Incidental Mutation 'IGL01804:Edc4'
| ID |
155625 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Edc4
|
| Ensembl Gene |
ENSMUSG00000036270 |
| Gene Name |
enhancer of mRNA decapping 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01804
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106607506-106619857 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106617289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1052
(I1052N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040254]
[ENSMUST00000060167]
[ENSMUST00000118920]
[ENSMUST00000119261]
[ENSMUST00000136048]
[ENSMUST00000145618]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040254
AA Change: I1052N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: I1052N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
33 |
93 |
1e-7 |
BLAST |
|
low complexity region
|
103 |
110 |
N/A |
INTRINSIC |
|
WD40
|
165 |
205 |
1.99e0 |
SMART |
|
low complexity region
|
243 |
253 |
N/A |
INTRINSIC |
|
WD40
|
286 |
325 |
1.38e-2 |
SMART |
|
WD40
|
333 |
384 |
2.3e0 |
SMART |
|
low complexity region
|
609 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
794 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
902 |
N/A |
INTRINSIC |
|
coiled coil region
|
1001 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1267 |
1285 |
N/A |
INTRINSIC |
|
PDB:2VXG|B
|
1286 |
1402 |
3e-18 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060167
|
| SMART Domains |
Protein: ENSMUSP00000056940
Gene: ENSMUSG00000044287
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:NRN1
|
39 |
118 |
2.1e-28 |
PFAM |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118920
|
| SMART Domains |
Protein: ENSMUSP00000113445
Gene: ENSMUSG00000044287
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Pfam:NRN1
|
38 |
120 |
3.4e-27 |
PFAM |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119261
AA Change: I1036N
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: I1036N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
33 |
93 |
1e-7 |
BLAST |
|
low complexity region
|
103 |
110 |
N/A |
INTRINSIC |
|
WD40
|
165 |
205 |
1.99e0 |
SMART |
|
low complexity region
|
243 |
253 |
N/A |
INTRINSIC |
|
WD40
|
286 |
325 |
1.38e-2 |
SMART |
|
WD40
|
333 |
384 |
2.3e0 |
SMART |
|
low complexity region
|
609 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
794 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
886 |
N/A |
INTRINSIC |
|
coiled coil region
|
985 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1251 |
1269 |
N/A |
INTRINSIC |
|
PDB:2VXG|B
|
1270 |
1386 |
3e-18 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132680
|
| SMART Domains |
Protein: ENSMUSP00000114209
Gene: ENSMUSG00000036270
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
189 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136048
AA Change: I1000N
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: I1000N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
33 |
93 |
9e-8 |
BLAST |
|
low complexity region
|
103 |
110 |
N/A |
INTRINSIC |
|
WD40
|
165 |
205 |
1.99e0 |
SMART |
|
low complexity region
|
243 |
253 |
N/A |
INTRINSIC |
|
WD40
|
286 |
325 |
1.38e-2 |
SMART |
|
low complexity region
|
549 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
725 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
840 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1215 |
1233 |
N/A |
INTRINSIC |
|
PDB:2VXG|B
|
1234 |
1317 |
1e-14 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145618
|
| SMART Domains |
Protein: ENSMUSP00000118162
Gene: ENSMUSG00000036270
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
185 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is thought to promote mRNA decay, and is known to interact with several mRNA decapping proteins. In humans, decreased expression of this gene prevents the accumulation of mRNA decapping proteins to mRNA processing bodies (P-body). Alternative splicing results in multiple protein isoforms. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,315,342 (GRCm39) |
N1860D |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,336,637 (GRCm39) |
C2248S |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,949,080 (GRCm39) |
Q194* |
probably null |
Het |
| Cetn3 |
A |
T |
13: 81,932,779 (GRCm39) |
K13* |
