Incidental Mutation 'IGL00851:Prdx1'
ID 278010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdx1
Ensembl Gene ENSMUSG00000028691
Gene Name peroxiredoxin 1
Synonyms Paga, Trx dependent peroxide reductase 2, osteoblast specific factor 3, Prx I, macrophase stress protein 22kDa, macrophage 23kDa stress protein, PAG, Tdpx2, PrxI, thioredoxin dependent peroxide reductase 2, TDX2, OSF-3, MSP23, prx1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.643) question?
Stock # IGL00851
Quality Score
Status
Chromosome 4
Chromosomal Location 116542796-116557196 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 116550147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 110 (R110C)
Ref Sequence ENSEMBL: ENSMUSP00000119794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030454] [ENSMUST00000106470] [ENSMUST00000129315] [ENSMUST00000135573] [ENSMUST00000151129]
AlphaFold P35700
Predicted Effect probably benign
Transcript: ENSMUST00000030454
AA Change: R110C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030454
Gene: ENSMUSG00000028691
AA Change: R110C

DomainStartEndE-ValueType
Pfam:Redoxin 7 158 1.1e-18 PFAM
Pfam:AhpC-TSA 8 142 9e-44 PFAM
Pfam:1-cysPrx_C 162 176 8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106470
AA Change: R110C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000102078
Gene: ENSMUSG00000028691
AA Change: R110C

DomainStartEndE-ValueType
Pfam:Redoxin 7 157 2.7e-17 PFAM
Pfam:AhpC-TSA 8 142 6.1e-42 PFAM
Pfam:1-cysPrx_C 162 197 2.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129315
AA Change: R110C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000117007
Gene: ENSMUSG00000028691
AA Change: R110C

DomainStartEndE-ValueType
Pfam:Redoxin 7 123 3.3e-14 PFAM
Pfam:AhpC-TSA 8 123 1.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135573
AA Change: R110C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000114159
Gene: ENSMUSG00000028691
AA Change: R110C

DomainStartEndE-ValueType
Pfam:Redoxin 7 158 3.8e-18 PFAM
Pfam:AhpC-TSA 8 142 2.8e-43 PFAM
Pfam:1-cysPrx_C 162 197 2.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151129
AA Change: R110C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000119794
Gene: ENSMUSG00000028691
AA Change: R110C

DomainStartEndE-ValueType
Pfam:Redoxin 7 158 9.8e-19 PFAM
Pfam:AhpC-TSA 8 142 8e-44 PFAM
Coding Region Coverage
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 peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mutant mice exhibit defects in antioxidant defense that manifest as hemolytic anemia and malignancies. The phenotype is more severe in homozygous mutant mice which die prematurely. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,939,230 (GRCm39) F208S probably damaging Het
Ank3 T C 10: 69,710,663 (GRCm39) I396T probably damaging Het
Atp9b T G 18: 80,809,125 (GRCm39) E215A probably damaging Het
Ces1c T A 8: 93,849,745 (GRCm39) I70F probably benign Het
Cntnap2 T C 6: 46,461,006 (GRCm39) Y681H probably benign Het
Diaph2 A G X: 128,872,296 (GRCm39) K631R unknown Het
Gprasp2 A G X: 134,744,500 (GRCm39) T620A probably damaging Het
Hgd C T 16: 37,452,057 (GRCm39) S403F probably damaging Het
Hmcn1 T C 1: 150,458,052 (GRCm39) K5245E probably benign Het
Kng2 T C 16: 22,847,580 (GRCm39) D27G probably damaging Het
Myh1 C T 11: 67,108,736 (GRCm39) T1384M probably damaging Het
Myo1f A T 17: 33,800,938 (GRCm39) M260L probably benign Het
Plcb2 A G 2: 118,558,732 (GRCm39) I24T probably benign Het
Ptges3l T C 11: 101,314,616 (GRCm39) E93G possibly damaging Het
Ralgapa1 T C 12: 55,756,360 (GRCm39) D1126G possibly damaging Het
Rbm48 T C 5: 3,641,739 (GRCm39) T169A probably damaging Het
Serpinb3b T A 1: 107,087,435 (GRCm39) N25Y probably damaging Het
Tekt3 T C 11: 62,961,226 (GRCm39) Y132H probably benign Het
Tmod4 A T 3: 95,032,891 (GRCm39) E9V probably damaging Het
Other mutations in Prdx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Prdx1 APN 4 116,550,147 (GRCm39) missense probably benign 0.01
IGL00654:Prdx1 APN 4 116,550,162 (GRCm39) missense probably benign 0.03
IGL00769:Prdx1 APN 4 116,550,162 (GRCm39) missense probably benign 0.03
IGL02224:Prdx1 APN 4 116,549,064 (GRCm39) missense probably damaging 1.00
R1891:Prdx1 UTSW 4 116,556,451 (GRCm39) makesense probably null
R2568:Prdx1 UTSW 4 116,550,997 (GRCm39) missense probably benign 0.00
R4495:Prdx1 UTSW 4 116,556,416 (GRCm39) missense probably benign 0.13
R4971:Prdx1 UTSW 4 116,549,128 (GRCm39) critical splice donor site probably null
R5610:Prdx1 UTSW 4 116,550,124 (GRCm39) missense probably damaging 1.00
R5630:Prdx1 UTSW 4 116,556,414 (GRCm39) missense probably benign 0.00
R5828:Prdx1 UTSW 4 116,551,006 (GRCm39) missense probably damaging 1.00
R7861:Prdx1 UTSW 4 116,550,935 (GRCm39) missense probably benign
R8312:Prdx1 UTSW 4 116,556,398 (GRCm39) missense possibly damaging 0.83
Z1176:Prdx1 UTSW 4 116,544,678 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16