Incidental Mutation 'IGL02224:Prdx1'
| ID |
285259 |
| 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)
|
| Stock # |
IGL02224
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116542796-116557196 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116549064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 66
(F66L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030454]
[ENSMUST00000106470]
[ENSMUST00000129315]
[ENSMUST00000135573]
[ENSMUST00000151129]
|
| AlphaFold |
P35700 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030454
AA Change: F66L
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030454
Gene: ENSMUSG00000028691
AA Change: F66L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000106470
AA Change: F66L
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102078
Gene: ENSMUSG00000028691
AA Change: F66L
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000129315
AA Change: F66L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117007
Gene: ENSMUSG00000028691
AA Change: F66L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
123 |
3.3e-14 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
123 |
1.8e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135573
AA Change: F66L
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114159
Gene: ENSMUSG00000028691
AA Change: F66L
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000151129
AA Change: F66L
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119794
Gene: ENSMUSG00000028691
AA Change: F66L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Redoxin
|
7 |
158 |
9.8e-19 |
PFAM |
|
Pfam:AhpC-TSA
|
8 |
142 |
8e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156145
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
A |
13: 4,329,289 (GRCm39) |
T23S |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,726,616 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,361,810 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,760,682 (GRCm39) |
R1051C |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,110 (GRCm39) |
D309G |
probably benign |
Het |
| C130026L21Rik |
A |
G |
5: 111,730,291 (GRCm39) |
|
noncoding transcript |
Het |
| Cadm3 |
A |
G |
1: 173,165,628 (GRCm39) |
I344T |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,924,318 (GRCm39) |
T370A |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,741,534 (GRCm39) |
S2462T |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,937,332 (GRCm39) |
N739Y |
probably benign |
Het |
| Ensa |
T |
C |
3: 95,535,990 (GRCm39) |
S108P |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,545,281 (GRCm39) |
|
probably null |
Het |
| Fbp1 |
T |
A |
13: 63,035,821 (GRCm39) |
T13S |
probably damaging |
Het |
| Flrt2 |
C |
A |
12: 95,746,802 (GRCm39) |
T380K |
possibly damaging |
Het |
| Gpatch11 |
T |
C |
17: 79,148,522 (GRCm39) |
|
probably benign |
Het |
| Hagh |
A |
G |
17: 25,071,861 (GRCm39) |
D29G |
probably damaging |
Het |
| Hmmr |
T |
C |
11: 40,600,831 (GRCm39) |
Q513R |
unknown |
Het |
| Hoxb8 |
T |
C |
11: 96,173,981 (GRCm39) |
S65P |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,169,271 (GRCm39) |
|
probably benign |
Het |
| Lbp |
A |
G |
2: 158,148,669 (GRCm39) |
N27S |
probably damaging |
Het |
| Msh4 |
G |
A |
3: 153,595,822 (GRCm39) |
T76I |
possibly damaging |
Het |
| Nfat5 |
T |
C |
8: 108,071,447 (GRCm39) |
V281A |
probably benign |
Het |
| Or10ag53 |
C |
T |
2: 87,082,821 (GRCm39) |
S180F |
probably benign |
Het |
| Or13c25 |
A |
T |
4: 52,911,392 (GRCm39) |
V134D |
probably damaging |
Het |
| Or4p20 |
C |
T |
2: 88,254,052 (GRCm39) |
|
probably null |
Het |
| Or5b106 |
T |
A |
19: 13,123,120 (GRCm39) |
K301M |
probably damaging |
Het |
| Or5w16 |
T |
A |
2: 87,576,757 (GRCm39) |
C72* |
probably null |
Het |
| Phf11b |
A |
T |
14: 59,563,515 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,962,575 (GRCm39) |
|
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,538,459 (GRCm39) |
H108R |
probably damaging |
Het |
| Spta1 |
C |
A |
1: 174,045,255 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
A |
G |
2: 128,676,127 (GRCm39) |
I297V |
possibly damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,068 (GRCm39) |
R229G |
probably damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,174,960 (GRCm39) |
R524* |
probably null |
Het |
| Washc2 |
T |
A |
6: 116,197,530 (GRCm39) |
D254E |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp773 |
T |
C |
7: 7,135,975 (GRCm39) |
H207R |
probably benign |
Het |
|
| Other mutations in Prdx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL00851:Prdx1
|
APN |
4 |
116,550,147 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
Incidental Mutation