Incidental Mutation 'IGL00769:Prdx1'
ID277872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdx1
Ensembl Gene ENSMUSG00000028691
Gene Nameperoxiredoxin 1
SynonymsOSF-3, macrophase stress protein 22kDa, Paga, osteoblast specific factor 3, Tdpx2, PrxI, Trx dependent peroxide reductase 2, thioredoxin dependent peroxide reductase 2, macrophage 23kDa stress protein, TDX2, prx1, MSP23, PAG, Prx I
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.579) question?
Stock #IGL00769
Quality Score
Status
Chromosome4
Chromosomal Location116685544-116700822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 116692965 bp
ZygosityHeterozygous
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]
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
1700001P01Rik A G 11: 97,771,581 F155S probably damaging Het
9930111J21Rik1 A G 11: 48,948,212 V516A possibly damaging Het
A730017C20Rik T C 18: 59,072,277 S88P probably damaging Het
Ambp G A 4: 63,144,165 T279I probably damaging Het
Ankrd28 A G 14: 31,743,365 V285A possibly damaging Het
Arfgef3 A G 10: 18,660,604 S220P probably benign Het
Atp9b G T 18: 80,912,853 H129N probably benign Het
Cdh10 C A 15: 18,985,099 P283Q possibly damaging Het
Cep295 A G 9: 15,326,144 S1941P probably damaging Het
Dmbt1 T A 7: 131,082,500 S575R probably damaging Het
Dock11 A G X: 36,004,062 N796S possibly damaging Het
Enam A T 5: 88,501,484 Y284F possibly damaging Het
F8 A T X: 75,334,180 probably benign Het
Fbxo42 C T 4: 141,180,449 T140M probably damaging Het
Galnt13 G A 2: 54,880,104 E303K probably benign Het
Mrgprb4 T A 7: 48,198,901 D93V probably benign Het
Msl3 T A X: 168,668,748 E215V probably damaging Het
Pglyrp3 A T 3: 92,014,622 probably benign Het
Psd3 A T 8: 67,908,679 probably benign Het
Rundc1 A G 11: 101,434,274 D602G probably damaging Het
Slc4a1ap T G 5: 31,553,777 Y742D probably damaging Het
Ugt1a6a C T 1: 88,139,050 P193S probably damaging Het
Vmn2r96 G A 17: 18,583,819 V252M probably benign Het
Wdr53 G A 16: 32,256,497 W173* probably null Het
Other mutations in Prdx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Prdx1 APN 4 116692965 missense probably benign 0.03
IGL00654:Prdx1 APN 4 116692950 missense probably benign 0.01
IGL00851:Prdx1 APN 4 116692950 missense probably benign 0.01
IGL02224:Prdx1 APN 4 116691867 missense probably damaging 1.00
R1891:Prdx1 UTSW 4 116699254 makesense probably null
R2568:Prdx1 UTSW 4 116693800 missense probably benign 0.00
R4495:Prdx1 UTSW 4 116699219 missense probably benign 0.13
R4971:Prdx1 UTSW 4 116691931 critical splice donor site probably null
R5610:Prdx1 UTSW 4 116692927 missense probably damaging 1.00
R5630:Prdx1 UTSW 4 116699217 missense probably benign 0.00
R5828:Prdx1 UTSW 4 116693809 missense probably damaging 1.00
R7861:Prdx1 UTSW 4 116693738 missense probably benign
R8312:Prdx1 UTSW 4 116699201 missense possibly damaging 0.83
Z1176:Prdx1 UTSW 4 116687481 missense probably benign 0.01
Posted On2015-04-16