Incidental Mutation 'R6250:Glrx'
ID 505934
Institutional Source Beutler Lab
Gene Symbol Glrx
Ensembl Gene ENSMUSG00000021591
Gene Name glutaredoxin
Synonyms Grx1, TTase, D13Wsu156e
MMRRC Submission 044367-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R6250 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 75988004-75998270 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75988229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 48 (I48F)
Ref Sequence ENSEMBL: ENSMUSP00000152829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022082] [ENSMUST00000220523] [ENSMUST00000223120]
AlphaFold Q9QUH0
Predicted Effect probably damaging
Transcript: ENSMUST00000022082
AA Change: I48F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022082
Gene: ENSMUSG00000021591
AA Change: I48F

DomainStartEndE-ValueType
Pfam:DUF836 14 91 1.3e-7 PFAM
Pfam:Glutaredoxin 15 80 3.8e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220523
AA Change: I48F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222530
Predicted Effect probably damaging
Transcript: ENSMUST00000223120
AA Change: I48F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (60/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T C 2: 150,681,667 (GRCm39) Y241C probably damaging Het
Ak9 T C 10: 41,265,030 (GRCm39) V929A possibly damaging Het
Ap3s1 T C 18: 46,887,514 (GRCm39) F49S probably damaging Het
Atp9b T C 18: 80,799,736 (GRCm39) H801R probably benign Het
B430218F22Rik A G 13: 118,523,944 (GRCm39) probably benign Het
Ccnd3 T A 17: 47,908,487 (GRCm39) L186* probably null Het
Cnbd1 T A 4: 19,098,255 (GRCm39) Q55L probably benign Het
Commd10 A G 18: 47,096,755 (GRCm39) E54G probably damaging Het
Cplx3 A G 9: 57,522,907 (GRCm39) V151A probably benign Het
D6Ertd527e G A 6: 87,088,194 (GRCm39) G119D unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Disp2 A T 2: 118,621,247 (GRCm39) I660F probably damaging Het
Eef1a2 A G 2: 180,792,853 (GRCm39) F211L possibly damaging Het
Epb41 A T 4: 131,717,184 (GRCm39) F323L probably damaging Het
Eps8l3 A T 3: 107,797,781 (GRCm39) I403F probably benign Het
Ercc5 T A 1: 44,203,209 (GRCm39) V282D probably damaging Het
Faim A T 9: 98,874,176 (GRCm39) M1L probably benign Het
Fbxo24 A G 5: 137,619,543 (GRCm39) F111L probably damaging Het
Fcgbpl1 G A 7: 27,850,139 (GRCm39) G1195D probably damaging Het
Gucy2g A T 19: 55,205,856 (GRCm39) L668Q probably damaging Het
Hectd4 A G 5: 121,477,561 (GRCm39) D2828G possibly damaging Het
Hivep2 T C 10: 14,007,503 (GRCm39) V1367A probably benign Het
Hrob A G 11: 102,145,888 (GRCm39) T55A probably benign Het
Ipo13 A G 4: 117,769,351 (GRCm39) V147A possibly damaging Het
Jchain T C 5: 88,674,034 (GRCm39) T37A probably benign Het
Kif1b A G 4: 149,298,100 (GRCm39) V1034A probably benign Het
Krt25 T A 11: 99,211,989 (GRCm39) N216I probably damaging Het
Mfsd4b1 T C 10: 39,879,106 (GRCm39) S264G possibly damaging Het
Mxra8 G T 4: 155,925,546 (GRCm39) R82L possibly damaging Het
Nlrp1b A T 11: 71,072,625 (GRCm39) I406N probably benign Het
Or13c7 T C 4: 43,854,363 (GRCm39) L18P possibly damaging Het
Or2y11 A T 11: 49,442,711 (GRCm39) I46F probably damaging Het
Or5h23 G A 16: 58,906,195 (GRCm39) S217F probably damaging Het
Pak5 T C 2: 136,016,189 (GRCm39) probably benign Het
Pcsk4 T C 10: 80,161,426 (GRCm39) R222G probably benign Het
Pik3cb A C 9: 98,976,651 (GRCm39) F149V probably benign Het
Plscr4 G A 9: 92,366,881 (GRCm39) R165Q possibly damaging Het
Ppp2r2a A T 14: 67,276,403 (GRCm39) V34E probably damaging Het
Prpf8 T G 11: 75,384,334 (GRCm39) S659R possibly damaging Het
Ptprd A G 4: 76,047,232 (GRCm39) S342P probably damaging Het
Pum2 T C 12: 8,794,755 (GRCm39) probably null Het
Ranbp3 T G 17: 56,984,208 (GRCm39) probably null Het
Rassf7 A G 7: 140,797,156 (GRCm39) E123G probably damaging Het
Rcor1 G T 12: 111,078,311 (GRCm39) A469S probably benign Het
Rcor3 G T 1: 191,785,196 (GRCm39) P524Q probably damaging Het
Rnf44 A T 13: 54,829,920 (GRCm39) probably null Het
Rtf1 T C 2: 119,505,658 (GRCm39) V37A unknown Het
Sdc4 A T 2: 164,273,138 (GRCm39) D57E probably damaging Het
Setbp1 T C 18: 78,901,217 (GRCm39) T817A probably benign Het
Setd1a A G 7: 127,390,471 (GRCm39) E506G unknown Het
Slc30a8 G A 15: 52,198,545 (GRCm39) R330Q probably benign Het
Snx22 C A 9: 65,976,923 (GRCm39) E14* probably null Het
Spata31d1a A G 13: 59,849,615 (GRCm39) S838P possibly damaging Het
Sprr4 G T 3: 92,407,770 (GRCm39) Q11K unknown Het
Trpm3 A G 19: 22,887,418 (GRCm39) N839S probably benign Het
Vps9d1 T C 8: 123,974,947 (GRCm39) probably null Het
Vwa3b T C 1: 37,090,966 (GRCm39) probably null Het
Ythdf1 T C 2: 180,552,893 (GRCm39) T414A probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign 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
R5584:Glrx UTSW 13 75,995,341 (GRCm39) missense probably benign 0.17
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'- GCATTACCGGACCATTACTTTC -3'
(R):5'- AGTCCTCTGGCTGCTTTGAAG -3'

Sequencing Primer
(F):5'- GGACCATTACTTTCAACTGCACG -3'
(R):5'- GCTTTGAAGGACAGAGCCC -3'
Posted On 2018-02-28