probably null |
Het |
| Cldn18 |
T |
A |
9: 99,580,901 (GRCm39) |
K116* |
probably null |
Het |
| Cntn5 |
T |
A |
9: 9,831,542 (GRCm39) |
I613F |
probably damaging |
Het |
| Cyp46a1 |
A |
G |
12: 108,321,745 (GRCm39) |
I324V |
probably benign |
Het |
| Ddb1 |
A |
C |
19: 10,590,382 (GRCm39) |
E303A |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,962,361 (GRCm39) |
V539A |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,212,433 (GRCm39) |
Y1236F |
probably benign |
Het |
| Dpf1 |
T |
A |
7: 29,015,926 (GRCm39) |
C383S |
probably damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,681,966 (GRCm39) |
L1243P |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,885,148 (GRCm39) |
S264P |
probably damaging |
Het |
| Gbx2 |
T |
C |
1: 89,856,703 (GRCm39) |
E229G |
probably benign |
Het |
| Hip1r |
T |
A |
5: 124,139,613 (GRCm39) |
|
probably null |
Het |
| Lig1 |
A |
G |
7: 13,043,131 (GRCm39) |
K859E |
probably benign |
Het |
| Ly6g6f |
T |
C |
17: 35,300,146 (GRCm39) |
D234G |
possibly damaging |
Het |
| Mmp11 |
G |
T |
10: 75,764,304 (GRCm39) |
L54I |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,358,092 (GRCm39) |
L1048Q |
probably damaging |
Het |
| Or4c122 |
C |
A |
2: 89,079,566 (GRCm39) |
M157I |
probably benign |
Het |
| Or6k14 |
A |
G |
1: 173,927,401 (GRCm39) |
I126V |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,900,136 (GRCm39) |
M284K |
probably benign |
Het |
| Or8g17 |
T |
C |
9: 38,930,697 (GRCm39) |
I47V |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,764,089 (GRCm39) |
D474G |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,306,628 (GRCm39) |
Y1401H |
probably damaging |
Het |
| Prrg4 |
T |
A |
2: 104,663,035 (GRCm39) |
E190D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,333,092 (GRCm39) |
F2767S |
probably damaging |
Het |
| Scgb1b2 |
T |
A |
7: 30,991,155 (GRCm39) |
|
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,523,065 (GRCm39) |
|
probably null |
Het |
| Slc12a4 |
A |
G |
8: 106,671,033 (GRCm39) |
S1014P |
probably damaging |
Het |
| Spns2 |
A |
T |
11: 72,348,130 (GRCm39) |
I279N |
possibly damaging |
Het |
| Spta1 |
A |
T |
1: 174,071,746 (GRCm39) |
H2242L |
probably benign |
Het |
| Tcaf3 |
T |
A |
6: 42,574,063 (GRCm39) |
I50F |
probably damaging |
Het |
| Tnfaip8l1 |
G |
A |
17: 56,479,214 (GRCm39) |
S168N |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,271,751 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,782,847 (GRCm39) |
N38K |
possibly damaging |
Het |
| Ube2o |
T |
C |
11: 116,435,199 (GRCm39) |
T530A |
probably benign |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,677 (GRCm39) |
V346A |
possibly damaging |
Het |
| Vmn2r86 |
A |
C |
10: 130,288,858 (GRCm39) |
D214E |
probably damaging |
Het |
| Wwc1 |
C |
A |
11: 35,732,751 (GRCm39) |
D986Y |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,199,754 (GRCm39) |
D1184G |
probably damaging |
Het |
|
| Other mutations in Edc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Edc4
|
APN |
8 |
106,607,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01069:Edc4
|
APN |
8 |
106,613,766 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01470:Edc4
|
APN |
8 |
106,616,613 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01656:Edc4
|
APN |
8 |
106,613,009 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02135:Edc4
|
APN |
8 |
106,612,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02825:Edc4
|
APN |
8 |
106,617,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Edc4
|
APN |
8 |
106,613,943 (GRCm39) |
splice site |
probably null |
|
|
IGL03401:Edc4
|
APN |
8 |
106,614,146 (GRCm39) |
nonsense |
probably null |
|
|
IGL03409:Edc4
|
APN |
8 |
106,611,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Armor
|
UTSW |
8 |
106,617,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
crossbow
|
UTSW |
8 |
106,617,051 (GRCm39) |
critical splice donor site |
probably null |
|
|
mail
|
UTSW |
8 |
106,612,941 (GRCm39) |
splice site |
probably null |
|
|
Post
|
UTSW |
8 |
106,614,146 (GRCm39) |
nonsense |
probably null |
|
|
sling
|
UTSW |
8 |
106,612,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Edc4
|
UTSW |
8 |
106,613,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Edc4
|
UTSW |
8 |
106,616,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0614:Edc4
