Incidental Mutation 'IGL00769:Prdx1'
ID 277872
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: 0.694) question?
Stock # IGL00769
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,839,039 (GRCm39) V516A possibly damaging Het
Ambp G A 4: 63,062,402 (GRCm39) T279I probably damaging Het
Ankrd28 A G 14: 31,465,322 (GRCm39) V285A possibly damaging Het
Arfgef3 A G 10: 18,536,352 (GRCm39) S220P probably benign Het
Atp9b G T 18: 80,956,068 (GRCm39) H129N probably benign Het
Cdh10 C A 15: 18,985,185 (GRCm39) P283Q possibly damaging Het
Cep295 A G 9: 15,237,440 (GRCm39) S1941P probably damaging Het
Dmbt1 T A 7: 130,684,230 (GRCm39) S575R probably damaging Het
Dock11 A G X: 35,267,715 (GRCm39) N796S possibly damaging Het
Enam A T 5: 88,649,343 (GRCm39) Y284F possibly damaging Het
F8 A T X: 74,377,786 (GRCm39) probably benign Het
Fbxo42 C T 4: 140,907,760 (GRCm39) T140M probably damaging Het
Galnt13 G A 2: 54,770,116 (GRCm39) E303K probably benign Het
Minar2 T C 18: 59,205,349 (GRCm39) S88P probably damaging Het
Mrgprb4 T A 7: 47,848,649 (GRCm39) D93V probably benign Het
Msl3 T A X: 167,451,744 (GRCm39) E215V probably damaging Het
Pglyrp3 A T 3: 91,921,929 (GRCm39) probably benign Het
Psd3 A T 8: 68,361,331 (GRCm39) probably benign Het
Rundc1 A G 11: 101,325,100 (GRCm39) D602G probably damaging Het
Slc4a1ap T G 5: 31,711,121 (GRCm39) Y742D probably damaging Het
Spmap1 A G 11: 97,662,407 (GRCm39) F155S probably damaging Het
Ugt1a6a C T 1: 88,066,772 (GRCm39) P193S probably damaging Het
Vmn2r96 G A 17: 18,804,081 (GRCm39) V252M probably benign Het
Wdr53 G A 16: 32,075,315 (GRCm39) W173* probably null 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
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