Incidental Mutation 'R4417:Epx'
| ID |
326894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epx
|
| Ensembl Gene |
ENSMUSG00000052234 |
| Gene Name |
eosinophil peroxidase |
| Synonyms |
EPO |
| MMRRC Submission |
041138-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4417 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87754826-87766362 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 87760256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 453
(R453*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049768]
|
| AlphaFold |
P49290 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049768
AA Change: R453*
|
| SMART Domains |
Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234
AA Change: R453*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
T |
A |
1: 85,654,184 (GRCm39) |
Y51F |
probably damaging |
Het |
| Abi3bp |
C |
A |
16: 56,474,398 (GRCm39) |
T631K |
probably damaging |
Het |
| BC004004 |
G |
A |
17: 29,501,249 (GRCm39) |
|
probably benign |
Het |
| Cabp1 |
G |
A |
5: 115,324,096 (GRCm39) |
S7L |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
| Col28a1 |
T |
A |
6: 8,175,666 (GRCm39) |
I61F |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,896,466 (GRCm39) |
E61G |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,949,215 (GRCm39) |
V807I |
probably damaging |
Het |
| Crhbp |
T |
C |
13: 95,580,385 (GRCm39) |
S65G |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,872,040 (GRCm39) |
Q2730L |
possibly damaging |
Het |
| Fez1 |
T |
C |
9: 36,781,768 (GRCm39) |
|
probably benign |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Glp2r |
T |
C |
11: 67,555,342 (GRCm39) |
|
probably benign |
Het |
| Gpm6a |
T |
A |
8: 55,503,223 (GRCm39) |
N157K |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,963,015 (GRCm39) |
S136P |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lcp2 |
G |
T |
11: 34,000,917 (GRCm39) |
E33D |
probably benign |
Het |
| Lrrc32 |
G |
T |
7: 98,148,144 (GRCm39) |
R308L |
probably benign |
Het |
| Matr3 |
C |
A |
18: 35,705,171 (GRCm39) |
A32D |
probably damaging |
Het |
| Mfsd12 |
A |
G |
10: 81,200,537 (GRCm39) |
|
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,038,586 (GRCm39) |
D1243G |
possibly damaging |
Het |
| Odf2 |
T |
A |
2: 29,805,333 (GRCm39) |
|
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,331 (GRCm39) |
E105G |
probably benign |
Het |
| Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
| Pitpnm2 |
G |
T |
5: 124,261,632 (GRCm39) |
R977S |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,756 (GRCm39) |
E578G |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,400,116 (GRCm39) |
I183T |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,602,908 (GRCm39) |
C968R |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,951,172 (GRCm39) |
|
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Stradb |
T |
C |
1: 59,033,531 (GRCm39) |
V398A |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,540 (GRCm39) |
N111I |
probably damaging |
Het |
| Tnip2 |
G |
A |
5: 34,660,925 (GRCm39) |
R176* |
probably null |
Het |
| Tomm7 |
A |
G |
5: 24,048,977 (GRCm39) |
I32T |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,195,036 (GRCm39) |
I1020T |
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,717 (GRCm39) |
S172A |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,854 (GRCm39) |
M247K |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,470,907 (GRCm39) |
L308P |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 126,986,781 (GRCm39) |
S154P |
probably 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 |
|
IGL01723:Epx
|
APN |
11 |
87,760,228 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTCACCTTCATGTATGATTCG -3'
(R):5'- CCAATGGGAGATTAATGCTGCC -3'
Sequencing Primer
(F):5'- CATGTATGATTCGCCAGCTG -3'
(R):5'- GGAGATTAATGCTGCCACACTTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation