Incidental Mutation 'IGL01143:Ephx2'
| ID |
52731 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ephx2
|
| Ensembl Gene |
ENSMUSG00000022040 |
| Gene Name |
epoxide hydrolase 2, cytoplasmic |
| Synonyms |
Eph2, sEH, sEP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
IGL01143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
66321823-66361949 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66326971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 408
(R408Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070515]
[ENSMUST00000224698]
[ENSMUST00000225309]
|
| AlphaFold |
P34914 |
| PDB Structure |
CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE. [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE COMPLEXED WITH CPU INHIBITOR [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE COMPLEXED WITH CIU INHIBITOR [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE SOLUBLE EPOXIDE HYDROLASE COMPLEXED WITH CDU INHIBITOR [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070515
AA Change: R408Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000069209
Gene: ENSMUSG00000022040
AA Change: R408Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase
|
3 |
197 |
1.2e-8 |
PFAM |
|
Pfam:HAD_2
|
6 |
203 |
2.5e-17 |
PFAM |
|
Pfam:Hydrolase_4
|
256 |
529 |
6.6e-11 |
PFAM |
|
Pfam:Abhydrolase_1
|
257 |
530 |
7.2e-38 |
PFAM |
|
Pfam:Abhydrolase_5
|
258 |
524 |
3.5e-14 |
PFAM |
|
Pfam:Abhydrolase_6
|
259 |
536 |
2.7e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224698
AA Change: R390Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225309
AA Change: R342Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| 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 epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
PHENOTYPE: Males homozygous for a targeted null mutation display a significant reduction in blood pressure both in the absence and presence of dietary salt loading. Both sexes exhibit altered arachidonic acid metabolism and reduced renal formation of epoxyeicosatrienoic and dihydroxyeicosatrienoic acids. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
T |
10: 85,490,335 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
A |
G |
3: 151,205,866 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
C |
13: 81,567,470 (GRCm39) |
D5234E |
probably benign |
Het |
| Bmp7 |
G |
T |
2: 172,721,275 (GRCm39) |
H267N |
probably benign |
Het |
| Ccdc113 |
T |
C |
8: 96,260,888 (GRCm39) |
V30A |
probably damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,575,417 (GRCm39) |
L424Q |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,937,445 (GRCm39) |
D58E |
probably damaging |
Het |
| Ces1f |
C |
T |
8: 93,998,458 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
T |
A |
17: 56,370,336 (GRCm39) |
D600E |
possibly damaging |
Het |
| Cndp2 |
A |
G |
18: 84,695,442 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,976,475 (GRCm39) |
D2727V |
probably damaging |
Het |
| Dync1li2 |
T |
C |
8: 105,156,085 (GRCm39) |
D252G |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,488,569 (GRCm39) |
T3427K |
possibly damaging |
Het |
| Gal3st4 |
A |
G |
5: 138,269,664 (GRCm39) |
M1T |
probably null |
Het |
| Gm5828 |
T |
C |
1: 16,840,172 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7694 |
C |
T |
1: 170,130,394 (GRCm39) |
M1I |
probably null |
Het |
| Gpatch1 |
A |
G |
7: 35,000,997 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
G |
T |
16: 87,754,488 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
G |
5: 134,225,394 (GRCm39) |
T161A |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,706,533 (GRCm39) |
I790V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,274,870 (GRCm39) |
V609I |
probably benign |
Het |
| Kcnq4 |
T |
G |
4: 120,555,820 (GRCm39) |
D585A |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,684 (GRCm39) |
Y464C |
probably damaging |
Het |
| Lpar6 |
G |
A |
14: 73,476,077 (GRCm39) |
D13N |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,176,761 (GRCm39) |
Y132H |
probably damaging |
Het |
| Nphp1 |
C |
T |
2: 127,622,056 (GRCm39) |
V24I |
probably benign |
Het |
| Or5b104 |
A |
T |
19: 13,072,476 (GRCm39) |
F179I |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,584,278 (GRCm39) |
