Incidental Mutation 'IGL00820:Ephx1'
| ID |
10505 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ephx1
|
| Ensembl Gene |
ENSMUSG00000038776 |
| Gene Name |
epoxide hydrolase 1, microsomal |
| Synonyms |
Eph1, Eph-1, mEH |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL00820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180817121-180845134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180827386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 89
(Y89C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036928]
[ENSMUST00000111068]
[ENSMUST00000147585]
|
| AlphaFold |
Q9D379 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036928
AA Change: Y89C
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: Y89C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EHN
|
50 |
160 |
2.1e-36 |
PFAM |
|
Pfam:Abhydrolase_1
|
142 |
404 |
2.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111068
AA Change: Y89C
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: Y89C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EHN
|
49 |
161 |
4.2e-38 |
PFAM |
|
Pfam:Abhydrolase_6
|
144 |
430 |
3.7e-10 |
PFAM |
|
Pfam:Abhydrolase_1
|
178 |
254 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147585
AA Change: Y89C
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122671
Gene: ENSMUSG00000038776
AA Change: Y89C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EHN
|
49 |
130 |
2.6e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154133
|
| SMART Domains |
Protein: ENSMUSP00000114363
Gene: ENSMUSG00000038776
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EHN
|
1 |
37 |
1.2e-8 |
PFAM |
|
Pfam:Abhydrolase_1
|
19 |
247 |
2.3e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are highly resistant to DMBA-induced skin carcinogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,083,878 (GRCm39) |
I631F |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,467,664 (GRCm39) |
D314G |
probably benign |
Het |
| Ccl1 |
T |
C |
11: 82,068,914 (GRCm39) |
E41G |
possibly damaging |
Het |
| Fbxw18 |
G |
A |
9: 109,522,437 (GRCm39) |
T144I |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,758,570 (GRCm39) |
A357V |
probably benign |
Het |
| Gfra1 |
T |
C |
19: 58,252,337 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,294 (GRCm39) |
I2458L |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,237,703 (GRCm39) |
V339A |
possibly damaging |
Het |
| Klk1b8 |
T |
C |
7: 43,604,210 (GRCm39) |
I226T |
probably benign |
Het |
| Mfsd6 |
C |
T |
1: 52,747,465 (GRCm39) |
V467M |
probably damaging |
Het |
| Mrpl16 |
T |
C |
19: 11,751,777 (GRCm39) |
V179A |
probably benign |
Het |
| Or52e19b |
G |
A |
7: 103,032,672 (GRCm39) |
T179I |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,582,358 (GRCm39) |
T693A |
possibly damaging |
Het |
| Ptpn2 |
A |
C |
18: 67,808,862 (GRCm39) |
I318R |
possibly damaging |
Het |
| Slc34a1 |
A |
G |
13: 24,003,317 (GRCm39) |
H285R |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spmip6 |
A |
T |
4: 41,507,178 (GRCm39) |
L206Q |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,679,251 (GRCm39) |
L68P |
probably damaging |
Het |
| Stxbp6 |
G |
A |
12: 44,908,129 (GRCm39) |
T163I |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,069,034 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,850,888 (GRCm39) |
E117G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,437,378 (GRCm39) |
|
probably benign |
Het |
| Wipi1 |
A |
C |
11: 109,473,945 (GRCm39) |
|
probably benign |
Het |
| Zan |
A |
T |
5: 137,384,626 (GRCm39) |
C5133S |
unknown |
Het |
|
| Other mutations in Ephx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Ephx1
|
APN |
1 |
180,818,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00972:Ephx1
|
APN |
1 |
180,827,365 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01577:Ephx1
|
APN |
1 |
180,829,545 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
IGL02718:Ephx1
|
APN |
1 |
180,827,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03330:Ephx1
|
APN |
1 |
180,827,371 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1190:Ephx1
|
UTSW |
1 |
180,821,494 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1751:Ephx1
|
UTSW |
1 |
180,822,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Ephx1
|
UTSW |
1 |
180,822,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Ephx1
|
UTSW |
1 |
180,823,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Ephx1
|
UTSW |
1 |
180,817,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Ephx1
|
UTSW |
1 |
180,817,498 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3696:Ephx1
|
UTSW |
1 |
180,817,516 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4674:Ephx1
|
UTSW |
1 |
180,822,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Ephx1
|
UTSW |
1 |
180,822,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4769:Ephx1
|
UTSW |
1 |
180,823,543 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4883:Ephx1
|
UTSW |
1 |
180,829,488 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6827:Ephx1
|
UTSW |
1 |
180,817,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Ephx1
|
UTSW |
1 |
180,827,287 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7147:Ephx1
|
UTSW |
1 |
180,829,384 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7847:Ephx1
|
UTSW |
1 |
180,829,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9598:Ephx1
|
UTSW |
1 |
180,827,381 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Ephx1
|
UTSW |
1 |
180,827,334 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2012-12-06 |
Incidental Mutation