Incidental Mutation 'IGL03301:Ephx4'
| ID |
416232 |
| 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: 0.263)
|
| Stock # |
IGL03301
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107551379-107577901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 107574730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 256
(T256K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049146]
[ENSMUST00000166599]
|
| AlphaFold |
Q6IE26 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049146
AA Change: T256K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
AA Change: T256K
| 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 |
probably benign
Transcript: ENSMUST00000166599
|
| SMART Domains |
Protein: ENSMUSP00000127318
Gene: ENSMUSG00000033794
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
122 |
N/A |
INTRINSIC |
|
PlsC
|
136 |
247 |
5.65e-14 |
SMART |
|
Blast:PlsC
|
280 |
322 |
3e-10 |
BLAST |
|
EFh
|
391 |
419 |
9.48e-3 |
SMART |
|
EFh
|
428 |
456 |
6.6e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171723
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,855,263 (GRCm39) |
E418G |
probably damaging |
Het |
| Arl14 |
T |
C |
3: 69,130,276 (GRCm39) |
F141S |
probably damaging |
Het |
| C1s1 |
A |
T |
6: 124,518,283 (GRCm39) |
|
probably benign |
Het |
| Cilp |
T |
C |
9: 65,187,499 (GRCm39) |
V1198A |
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 19,055,039 (GRCm39) |
I129K |
probably benign |
Het |
| Ctdp1 |
G |
A |
18: 80,492,849 (GRCm39) |
Q549* |
probably null |
Het |
| Cyp2ab1 |
T |
A |
16: 20,132,549 (GRCm39) |
I250F |
possibly damaging |
Het |
| Dmd |
G |
A |
X: 82,952,120 (GRCm39) |
R1765Q |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,014,649 (GRCm39) |
G1739R |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,714,083 (GRCm39) |
K1350E |
probably benign |
Het |
| Fnd3c2 |
G |
T |
X: 105,295,869 (GRCm39) |
Q49K |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,086 (GRCm39) |
G1889W |
probably damaging |
Het |
| Igkv19-93 |
A |
T |
6: 68,713,465 (GRCm39) |
W55R |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,032,370 (GRCm39) |
Y412C |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,155,382 (GRCm39) |
N261I |
probably damaging |
Het |
| Mrgpra1 |
T |
C |
7: 46,985,164 (GRCm39) |
N172D |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,824,503 (GRCm39) |
N293S |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,160,775 (GRCm39) |
S2294P |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,574,052 (GRCm39) |
V262D |
probably damaging |
Het |
| Rhox7a |
A |
G |
X: 36,928,888 (GRCm39) |
T235A |
probably benign |
Het |
| Saal1 |
A |
G |
7: 46,351,944 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Slc22a2 |
A |
G |
17: 12,824,926 (GRCm39) |
R263G |
probably damaging |
Het |
| Speer3 |
T |
A |
5: 13,845,447 (GRCm39) |
L160H |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,557 (GRCm39) |
M377V |
possibly damaging |
Het |
| Tsen2 |
T |
G |
6: 115,545,732 (GRCm39) |
Y341D |
probably damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,305,955 (GRCm39) |
V541D |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,445,221 (GRCm39) |
|
probably null |
Het |
| Zfp711 |
T |
C |
X: 111,543,098 (GRCm39) |
Y710H |
probably damaging |
Het |
| Zmiz2 |
C |
T |
11: 6,351,170 (GRCm39) |
T566M |
probably damaging |
Het |
|
| Other mutations in Ephx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Ephx4
|
APN |
5 |
107,553,991 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation