Incidental Mutation 'G5030:Ephx4'
| ID |
500 |
| Institutional Source |
Beutler Lab
|
| 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 # |
G5030 (G3)
of strain
560
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
107551379-107577901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107577693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 339
(D339V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049146]
[ENSMUST00000166599]
|
| AlphaFold |
Q6IE26 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049146
AA Change: D339V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043764
Gene: ENSMUSG00000033805
AA Change: D339V
| 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
|
| Meta Mutation Damage Score |
0.5408 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
35.6% |
| Validation Efficiency |
87% (206/237) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,961,165 (GRCm39) |
I585F |
probably damaging |
Het |
| Adam18 |
C |
G |
8: 25,141,872 (GRCm39) |
L232F |
probably benign |
Homo |
| Atp13a4 |
A |
G |
16: 29,274,306 (GRCm39) |
I385T |
probably damaging |
Homo |
| Ccdc17 |
T |
A |
4: 116,455,699 (GRCm39) |
S277T |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,629 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
T |
C |
8: 94,000,847 (GRCm39) |
D99G |
probably benign |
Het |
| Clec16a |
G |
A |
16: 10,389,425 (GRCm39) |
R187Q |
probably damaging |
Homo |
| Cryl1 |
C |
T |
14: 57,579,595 (GRCm39) |
|
probably benign |
Het |
| Cryzl2 |
C |
T |
1: 157,292,580 (GRCm39) |
Q48* |
probably null |
Het |
| Dtx4 |
A |
G |
19: 12,446,943 (GRCm39) |
L583P |
probably benign |
Het |
| Eri2 |
A |
T |
7: 119,385,601 (GRCm39) |
V300E |
possibly damaging |
Het |
| F3 |
T |
A |
3: 121,518,648 (GRCm39) |
N37K |
probably damaging |
Homo |
| Fpr1 |
A |
T |
17: 18,097,068 (GRCm39) |
L307H |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,618 (GRCm39) |
N61K |
possibly damaging |
Het |
| Gm5548 |
T |
C |
3: 112,961,512 (GRCm39) |
|
noncoding transcript |
Homo |
| Il1r1 |
A |
G |
1: 40,352,323 (GRCm39) |
K498E |
possibly damaging |
Homo |
| Myh11 |
T |
C |
16: 14,068,443 (GRCm39) |
I192M |
probably damaging |
Homo |
| Nckap5 |
T |
C |
1: 125,953,591 (GRCm39) |
K923R |
probably damaging |
Het |
| Nmbr |
A |
T |
10: 14,642,747 (GRCm39) |
Y102F |
possibly damaging |
Het |
| Or6c75 |
A |
G |
10: 129,337,406 (GRCm39) |
T218A |
probably benign |
Homo |
| Pde1a |
C |
T |
2: 79,718,180 (GRCm39) |
|
probably benign |
Het |
| Pex6 |
T |
C |
17: 47,026,382 (GRCm39) |
|
probably benign |
Het |
| Rtn2 |
T |
C |
7: 19,027,099 (GRCm39) |
S305P |
probably damaging |
Homo |
| Saal1 |
G |
A |
7: 46,342,207 (GRCm39) |
T412I |
probably damaging |
Homo |
| Slc46a2 |
A |
T |
4: 59,913,867 (GRCm39) |
I352N |
probably damaging |
Het |
| Trim37 |
A |
T |
11: 87,033,967 (GRCm39) |
H99L |
probably damaging |
Het |
| Tubgcp4 |
C |
T |
2: 121,014,815 (GRCm39) |
R242C |
probably damaging |
Het |
| Twf2 |
C |
A |
9: 106,084,141 (GRCm39) |
L27I |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,941 (GRCm39) |
H307Q |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,678,091 (GRCm39) |
V3047G |
possibly 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 |
|
|
IGL03301:Ephx4
|
APN |
5 |
107,574,730 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified an A to T transversion at position 1054 of the Ephx4 transcript in exon 7 of 7 total exons. Multiple transcripts of the Ephx4 gene are displayed on Ensembl and Vega. The mutated nucleotide causes an aspartic acid to valine substitution at amino acid 339 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Ephx4 gene encodes a 359 amino acid single-pass type II membrane protein that belongs to the AB hydrolase superfamily. Residues important for catalytic activity are Asp 167, Tyr 279 and His 334 (Uniprot Q6IE26).
The D339V change is predicted to be possibly damaging by the PolyPhen program (see report). |
| Posted On |
2010-10-26 |
Incidental Mutation