Incidental Mutation 'IGL00885:Ephx4'
| ID |
27371 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ephx4
|
| Ensembl Gene |
ENSMUSG00000033805 |
| Gene Name |
epoxide hydrolase 4 |
| Synonyms |
Abhd7, LOC384214 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
IGL00885
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107551379-107577901 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 107553991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049146]
[ENSMUST00000159968]
[ENSMUST00000161246]
[ENSMUST00000161452]
|
| AlphaFold |
Q6IE26 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049146
|
| SMART Domains |
Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase_4
|
88 |
203 |
2.4e-11 |
PFAM |
|
Pfam:Abhydrolase_1
|
92 |
341 |
6.6e-27 |
PFAM |
|
Pfam:Abhydrolase_5
|
93 |
335 |
5.7e-15 |
PFAM |
|
Pfam:Abhydrolase_6
|
94 |
346 |
2.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159968
|
| SMART Domains |
Protein: ENSMUSP00000125261
Gene: ENSMUSG00000033805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_5
|
38 |
142 |
7e-12 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
142 |
1.3e-27 |
PFAM |
|
Pfam:Abhydrolase_1
|
63 |
142 |
5.7e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161246
|
| SMART Domains |
Protein: ENSMUSP00000123962
Gene: ENSMUSG00000033805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_6
|
1 |
73 |
4.8e-17 |
PFAM |
|
Pfam:Abhydrolase_1
|
25 |
73 |
7.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161452
|
| SMART Domains |
Protein: ENSMUSP00000124661
Gene: ENSMUSG00000033805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_5
|
1 |
93 |
2.1e-11 |
PFAM |
|
Pfam:Abhydrolase_6
|
1 |
94 |
5e-26 |
PFAM |
|
Pfam:Abhydrolase_1
|
25 |
94 |
5.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199508
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
T |
17: 43,025,206 (GRCm39) |
|
probably benign |
Het |
| Adora2a |
T |
G |
10: 75,169,285 (GRCm39) |
F250V |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,355,567 (GRCm39) |
S516P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,390,552 (GRCm39) |
I150V |
probably damaging |
Het |
| Capn13 |
A |
T |
17: 73,646,420 (GRCm39) |
I331N |
possibly damaging |
Het |
| Capzb |
A |
G |
4: 139,014,361 (GRCm39) |
S233G |
probably benign |
Het |
| Clasp2 |
A |
G |
9: 113,740,484 (GRCm39) |
R1171G |
probably damaging |
Het |
| Col16a1 |
T |
G |
4: 129,990,703 (GRCm39) |
I1419S |
probably damaging |
Het |
| Coro7 |
T |
A |
16: 4,452,890 (GRCm39) |
Y286F |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,725,364 (GRCm39) |
T252A |
probably benign |
Het |
| Daam1 |
T |
A |
12: 71,990,865 (GRCm39) |
C160S |
unknown |
Het |
| Fbxo47 |
A |
T |
11: 97,768,946 (GRCm39) |
D63E |
probably benign |
Het |
| Fgf3 |
A |
T |
7: 144,394,521 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
C |
T |
11: 53,039,809 (GRCm39) |
T331I |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,653,832 (GRCm39) |
F467S |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,826,478 (GRCm39) |
V106I |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,481 (GRCm39) |
T271A |
possibly damaging |
Het |
| Kat14 |
T |
A |
2: 144,236,175 (GRCm39) |
N302K |
probably benign |
Het |
| Kmt2c |
G |
T |
5: 25,614,169 (GRCm39) |
Q184K |
possibly damaging |
Het |
| Moxd2 |
A |
G |
6: 40,861,113 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
C |
A |
9: 110,467,729 (GRCm39) |
E479D |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,795,746 (GRCm39) |
L1231P |
probably damaging |
Het |
| Nfatc3 |
C |
T |
8: 106,825,809 (GRCm39) |
P620L |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,126,057 (GRCm39) |
F253L |
probably damaging |
Het |
| Nutm2 |
T |
A |
13: 50,628,896 (GRCm39) |
S653R |
probably benign |
Het |
| Or2n1e |
A |
C |
17: 38,585,790 (GRCm39) |
I43L |
probably benign |
Het |
| Or9i16 |
A |
T |
19: 13,865,532 (GRCm39) |
M14K |
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,600,003 (GRCm39) |
D921G |
probably benign |
Het |
| Plpp4 |
A |
T |
7: 128,923,257 (GRCm39) |
I101F |
probably damaging |
Het |
| Psg17 |
A |
T |
7: 18,554,091 (GRCm39) |
L53Q |
probably damaging |
Het |
| Ptpn4 |
A |
T |
1: 119,730,093 (GRCm39) |
I20N |
possibly damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,164,175 (GRCm39) |
I1030L |
probably damaging |
Het |
| Rpl7 |
A |
C |
1: 16,172,807 (GRCm39) |
S171A |
possibly damaging |
Het |
| Snx25 |
G |
A |
8: 46,491,513 (GRCm39) |
T859M |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,815,926 (GRCm39) |
E702G |
unknown |
Het |
| Tmem94 |
A |
G |
11: 115,686,154 (GRCm39) |
M990V |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,774,502 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,540,029 (GRCm39) |
H34319R |
possibly damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,404,424 (GRCm39) |
V8A |
probably benign |
Het |
| Zbtb41 |
A |
G |
1: 139,358,062 (GRCm39) |
T457A |
probably benign |
Het |
|
| Other mutations in Ephx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Ephx4
|
APN |
5 |
107,577,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01916:Ephx4
|
APN |
5 |
107,553,896 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03301:Ephx4
|
APN |
5 |
107,574,730 (GRCm39) |
missense |
probably benign |
|
|
G5030:Ephx4
|
UTSW |
5 |
107,577,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0055:Ephx4
|
UTSW |
5 |
107,560,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Ephx4
|
UTSW |
5 |
107,560,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0408:Ephx4
|
UTSW |
5 |
107,561,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Ephx4
|
UTSW |
5 |
107,551,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0471:Ephx4
|
UTSW |
5 |
107,561,379 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1570:Ephx4
|
UTSW |
5 |
107,567,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3700:Ephx4
|
UTSW |
5 |
107,550,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4366:Ephx4
|
UTSW |
5 |
107,551,679 (GRCm39) |
unclassified |
probably benign |
|
|
R5895:Ephx4
|
UTSW |
5 |
107,577,518 (GRCm39) |
splice site |
probably null |
|
|
R5933:Ephx4
|
UTSW |
5 |
107,551,631 (GRCm39) |
splice site |
probably null |
|
|
R6326:Ephx4
|
UTSW |
5 |
107,553,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6505:Ephx4
|
UTSW |
5 |
107,551,522 (GRCm39) |
nonsense |
probably null |
|
|
R6606:Ephx4
|
UTSW |
5 |
107,560,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Ephx4
|
UTSW |
5 |
107,574,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Ephx4
|
UTSW |
5 |
107,561,427 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7017:Ephx4
|
UTSW |
5 |
107,553,980 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7484:Ephx4
|
UTSW |
5 |
107,577,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7999:Ephx4
|
UTSW |
5 |
107,567,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Ephx4
|
UTSW |
5 |
107,561,384 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9030:Ephx4
|
UTSW |
5 |
107,577,549 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9712:Ephx4
|
UTSW |
5 |
107,567,647 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0019:Ephx4
|
UTSW |
5 |
107,567,726 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2013-04-17 |
Incidental Mutation