|
UTSW |
8 |
106,616,028 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0631:Edc4
|
UTSW |
8 |
106,617,424 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1067:Edc4
|
UTSW |
8 |
106,617,637 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1270:Edc4
|
UTSW |
8 |
106,617,896 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1371:Edc4
|
UTSW |
8 |
106,617,382 (GRCm39) |
unclassified |
probably benign |
|
|
R1384:Edc4
|
UTSW |
8 |
106,619,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1417:Edc4
|
UTSW |
8 |
106,614,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1423:Edc4
|
UTSW |
8 |
106,617,843 (GRCm39) |
unclassified |
probably benign |
|
|
R1446:Edc4
|
UTSW |
8 |
106,614,764 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1472:Edc4
|
UTSW |
8 |
106,619,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1797:Edc4
|
UTSW |
8 |
106,617,717 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2086:Edc4
|
UTSW |
8 |
106,614,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2092:Edc4
|
UTSW |
8 |
106,614,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3079:Edc4
|
UTSW |
8 |
106,611,750 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3551:Edc4
|
UTSW |
8 |
106,612,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4492:Edc4
|
UTSW |
8 |
106,611,700 (GRCm39) |
frame shift |
probably null |
|
|
R4650:Edc4
|
UTSW |
8 |
106,619,307 (GRCm39) |
nonsense |
probably null |
|
|
R4735:Edc4
|
UTSW |
8 |
106,613,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Edc4
|
UTSW |
8 |
106,614,557 (GRCm39) |
intron |
probably benign |
|
|
R5530:Edc4
|
UTSW |
8 |
106,615,886 (GRCm39) |
nonsense |
probably null |
|
|
R5851:Edc4
|
UTSW |
8 |
106,617,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5889:Edc4
|
UTSW |
8 |
106,614,654 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5903:Edc4
|
UTSW |
8 |
106,617,219 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5996:Edc4
|
UTSW |
8 |
106,614,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6078:Edc4
|
UTSW |
8 |
106,614,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6079:Edc4
|
UTSW |
8 |
106,614,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6143:Edc4
|
UTSW |
8 |
106,612,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Edc4
|
UTSW |
8 |
106,614,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Edc4
|
UTSW |
8 |
106,612,941 (GRCm39) |
splice site |
probably null |
|
|
R7368:Edc4
|
UTSW |
8 |
106,615,037 (GRCm39) |
small deletion |
probably benign |
|
|
R7429:Edc4
|
UTSW |
8 |
106,618,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Edc4
|
UTSW |
8 |
106,618,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Edc4
|
UTSW |
8 |
106,614,146 (GRCm39) |
nonsense |
probably null |
|
|
R8056:Edc4
|
UTSW |
8 |
106,617,116 (GRCm39) |
unclassified |
probably benign |
|
|
R8236:Edc4
|
UTSW |
8 |
106,618,905 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8388:Edc4
|
UTSW |
8 |
106,614,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Edc4
|
UTSW |
8 |
106,611,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776:Edc4
|
UTSW |
8 |
106,613,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776-TAIL:Edc4
|
UTSW |
8 |
106,613,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8900:Edc4
|
UTSW |
8 |
106,617,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Edc4
|
UTSW |
8 |
106,613,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Edc4
|
UTSW |
8 |
106,613,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9133:Edc4
|
UTSW |
8 |
106,611,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9147:Edc4
|
UTSW |
8 |
106,612,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Edc4
|
UTSW |
8 |
106,617,051 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9556:Edc4
|
UTSW |
8 |
106,615,067 (GRCm39) |
small deletion |
probably benign |
|
|
RF009:Edc4
|
UTSW |
8 |
106,615,812 (GRCm39) |
missense |
probably benign |
0.27 |
|
RF014:Edc4
|
UTSW |
8 |
106,611,232 (GRCm39) |
missense |
probably benign |
|
|
U15987:Edc4
|
UTSW |
8 |
106,614,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0018:Edc4
|
UTSW |
8 |
106,613,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Edc4
|
UTSW |
8 |
106,611,212 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2014-02-04 |
Incidental Mutation