Incidental Mutation 'R3696:Ephx1'
| ID |
269801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephx1
|
| Ensembl Gene |
ENSMUSG00000038776 |
| Gene Name |
epoxide hydrolase 1, microsomal |
| Synonyms |
Eph1, Eph-1, mEH |
| MMRRC Submission |
040690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R3696 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
180817121-180845134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 180817516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 385
(S385L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036928]
[ENSMUST00000111068]
|
| AlphaFold |
Q9D379 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036928
AA Change: S399L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000047551
Gene: ENSMUSG00000038776
AA Change: S399L
| 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: S385L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106697
Gene: ENSMUSG00000038776
AA Change: S385L
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,019,351 (GRCm39) |
S562G |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,695,220 (GRCm39) |
L531* |
probably null |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,033,552 (GRCm39) |
M1010V |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,527,724 (GRCm39) |
E126G |
probably damaging |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dlat |
C |
T |
9: 50,562,176 (GRCm39) |
V283I |
possibly damaging |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,806,473 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,329,911 (GRCm39) |
S4882P |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Itgb8 |
A |
G |
12: 119,140,746 (GRCm39) |
V377A |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,572,532 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,350,155 (GRCm39) |
T2027P |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,870 (GRCm39) |
I678L |
possibly damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Prm3 |
T |
C |
16: 10,608,672 (GRCm39) |
M28V |
possibly damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
A |
T |
11: 87,476,060 (GRCm39) |
T212S |
possibly damaging |
Het |
| Trdn |
T |
A |
10: 33,181,028 (GRCm39) |
|
probably null |
Het |
| Trim2 |
T |
A |
3: 84,098,158 (GRCm39) |
Y390F |
probably benign |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,523 (GRCm39) |
I232F |
possibly damaging |
Het |
| Zfp30 |
A |
T |
7: 29,492,815 (GRCm39) |
K356N |
probably damaging |
Het |
|
| Other mutations in Ephx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Ephx1
|
APN |
1 |
180,827,386 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGTGTAGCGTCATCACTG -3'
(R):5'- CCATTTCCTGCTTGGGTGAC -3'
Sequencing Primer
(F):5'- GTAGCGTCATCACTGCAGCTC -3'
(R):5'- CTGGCAGACAAGGTCCCTAATG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation