Incidental Mutation 'R1190:Ephx1'
ID |
100717 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ephx1
|
Ensembl Gene |
ENSMUSG00000038776 |
Gene Name |
epoxide hydrolase 1, microsomal |
Synonyms |
Eph1, Eph-1, mEH |
MMRRC Submission |
039262-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.160)
|
Stock # |
R1190 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
180817121-180845134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 180821494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 280
(M280K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106697
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036928]
[ENSMUST00000111068]
[ENSMUST00000147585]
|
AlphaFold |
Q9D379 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036928
AA Change: M294K
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000047551 Gene: ENSMUSG00000038776 AA Change: M294K
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: M280K
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000106697 Gene: ENSMUSG00000038776 AA Change: M280K
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: ENSMUST00000147585
|
SMART Domains |
Protein: ENSMUSP00000122671 Gene: ENSMUSG00000038776
Domain | Start | End | E-Value | Type |
Pfam:EHN
|
49 |
130 |
2.6e-26 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154133
AA Change: M170K
|
SMART Domains |
Protein: ENSMUSP00000114363 Gene: ENSMUSG00000038776 AA Change: M170K
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 |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.8%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Antxrl |
T |
C |
14: 33,791,207 (GRCm39) |
F367L |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,933,001 (GRCm39) |
R3586W |
probably damaging |
Het |
Dpysl2 |
A |
G |
14: 67,061,850 (GRCm39) |
V252A |
probably benign |
Het |
Dus2 |
T |
C |
8: 106,771,497 (GRCm39) |
S208P |
possibly damaging |
Het |
Elk3 |
T |
C |
10: 93,101,058 (GRCm39) |
N231S |
probably benign |
Het |
Fstl4 |
T |
C |
11: 52,959,373 (GRCm39) |
M138T |
probably benign |
Het |
Iqsec1 |
A |
T |
6: 90,666,659 (GRCm39) |
Y593N |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lep |
G |
T |
6: 29,071,173 (GRCm39) |
E166* |
probably null |
Het |
Limch1 |
A |
G |
5: 67,126,540 (GRCm39) |
D56G |
probably damaging |
Het |
Or4d10c |
G |
T |
19: 12,066,051 (GRCm39) |
T35K |
possibly damaging |
Het |
Pkn2 |
A |
T |
3: 142,517,286 (GRCm39) |
|
probably null |
Het |
Plxna4 |
A |
G |
6: 32,228,071 (GRCm39) |
Y512H |
probably damaging |
Het |
Tekt1 |
A |
T |
11: 72,246,039 (GRCm39) |
I161N |
probably damaging |
Het |
Tex14 |
T |
G |
11: 87,385,934 (GRCm39) |
|
probably null |
Het |
Trpc3 |
T |
C |
3: 36,725,497 (GRCm39) |
N160D |
probably benign |
Het |
Zfp369 |
T |
C |
13: 65,440,107 (GRCm39) |
S264P |
probably damaging |
Het |
Zfp747 |
G |
A |
7: 126,973,726 (GRCm39) |
A148V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTGTGATGCCTTGGTTCAGTTC -3'
(R):5'- ACAGGTTCAACCCAGTGGATGC -3'
Sequencing Primer
(F):5'- GGTTCAGTTCTCAGTAGAGAAAAC -3'
(R):5'- tcctctcctctcctctccc -3'
|
Posted On |
2014-01-15 |