N20D |
probably benign |
Het |
| Or8b1c |
G |
T |
9: 38,384,338 (GRCm39) |
M98I |
possibly damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,575,690 (GRCm39) |
W23R |
probably benign |
Het |
| Plekhg3 |
T |
C |
12: 76,611,756 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,808,752 (GRCm39) |
K396R |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,159 (GRCm39) |
D736G |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,846,614 (GRCm39) |
D46G |
probably benign |
Het |
| Spata31 |
T |
G |
13: 65,068,630 (GRCm39) |
Y259* |
probably null |
Het |
| Synj1 |
T |
C |
16: 90,748,864 (GRCm39) |
E1064G |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,785,085 (GRCm39) |
T81A |
probably benign |
Het |
| Ttc23l |
A |
G |
15: 10,530,775 (GRCm39) |
I279T |
probably damaging |
Het |
| Ttc39a |
T |
C |
4: 109,300,010 (GRCm39) |
|
probably null |
Het |
| Vmn2r108 |
C |
A |
17: 20,682,727 (GRCm39) |
A826S |
possibly damaging |
Het |
| Zyg11b |
A |
T |
4: 108,102,191 (GRCm39) |
V510E |
possibly damaging |
Het |
|
| Other mutations in Ephx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Ephx2
|
APN |
14 |
66,330,286 (GRCm39) |
missense |
probably benign |
|
|
IGL02058:Ephx2
|
APN |
14 |
66,341,173 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02164:Ephx2
|
APN |
14 |
66,341,169 (GRCm39) |
splice site |
probably benign |
|
|
IGL02606:Ephx2
|
APN |
14 |
66,323,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4618001:Ephx2
|
UTSW |
14 |
66,339,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0396:Ephx2
|
UTSW |
14 |
66,345,512 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0732:Ephx2
|
UTSW |
14 |
66,324,412 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0762:Ephx2
|
UTSW |
14 |
66,339,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1444:Ephx2
|
UTSW |
14 |
66,344,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Ephx2
|
UTSW |
14 |
66,324,475 (GRCm39) |
nonsense |
probably null |
|
|
R1735:Ephx2
|
UTSW |
14 |
66,325,752 (GRCm39) |
missense |
probably benign |
|
|
R1871:Ephx2
|
UTSW |
14 |
66,322,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Ephx2
|
UTSW |
14 |
66,322,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Ephx2
|
UTSW |
14 |
66,345,511 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5800:Ephx2
|
UTSW |
14 |
66,344,751 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6013:Ephx2
|
UTSW |
14 |
66,347,691 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6076:Ephx2
|
UTSW |
14 |
66,330,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Ephx2
|
UTSW |
14 |
66,349,669 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6193:Ephx2
|
UTSW |
14 |
66,326,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7324:Ephx2
|
UTSW |
14 |
66,322,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7390:Ephx2
|
UTSW |
14 |
66,347,904 (GRCm39) |
|
|
|
|
R7504:Ephx2
|
UTSW |
14 |
66,339,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7759:Ephx2
|
UTSW |
14 |
66,326,968 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7814:Ephx2
|
UTSW |
14 |
66,347,678 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7863:Ephx2
|
UTSW |
14 |
66,344,692 (GRCm39) |
nonsense |
probably null |
|
|
R8003:Ephx2
|
UTSW |
14 |
66,361,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8157:Ephx2
|
UTSW |
14 |
66,345,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8169:Ephx2
|
UTSW |
14 |
66,349,602 (GRCm39) |
splice site |
probably null |
|
|
R8804:Ephx2
|
UTSW |
14 |
66,324,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8817:Ephx2
|
UTSW |
14 |
66,344,725 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8931:Ephx2
|
UTSW |
14 |
66,322,441 (GRCm39) |
splice site |
probably benign |
|
|
R9072:Ephx2
|
UTSW |
14 |
66,323,688 (GRCm39) |
nonsense |
probably null |
|
|
R9073:Ephx2
|
UTSW |
14 |
66,323,688 (GRCm39) |
nonsense |
probably null |
|
|
R9647:Ephx2
|
UTSW |
14 |
66,326,957 (GRCm39) |
missense |
probably benign |
|
|
RF023:Ephx2
|
UTSW |
14 |
66,322,378 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Ephx2
|
UTSW |
14 |
66,344,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Ephx2
|
UTSW |
14 |
66,322,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation