102 (GRCm39) probably benign Het
Cwc27 A T 13: 104,943,259 (GRCm39) N94K probably damaging Het
Dcaf11 T C 14: 55,804,342 (GRCm39) S372P probably damaging Het
Dpysl4 A G 7: 138,676,681 (GRCm39) N356S probably damaging Het
Dusp8 A G 7: 141,635,701 (GRCm39) probably benign Het
Erc2 G A 14: 27,993,662 (GRCm39) V894M probably benign Het
Fbxo28 T A 1: 182,144,719 (GRCm39) I282F probably benign Het
Fsd2 T C 7: 81,195,608 (GRCm39) T434A probably damaging Het
Gabra4 T C 5: 71,729,421 (GRCm39) H453R probably benign Het
Gm11541 A T 11: 94,586,441 (GRCm39) L102* probably null Het
Gm5113 T A 7: 29,878,150 (GRCm39) Y79* probably null Het
Gpr87 T A 3: 59,086,587 (GRCm39) N306I probably damaging Het
Hydin T A 8: 111,336,561 (GRCm39) Y5113N possibly damaging Het
Iqsec3 C T 6: 121,390,430 (GRCm39) probably benign Het
Kbtbd8 C A 6: 95,103,570 (GRCm39) Y406* probably null Het
Lamb1 G T 12: 31,348,882 (GRCm39) R590L probably benign Het
Lin54 A T 5: 100,628,109 (GRCm39) N31K probably damaging Het
Lnpk T C 2: 74,367,845 (GRCm39) E165G probably damaging Het
Lrp4 C T 2: 91,305,557 (GRCm39) R276C probably damaging Het
Lrrc7 T A 3: 157,841,028 (GRCm39) T1384S probably benign Het
Mia2 T C 12: 59,217,780 (GRCm39) probably null Het
Morc2a T C 11: 3,635,400 (GRCm39) V797A probably damaging Het
Mrps23 T C 11: 88,096,193 (GRCm39) probably benign Het
Muc17 A T 5: 137,175,484 (GRCm39) I62K probably damaging Het
Nlrp4g T A 9: 124,349,630 (GRCm38) noncoding transcript Het
Nptx1 A T 11: 119,435,669 (GRCm39) probably benign Het
Or1j20 T A 2: 36,760,208 (GRCm39) I210K possibly damaging Het
Pabpc1l T G 2: 163,886,302 (GRCm39) probably null Het
Pdcd6ip A T 9: 113,503,575 (GRCm39) probably null Het
Plcg1 A G 2: 160,603,383 (GRCm39) T1185A possibly damaging Het
Plcxd1 A G 5: 110,250,349 (GRCm39) Q230R probably benign Het
Psme4 T A 11: 30,824,282 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptch1 T A 13: 63,690,038 (GRCm39) N320Y probably damaging Het
Qars1 G A 9: 108,385,642 (GRCm39) V60I possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rhag T C 17: 41,147,367 (GRCm39) S410P probably damaging Het
Rnf213 A G 11: 119,300,970 (GRCm39) K297E probably benign Het
Rps6ka4 T C 19: 6,814,720 (GRCm39) E294G probably benign Het
Scaf4 T A 16: 90,041,244 (GRCm39) I695F unknown Het
Scrn2 T C 11: 96,923,122 (GRCm39) probably benign Het
Scx T A 15: 76,342,363 (GRCm39) C188S probably damaging Het
Sdk1 G T 5: 142,197,805 (GRCm39) V1893L possibly damaging Het
Sema5a C A 15: 32,673,546 (GRCm39) Q795K probably damaging Het
Slc24a3 A G 2: 145,455,487 (GRCm39) S459G probably benign Het
Smurf1 A G 5: 144,820,372 (GRCm39) probably benign Het
Taar4 T C 10: 23,837,328 (GRCm39) Y313H probably damaging Het
Tmprss11c A G 5: 86,419,322 (GRCm39) F79S probably damaging Het
Tnfaip8l2 T A 3: 95,047,672 (GRCm39) I64F possibly damaging Het
Trbv13-1 A G 6: 41,093,372 (GRCm39) T102A probably damaging Het
Trpa1 A T 1: 14,976,222 (GRCm39) N160K probably damaging Het
Ttc22 A G 4: 106,496,435 (GRCm39) Y495C probably benign Het
Usp50 A G 2: 126,619,949 (GRCm39) I121T probably damaging Het
Vmn2r117 A G 17: 23,678,885 (GRCm39) S780P probably damaging Het
Vmn2r66 A T 7: 84,644,607 (GRCm39) V601D probably damaging Het
Wapl G A 14: 34,413,734 (GRCm39) A199T probably benign Het
Zfp658 A G 7: 43,222,969 (GRCm39) T415A possibly damaging Het
Zfp760 C T 17: 21,939,935 (GRCm39) T9I probably damaging Het
Zfp998 A G 13: 66,581,495 (GRCm39) S59P probably damaging Het
Other mutations in Glrx
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1940:Glrx UTSW 13 75,988,256 (GRCm39) missense probably benign 0.26
R5584:Glrx UTSW 13 75,995,341 (GRCm39) missense probably benign 0.17
R6250:Glrx UTSW 13 75,988,229 (GRCm39) missense probably damaging 1.00
R6478:Glrx UTSW 13 75,995,418 (GRCm39) critical splice donor site probably null
R8221:Glrx UTSW 13 75,995,346 (GRCm39) missense probably benign 0.17
R8896:Glrx UTSW 13 75,995,317 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-05-15