Incidental Mutation 'R5584:Glrx'
ID 438630
Institutional Source Beutler Lab
Gene Symbol Glrx
Ensembl Gene ENSMUSG00000021591
Gene Name glutaredoxin
Synonyms Grx1, TTase, D13Wsu156e
MMRRC Submission 043138-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R5584 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 75988004-75998270 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75995341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 87 (I87N)
Ref Sequence ENSEMBL: ENSMUSP00000152802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022082] [ENSMUST00000220523] [ENSMUST00000223120]
AlphaFold Q9QUH0
Predicted Effect probably benign
Transcript: ENSMUST00000022082
AA Change: I87N

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022082
Gene: ENSMUSG00000021591
AA Change: I87N

DomainStartEndE-ValueType
Pfam:DUF836 14 91 1.3e-7 PFAM
Pfam:Glutaredoxin 15 80 3.8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222530
Predicted Effect probably benign
Transcript: ENSMUST00000223120
AA Change: I87N

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.0%
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. 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,553,386 (GRCm39) G5496D probably damaging Het
Akr1c19 A T 13: 4,293,031 (GRCm39) Q262H probably damaging Het
Cntn5 T C 9: 9,661,457 (GRCm39) T1070A possibly damaging Het
Efcab14 T C 4: 115,621,794 (GRCm39) V358A possibly damaging Het
Epb41l4a G T 18: 33,987,324 (GRCm39) T351N probably damaging Het
Etaa1 A T 11: 17,897,406 (GRCm39) V237E possibly damaging Het
Ezh2 A T 6: 47,508,950 (GRCm39) N684K probably damaging Het
Flnc A G 6: 29,446,627 (GRCm39) T946A probably damaging Het
Fstl5 T A 3: 76,229,574 (GRCm39) I125N probably damaging Het
Gcsam A C 16: 45,440,226 (GRCm39) I90L probably benign Het
Hivep1 T A 13: 42,313,593 (GRCm39) N1944K probably benign Het
Lrp2 T C 2: 69,281,632 (GRCm39) D3913G probably damaging Het
Ltb4r1 T A 14: 56,004,844 (GRCm39) M49K possibly damaging Het
Mbip A G 12: 56,382,647 (GRCm39) I273T probably damaging Het
Mis18bp1 A T 12: 65,201,550 (GRCm39) S384T probably damaging Het
Nlrp4e T G 7: 23,020,602 (GRCm39) I363S probably benign Het
Nrg3 CCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGC 14: 39,194,654 (GRCm39) probably benign Het
Pcdha11 C A 18: 37,139,818 (GRCm39) D482E probably damaging Het
Plppr3 T C 10: 79,702,286 (GRCm39) Y262C probably damaging Het
Ppip5k2 T C 1: 97,678,366 (GRCm39) K284E probably damaging Het
Rabggta T C 14: 55,958,289 (GRCm39) N124S probably benign Het
Rbm46 C A 3: 82,771,465 (GRCm39) M383I probably benign Het
Rfx1 G A 8: 84,814,706 (GRCm39) probably null Het
Sema3d T C 5: 12,615,975 (GRCm39) V493A possibly damaging Het
Sema3d T C 5: 12,620,954 (GRCm39) V520A possibly damaging Het
Sis C G 3: 72,817,748 (GRCm39) W1488C probably damaging Het
Slc6a20a A G 9: 123,469,753 (GRCm39) F411S probably damaging Het
Srcap T A 7: 127,127,651 (GRCm39) N405K probably damaging Het
Thnsl1 C T 2: 21,218,223 (GRCm39) P138L probably damaging Het
Trim27 T A 13: 21,376,719 (GRCm39) I489N probably damaging Het
Triobp G A 15: 78,852,332 (GRCm39) V829I possibly damaging Het
Unc119 A G 11: 78,239,396 (GRCm39) D217G probably damaging Het
Ushbp1 T C 8: 71,843,623 (GRCm39) T272A possibly damaging Het
Zfpm2 A T 15: 40,965,933 (GRCm39) N806I probably benign Het
Znrf3 T C 11: 5,236,218 (GRCm39) E164G probably damaging Het
Other mutations in Glrx
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1940:Glrx UTSW 13 75,988,256 (GRCm39) missense probably benign 0.26
R2698:Glrx UTSW 13 75,988,065 (GRCm39) splice site probably null
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 PCR Primer
(F):5'- GACTATTTCTACGCTTAGACCATTG -3'
(R):5'- TCATTGGTACGGTTGATCCC -3'

Sequencing Primer
(F):5'- AGGCTCCTTAACCATCCT -3'
(R):5'- GGTACGGTTGATCCCTCTGTAAAAC -3'
Posted On 2016-10-26