Incidental Mutation 'IGL01464:Ephx3'
| ID |
88067 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ephx3
|
| Ensembl Gene |
ENSMUSG00000037577 |
| Gene Name |
epoxide hydrolase 3 |
| Synonyms |
2310063B19Rik, Abhd9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL01464
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32402742-32408444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32407219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 240
(S240P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087721]
[ENSMUST00000162117]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087721
AA Change: S247P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085013
Gene: ENSMUSG00000037577
AA Change: S247P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
83 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
117 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_1
|
162 |
276 |
1.4e-16 |
PFAM |
|
Pfam:Abhydrolase_5
|
163 |
402 |
9.1e-12 |
PFAM |
|
Pfam:Abhydrolase_6
|
164 |
413 |
7.6e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162117
AA Change: S240P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124600
Gene: ENSMUSG00000037577
AA Change: S240P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
83 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
117 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
156 |
395 |
6e-12 |
PFAM |
|
Pfam:Abhydrolase_6
|
157 |
406 |
4.2e-36 |
PFAM |
|
Pfam:Abhydrolase_1
|
181 |
410 |
7.6e-13 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with no gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
C |
A |
1: 165,374,156 (GRCm39) |
H748Q |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,819,822 (GRCm39) |
V329A |
possibly damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,272 (GRCm39) |
T636A |
probably benign |
Het |
| Apoh |
A |
T |
11: 108,286,716 (GRCm39) |
I47F |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,167,010 (GRCm39) |
S14P |
probably damaging |
Het |
| Calb1 |
T |
A |
4: 15,881,485 (GRCm39) |
|
probably benign |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,399 (GRCm39) |
S102P |
possibly damaging |
Het |
| Cd86 |
T |
C |
16: 36,441,315 (GRCm39) |
S51G |
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,948,134 (GRCm39) |
G181D |
probably damaging |
Het |
| Elmod2 |
G |
A |
8: 84,043,421 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,764,827 (GRCm39) |
I435M |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,363,688 (GRCm39) |
D770G |
possibly damaging |
Het |
| Kmt2c |
G |
A |
5: 25,557,242 (GRCm39) |
T1155I |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,302,783 (GRCm39) |
D2982G |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,569,251 (GRCm39) |
V1157I |
unknown |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,796,580 (GRCm39) |
N976K |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,081,257 (GRCm39) |
F1153S |
probably damaging |
Het |
| Pnrc1 |
T |
C |
4: 33,246,395 (GRCm39) |
Y188C |
probably benign |
Het |
| Polr3a |
A |
C |
14: 24,520,749 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,787 (GRCm39) |
T512A |
possibly damaging |
Het |
| Rhbdf2 |
C |
T |
11: 116,491,734 (GRCm39) |
G574S |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 107,929,501 (GRCm39) |
D1217G |
probably damaging |
Het |
| Slc19a2 |
T |
C |
1: 164,088,430 (GRCm39) |
S92P |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 178,043,425 (GRCm39) |
I139N |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,327,864 (GRCm39) |
N486S |
probably null |
Het |
| Xpo1 |
T |
A |
11: 23,217,703 (GRCm39) |
H56Q |
probably damaging |
Het |
| Zbtb44 |
T |
A |
9: 30,965,580 (GRCm39) |
L330H |
probably damaging |
Het |
|
| Other mutations in Ephx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1142:Ephx3
|
UTSW |
17 |
32,404,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2175:Ephx3
|
UTSW |
17 |
32,407,433 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5365:Ephx3
|
UTSW |
17 |
32,408,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6971:Ephx3
|
UTSW |
17 |
32,407,177 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7114:Ephx3
|
UTSW |
17 |
32,404,006 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7236:Ephx3
|
UTSW |
17 |
32,404,328 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7532:Ephx3
|
UTSW |
17 |
32,407,763 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8474:Ephx3
|
UTSW |
17 |
32,407,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Ephx3
|
UTSW |
17 |
32,408,290 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9311:Ephx3
|
UTSW |
17 |
32,408,290 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9313:Ephx3
|
UTSW |
17 |
32,408,290 (GRCm39) |
missense |
probably benign |
0.24 |
|
X0062:Ephx3
|
UTSW |
17 |
32,408,361 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Ephx3
|
UTSW |
17 |
32,404,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation