Incidental Mutation 'R3692:Glrx3'
ID 268822
Institutional Source Beutler Lab
Gene Symbol Glrx3
Ensembl Gene ENSMUSG00000031068
Gene Name glutaredoxin 3
Synonyms PICOT, Txnl2, PKC interacting cousin of thioredoxin
MMRRC Submission 040687-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3692 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 137039343-137070323 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 137060846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064404] [ENSMUST00000209696] [ENSMUST00000211496] [ENSMUST00000211769]
AlphaFold Q9CQM9
Predicted Effect probably benign
Transcript: ENSMUST00000064404
SMART Domains Protein: ENSMUSP00000066621
Gene: ENSMUSG00000031068

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
Predicted Effect probably benign
Transcript: ENSMUST00000211769
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (42/43)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a T C 5: 121,657,385 (GRCm39) D636G probably damaging Het
Adgrv1 A G 13: 81,672,719 (GRCm39) V2218A possibly damaging Het
Ano5 T A 7: 51,240,327 (GRCm39) Y752N probably damaging Het
Bltp2 A G 11: 78,160,335 (GRCm39) D598G probably damaging Het
Calca T C 7: 114,233,796 (GRCm39) E45G probably damaging Het
Cdk8 C T 5: 146,220,478 (GRCm39) R166* probably null Het
Chsy1 T A 7: 65,821,001 (GRCm39) M412K probably damaging Het
Cic T A 7: 24,988,338 (GRCm39) Y1675* probably null Het
Col1a2 T A 6: 4,510,710 (GRCm39) D53E possibly damaging Het
Dennd6b A G 15: 89,071,030 (GRCm39) probably benign Het
Fut10 T A 8: 31,726,048 (GRCm39) Y268N possibly damaging Het
Gucy1b2 T A 14: 62,642,076 (GRCm39) N697I probably damaging Het
Ifi208 T C 1: 173,510,438 (GRCm39) S198P possibly damaging Het
Krt34 A G 11: 99,929,857 (GRCm39) V213A probably damaging Het
Lats2 T C 14: 57,928,998 (GRCm39) N959S probably damaging Het
Mat1a A G 14: 40,843,338 (GRCm39) Y288C probably damaging Het
Mtif2 A T 11: 29,490,718 (GRCm39) H474L probably benign Het
Myh8 A G 11: 67,192,744 (GRCm39) I1512V probably damaging Het
Nkx2-6 T C 14: 69,409,476 (GRCm39) S76P probably benign Het
Noxred1 G A 12: 87,280,240 (GRCm39) R31W probably benign Het
Or14c46 T A 7: 85,918,703 (GRCm39) Q98L probably damaging Het
Or4a69 T A 2: 89,313,240 (GRCm39) M80L probably benign Het
Pcdhb16 C A 18: 37,611,340 (GRCm39) T100K probably benign Het
Pcdhga10 T C 18: 37,881,384 (GRCm39) C382R probably damaging Het
Pdgfra A T 5: 75,349,948 (GRCm39) Y944F possibly damaging Het
Pkhd1 A G 1: 20,625,353 (GRCm39) I741T possibly damaging Het
Ppp1r10 A G 17: 36,241,760 (GRCm39) D845G unknown Het
Rfk C A 19: 17,376,834 (GRCm39) probably null Het
Rgs11 C T 17: 26,423,302 (GRCm39) probably benign Het
Spata31d1b T C 13: 59,865,705 (GRCm39) V951A probably benign Het
St3gal5 T C 6: 72,126,013 (GRCm39) V286A probably benign Het
St7l T C 3: 104,798,870 (GRCm39) M320T probably benign Het
Tnfrsf1b G T 4: 144,954,092 (GRCm39) Q86K probably benign Het
Tox T C 4: 6,697,535 (GRCm39) I423V probably benign Het
Tpbpa T A 13: 61,087,827 (GRCm39) H88L probably benign Het
Vmn1r236 A G 17: 21,507,068 (GRCm39) Y62C probably benign Het
Ythdc1 A G 5: 86,970,526 (GRCm39) I399M probably damaging Het
Zfp948 T G 17: 21,807,838 (GRCm39) D343E probably benign Het
Zswim6 A G 13: 107,863,076 (GRCm39) noncoding transcript 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
R1270:Glrx3 UTSW 7 137,055,143 (GRCm39) missense probably benign 0.02
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'- ACACTGGGTGGCAATCACTG -3'
(R):5'- TAGGAAAGTGTGCTCTGAACTG -3'

Sequencing Primer
(F):5'- TGGCAATCACTGTGCGG -3'
(R):5'- AGTGTGCTCTGAACTGTCTTTATAAG -3'
Posted On 2015-02-19