Incidental Mutation 'IGL00654:Prdx1'
ID 277850
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 # IGL00654
Quality Score
Status
Chromosome 4
Chromosomal Location 116542796-116557196 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116550162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 115 (D115N)
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: D115N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030454
Gene: ENSMUSG00000028691
AA Change: D115N

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: D115N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102078
Gene: ENSMUSG00000028691
AA Change: D115N

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: D115N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117007
Gene: ENSMUSG00000028691
AA Change: D115N

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: D115N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000114159
Gene: ENSMUSG00000028691
AA Change: D115N

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: D115N

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119794
Gene: ENSMUSG00000028691
AA Change: D115N

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 T C 14: 68,886,877 (GRCm39) T46A probably benign Het
Cmya5 G A 13: 93,230,669 (GRCm39) S1473L probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dcbld1 A C 10: 52,188,945 (GRCm39) I186L probably benign Het
Dgkh A C 14: 78,847,033 (GRCm39) M367R possibly damaging Het
Myb T C 10: 21,017,725 (GRCm39) D622G probably damaging Het
Nbeal1 A G 1: 60,234,170 (GRCm39) probably benign Het
Nlrp14 G T 7: 106,795,351 (GRCm39) L211F probably damaging Het
Pbrm1 T A 14: 30,754,361 (GRCm39) probably benign Het
Pcdhb13 A T 18: 37,576,774 (GRCm39) D384V possibly damaging Het
Ppl T C 16: 4,905,172 (GRCm39) I1708V possibly damaging Het
Prep C T 10: 44,991,269 (GRCm39) R312W probably damaging Het
Rpap2 A T 5: 107,751,497 (GRCm39) probably benign Het
Rubcn A T 16: 32,644,747 (GRCm39) probably null Het
Sumf2 G T 5: 129,882,918 (GRCm39) probably benign Het
Tek A G 4: 94,715,538 (GRCm39) T359A probably benign Het
Thrap3 C T 4: 126,059,371 (GRCm39) G892S probably benign Het
Tlr12 C T 4: 128,511,233 (GRCm39) G339E probably benign Het
Usp39 A G 6: 72,305,607 (GRCm39) L392P probably damaging Het
Wbp2nl T C 15: 82,198,411 (GRCm39) V316A probably benign Het
Other mutations in Prdx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Prdx1 APN 4 116,550,147 (GRCm39) missense probably benign 0.01
IGL00769:Prdx1 APN 4 116,550,162 (GRCm39) missense probably benign 0.03
IGL00851:Prdx1 APN 4 116,550,147 (GRCm39) missense probably benign 0.01
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