Incidental Mutation 'IGL01723:Epx'
| ID |
105182 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Epx
|
| Ensembl Gene |
ENSMUSG00000052234 |
| Gene Name |
eosinophil peroxidase |
| Synonyms |
EPO |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01723
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
87754826-87766362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87760228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 462
(R462H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049768]
|
| AlphaFold |
P49290 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049768
AA Change: R462H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234
AA Change: R462H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:An_peroxidase
|
146 |
690 |
8.3e-184 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125590
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peroxidase superfamily of enzymes that is produced by eosinophils and plays a critical role in eliminating tissue-invasive parasites. The encoded preproprotein undergoes proteolytic processing to generate a heterodimeric enzyme that forms a predominant component of the intracellular granules of eosinophils. Mice lacking the encoded protein exhibit resistance to ulcerative colitis induced by dextran sulfate. [provided by RefSeq, Jul 2016]
PHENOTYPE: Targeted deletion of this gene results in ultrastructural changes of the eosinophil secondary granule but does not significantly alter the course of inflammation or development of allergic pulmonary pathologies in an ovalbumin-challenge model of pulmonary inflammation. [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 |
|---|
| Abca12 |
G |
A |
1: 71,353,327 (GRCm39) |
A705V |
probably benign |
Het |
| Abcc10 |
A |
T |
17: 46,624,671 (GRCm39) |
C728S |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| C030048H21Rik |
A |
G |
2: 26,144,780 (GRCm39) |
S1316P |
possibly damaging |
Het |
| Cd86 |
A |
G |
16: 36,427,486 (GRCm39) |
L281S |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,414,634 (GRCm39) |
P1170S |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,280,254 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,504,091 (GRCm39) |
Q198L |
possibly damaging |
Het |
| Cyp2j12 |
A |
G |
4: 95,990,363 (GRCm39) |
V401A |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,442 (GRCm39) |
I257N |
probably damaging |
Het |
| Ddhd2 |
A |
T |
8: 26,225,038 (GRCm39) |
L593* |
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,927,445 (GRCm39) |
L1367S |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,599,567 (GRCm39) |
V728M |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,363,060 (GRCm39) |
V447M |
probably damaging |
Het |
| Fgf18 |
T |
C |
11: 33,084,332 (GRCm39) |
T41A |
probably damaging |
Het |
| Fh1 |
G |
T |
1: 175,429,108 (GRCm39) |
A469D |
probably damaging |
Het |
| Hcn1 |
A |
C |
13: 118,112,591 (GRCm39) |
S852R |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
| Krt78 |
C |
T |
15: 101,860,233 (GRCm39) |
G228S |
possibly damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,711,981 (GRCm39) |
E614G |
possibly damaging |
Het |
| Mettl9 |
T |
C |
7: 120,651,492 (GRCm39) |
I180T |
possibly damaging |
Het |
| Mgat2 |
A |
G |
12: 69,232,415 (GRCm39) |
T330A |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,872,534 (GRCm39) |
M938V |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,260,045 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
G |
A |
15: 8,364,555 (GRCm39) |
T1283I |
possibly damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,309,898 (GRCm39) |
D387G |
probably benign |
Het |
| Or1e23 |
T |
A |
11: 73,407,452 (GRCm39) |
D191V |
probably damaging |
Het |
| Or5aq1 |
A |
G |
2: 86,965,822 (GRCm39) |
V281A |
probably benign |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,254,333 (GRCm39) |
R832H |
possibly damaging |
Het |
| Ptprd |
A |
C |
4: 76,161,910 (GRCm39) |
S108R |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,480,456 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
T |
11: 53,879,671 (GRCm39) |
V463M |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,915 (GRCm39) |
H326L |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,899,715 (GRCm39) |
M188K |
possibly damaging |
Het |
|
| Other mutations in Epx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00543:Epx
|
APN |
11 |
87,760,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Epx
|
APN |
11 |
87,760,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Epx
|
APN |
11 |
87,762,144 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
K7371:Epx
|
UTSW |
11 |
87,755,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1018:Epx
|
UTSW |
11 |
87,760,129 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1607:Epx
|
UTSW |
11 |
87,759,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Epx
|
UTSW |
11 |
87,765,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Epx
|
UTSW |
11 |
87,755,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3838:Epx
|
UTSW |
11 |
87,765,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4417:Epx
|
UTSW |
11 |
87,760,256 (GRCm39) |
nonsense |
probably null |
|
|
R5083:Epx
|
UTSW |
11 |
87,763,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5712:Epx
|
UTSW |
11 |
87,765,679 (GRCm39) |
nonsense |
probably null |
|
|
R5935:Epx
|
UTSW |
11 |
87,756,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6830:Epx
|
UTSW |
11 |
87,759,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6857:Epx
|
UTSW |
11 |
87,760,781 (GRCm39) |
nonsense |
probably null |
|
|
R6984:Epx
|
UTSW |
11 |
87,759,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:Epx
|
UTSW |
11 |
87,766,349 (GRCm39) |
start gained |
probably benign |
|
|
R7652:Epx
|
UTSW |
11 |
87,766,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7667:Epx
|
UTSW |
11 |
87,765,137 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7969:Epx
|
UTSW |
11 |
87,763,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8313:Epx
|
UTSW |
11 |
87,763,557 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8559:Epx
|
UTSW |
11 |
87,755,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9030:Epx
|
UTSW |
11 |
87,763,470 (GRCm39) |
missense |
probably benign |
|
|
R9629:Epx
|
UTSW |
11 |
87,755,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Epx
|
UTSW |
11 |
87,756,301 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Epx
|
UTSW |
11 |
87,763,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Epx
|
UTSW |
11 |
87,760,720 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1177:Epx
|
UTSW |
11 |
87,760,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation