Incidental Mutation 'R4495:Prdx1'
ID |
330923 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
041583-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.643)
|
Stock # |
R4495 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116542796-116557196 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116556416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 188
(V188A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030453]
[ENSMUST00000030454]
[ENSMUST00000106470]
[ENSMUST00000135573]
|
AlphaFold |
P35700 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030453
|
SMART Domains |
Protein: ENSMUSP00000030453 Gene: ENSMUSG00000028690
Domain | Start | End | E-Value | Type |
Pfam:MMACHC
|
20 |
234 |
9.5e-102 |
PFAM |
low complexity region
|
243 |
257 |
N/A |
INTRINSIC |
low complexity region
|
268 |
277 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000030454
|
SMART Domains |
Protein: ENSMUSP00000030454 Gene: ENSMUSG00000028691
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 |
probably benign
Transcript: ENSMUST00000106470
AA Change: V188A
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000102078 Gene: ENSMUSG00000028691 AA Change: V188A
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 benign
Transcript: ENSMUST00000135573
AA Change: V188A
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000114159 Gene: ENSMUSG00000028691 AA Change: V188A
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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 |
Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
Cdh4 |
T |
C |
2: 179,422,182 (GRCm39) |
V102A |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
Cyp2b9 |
T |
A |
7: 25,900,180 (GRCm39) |
D329E |
probably benign |
Het |
Ddx47 |
T |
C |
6: 134,998,429 (GRCm39) |
F375S |
possibly damaging |
Het |
Dnah7b |
T |
G |
1: 46,124,792 (GRCm39) |
S154A |
probably benign |
Het |
Fry |
G |
T |
5: 150,233,928 (GRCm39) |
E133D |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,322,034 (GRCm39) |
L4562P |
probably damaging |
Het |
Ifnlr1 |
A |
T |
4: 135,433,079 (GRCm39) |
E505V |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,897,416 (GRCm39) |
E1050G |
possibly damaging |
Het |
Kidins220 |
T |
A |
12: 25,088,301 (GRCm39) |
|
probably null |
Het |
Klra10 |
T |
G |
6: 130,256,311 (GRCm39) |
E114D |
probably benign |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mrgpra3 |
T |
C |
7: 47,239,813 (GRCm39) |
I38V |
probably benign |
Het |
Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
Nrxn2 |
A |
T |
19: 6,581,429 (GRCm39) |
T412S |
probably benign |
Het |
Or4k37 |
T |
A |
2: 111,159,365 (GRCm39) |
N200K |
probably benign |
Het |
Palm3 |
C |
T |
8: 84,753,495 (GRCm39) |
R97C |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,099,445 (GRCm39) |
V848A |
probably benign |
Het |
Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
Rwdd2b |
T |
C |
16: 87,231,450 (GRCm39) |
T235A |
probably benign |
Het |
Scn1a |
T |
C |
2: 66,111,146 (GRCm39) |
|
probably null |
Het |
Sidt1 |
C |
T |
16: 44,102,841 (GRCm39) |
V295M |
probably damaging |
Het |
Sla |
T |
C |
15: 66,673,361 (GRCm39) |
T10A |
probably benign |
Het |
Slc22a20 |
A |
G |
19: 6,034,952 (GRCm39) |
S170P |
probably benign |
Het |
Syt6 |
C |
A |
3: 103,494,876 (GRCm39) |
C280* |
probably null |
Het |
Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
Tmprss11b |
T |
A |
5: 86,812,922 (GRCm39) |
K125* |
probably null |
Het |
Ugt1a6a |
T |
A |
1: 88,066,905 (GRCm39) |
L237H |
probably damaging |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Wdr53 |
A |
G |
16: 32,070,969 (GRCm39) |
T105A |
probably benign |
Het |
Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
Zfp704 |
T |
A |
3: 9,536,137 (GRCm39) |
S128C |
probably benign |
Het |
Zfp759 |
A |
G |
13: 67,286,989 (GRCm39) |
|
probably null |
Het |
Zfyve16 |
A |
T |
13: 92,625,075 (GRCm39) |
D1494E |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGAATTTGGCCAAGATAGG -3'
(R):5'- GGAAGAAAGGCTATCCATCCCC -3'
Sequencing Primer
(F):5'- CCAAGATAGGTCTCACTTGGCTAG -3'
(R):5'- CAGCCCTGTAGGAAAGGCTTATCTG -3'
|
Posted On |
2015-07-21 |