Incidental Mutation 'R3442:Gpx1'
ID 267423
Institutional Source Beutler Lab
Gene Symbol Gpx1
Ensembl Gene ENSMUSG00000063856
Gene Name glutathione peroxidase 1
Synonyms Gpx, cellular GPx, GSHPx-1, CGPx, GPx-1
MMRRC Submission 040660-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3442 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108216279-108217541 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 108216549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 13 (T13S)
Ref Sequence ENSEMBL: ENSMUSP00000081010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007959] [ENSMUST00000082429] [ENSMUST00000191997] [ENSMUST00000193987] [ENSMUST00000194701]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000007959
SMART Domains Protein: ENSMUSP00000007959
Gene: ENSMUSG00000007815

DomainStartEndE-ValueType
RHO 8 181 1.09e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000082429
AA Change: T13S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081010
Gene: ENSMUSG00000063856
AA Change: T13S

DomainStartEndE-ValueType
Pfam:GSHPx 14 128 5.6e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191997
SMART Domains Protein: ENSMUSP00000142257
Gene: ENSMUSG00000063856

DomainStartEndE-ValueType
Pfam:GSHPx 1 71 3.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193424
Predicted Effect probably benign
Transcript: ENSMUST00000193987
SMART Domains Protein: ENSMUSP00000141279
Gene: ENSMUSG00000063856

DomainStartEndE-ValueType
Pfam:GSHPx 1 72 6.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194701
SMART Domains Protein: ENSMUSP00000141967
Gene: ENSMUSG00000007815

DomainStartEndE-ValueType
RHO 8 165 8.9e-117 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (34/34)
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Knockout mice lacking this gene are highly sensitive to oxidants, and develop mature cataracts due to damage to the eye lens nucleus. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for targeted null mutations show increased sensitivity to the oxidative stress agents paraquat and hydrogen peroxide and to ischemia/reperfusion and cold-induced brain injury. Mutants also show paradoxical bradykinin-induced vasoconstriction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,246,583 (GRCm39) Y26* probably null Het
Adam30 T C 3: 98,069,886 (GRCm39) I573T probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cav3 G A 6: 112,449,402 (GRCm39) C140Y possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap91 T C 16: 38,154,168 (GRCm39) M126V probably benign Het
Dbt T A 3: 116,341,840 (GRCm39) D480E probably benign Het
Dmbt1 G A 7: 130,707,979 (GRCm39) C1407Y probably damaging Het
Frem3 C T 8: 81,339,669 (GRCm39) P654L probably damaging Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Grik3 C A 4: 125,587,763 (GRCm39) L628M probably damaging Het
Grik3 T A 4: 125,587,764 (GRCm39) L628Q probably damaging Het
Gsap A G 5: 21,483,125 (GRCm39) Y610C probably damaging Het
Gtf3c6 T A 10: 40,127,169 (GRCm39) E123V probably null Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Msmb A G 14: 31,872,173 (GRCm39) N55D probably benign Het
Mx1 T A 16: 97,257,431 (GRCm39) I109F probably damaging Het
Mynn T C 3: 30,667,712 (GRCm39) F471L probably damaging Het
Or9i2 T C 19: 13,816,370 (GRCm39) T56A possibly damaging Het
Otof T C 5: 30,529,033 (GRCm39) R1792G probably damaging Het
Sil1 A T 18: 35,458,449 (GRCm39) L182H probably damaging Het
Sla C T 15: 66,655,509 (GRCm39) G210D probably benign Het
Slc26a7 C T 4: 14,565,511 (GRCm39) V191M probably benign Het
Trrap A G 5: 144,729,062 (GRCm39) M659V probably benign Het
Ubxn6 G T 17: 56,376,049 (GRCm39) Q371K probably benign Het
Zfat A T 15: 67,956,402 (GRCm39) D1143E probably benign Het
Zfat C T 15: 67,973,430 (GRCm39) A1122T probably damaging Het
Zfp950 A T 19: 61,107,170 (GRCm39) C149* probably null Het
Other mutations in Gpx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1692:Gpx1 UTSW 9 108,216,674 (GRCm39) missense possibly damaging 0.95
R1833:Gpx1 UTSW 9 108,216,555 (GRCm39) missense possibly damaging 0.89
R4864:Gpx1 UTSW 9 108,216,594 (GRCm39) missense probably benign 0.35
R6640:Gpx1 UTSW 9 108,217,295 (GRCm39) missense probably damaging 1.00
R6838:Gpx1 UTSW 9 108,217,139 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTGAGACTTAGAGCTGGCTG -3'
(R):5'- CATTCCAGCTGTAGTACCAGAG -3'

Sequencing Primer
(F):5'- CTGCCAGCCGGAAAGAAAGC -3'
(R):5'- TGTCCGAACTGATTGCACG -3'
Posted On 2015-02-18