Incidental Mutation 'R4650:Edc4'
| ID |
351224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edc4
|
| Ensembl Gene |
ENSMUSG00000036270 |
| Gene Name |
enhancer of mRNA decapping 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4650 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106607506-106619857 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 106619307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 1293
(L1293*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040254]
[ENSMUST00000060167]
[ENSMUST00000118920]
[ENSMUST00000119261]
[ENSMUST00000136048]
[ENSMUST00000145618]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040254
AA Change: L1345*
|
| SMART Domains |
Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: L1345*
| 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 |
probably null
Transcript: ENSMUST00000119261
AA Change: L1329*
|
| SMART Domains |
Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: L1329*
| 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 |
probably null
Transcript: ENSMUST00000136048
AA Change: L1293*
|
| SMART Domains |
Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: L1293*
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110025L11Rik |
T |
A |
16: 88,860,603 (GRCm39) |
Y77F |
unknown |
Het |
| 4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
| Aldoa |
A |
G |
7: 126,396,879 (GRCm39) |
S71P |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,893,266 (GRCm39) |
V979A |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,739,752 (GRCm39) |
T674A |
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,817,365 (GRCm39) |
M1232I |
probably benign |
Het |
| Capza1 |
A |
G |
3: 104,752,296 (GRCm39) |
V14A |
probably damaging |
Het |
| Cdk2 |
A |
T |
10: 128,538,364 (GRCm39) |
I135N |
probably damaging |
Het |
| Celf4 |
A |
T |
18: 25,629,302 (GRCm39) |
M407K |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,392,235 (GRCm39) |
D532E |
probably benign |
Het |
| Cideb |
A |
G |
14: 55,992,688 (GRCm39) |
V76A |
possibly damaging |
Het |
| Dbpht2 |
C |
G |
12: 74,345,933 (GRCm39) |
|
noncoding transcript |
Het |
| Dis3l2 |
A |
G |
1: 86,918,043 (GRCm39) |
D550G |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,006,844 (GRCm39) |
|
probably null |
Het |
| Elp5 |
A |
G |
11: 69,860,398 (GRCm39) |
V203A |
possibly damaging |
Het |
| Fndc7 |
T |
C |
3: 108,770,135 (GRCm39) |
N597S |
probably benign |
Het |
| Gjb3 |
T |
C |
4: 127,220,484 (GRCm39) |
Y16C |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,680,712 (GRCm39) |
D128G |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,363,025 (GRCm39) |
|
probably null |
Het |
| Gon4l |
G |
A |
3: 88,770,859 (GRCm39) |
D514N |
possibly damaging |
Het |
| Grhl3 |
T |
A |
4: 135,276,547 (GRCm39) |
|
probably null |
Het |
| Hoxc10 |
T |
C |
15: 102,875,698 (GRCm39) |
S136P |
probably benign |
Het |
| Ift22 |
G |
A |
5: 136,940,655 (GRCm39) |
V107I |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
| Lgi4 |
G |
A |
7: 30,768,554 (GRCm39) |
A518T |
probably benign |
Het |
| Lhx2 |
T |
A |
2: 38,250,052 (GRCm39) |
N290K |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,013,734 (GRCm39) |
C1092S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,412 (GRCm39) |
I2450V |
probably benign |
Het |
| Mefv |
A |
G |
16: 3,535,682 (GRCm39) |
L82P |
probably damaging |
Het |
| Myb |
A |
G |
10: 21,028,840 (GRCm39) |
L86P |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,977,270 (GRCm39) |
T333M |
probably damaging |
Het |
| Nek11 |
T |
C |
9: 105,225,279 (GRCm39) |
N78D |
possibly damaging |
Het |
| Nmi |
C |
A |
2: 51,838,646 (GRCm39) |
C296F |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,181,895 (GRCm39) |
T1163S |
probably benign |
Het |
| Npy4r |
C |
T |
14: 33,868,181 (GRCm39) |
G369D |
possibly damaging |
Het |
| Ola1 |
T |
C |
2: 72,972,309 (GRCm39) |
T221A |
probably damaging |
Het |
| Or51d1 |
A |
G |
7: 102,348,027 (GRCm39) |
D194G |
probably damaging |
Het |
| Or8c11 |
T |
C |
9: 38,289,699 (GRCm39) |
F168S |
probably damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,633,200 (GRCm39) |
N184K |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,513,088 (GRCm39) |
V129A |
probably benign |
Het |
| Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
| Pth |
A |
T |
7: 112,985,026 (GRCm39) |
*116K |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
| Rhox2a |
G |
C |
X: 36,508,962 (GRCm39) |
R43P |
probably benign |
Het |
| Rwdd3 |
A |
G |
3: 120,952,826 (GRCm39) |
F55S |
probably damaging |
Het |
| Serpinb9d |
A |
T |
13: 33,386,836 (GRCm39) |
L301F |
probably benign |
Het |
| Slc35e4 |
A |
G |
11: 3,862,677 (GRCm39) |
C171R |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,758,424 (GRCm39) |
I529K |
possibly damaging |
Het |
| Styk1 |
A |
T |
6: 131,277,532 (GRCm39) |
W370R |
probably damaging |
Het |
| Tmprss11e |
C |
A |
5: 86,875,212 (GRCm39) |
W18L |
probably damaging |
Het |
| Trpv1 |
A |
C |
11: 73,129,089 (GRCm39) |
E2A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,261,035 (GRCm39) |
I1799N |
probably damaging |
Het |
| Vmn1r213 |
G |
A |
13: 23,196,422 (GRCm39) |
C335Y |
possibly damaging |
Het |
| Vps37c |
C |
T |
19: 10,690,273 (GRCm39) |
S245L |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,745,537 (GRCm39) |
T1191A |
probably benign |
Het |
| Zfp13 |
A |
G |
17: 23,799,112 (GRCm39) |
L153P |
probably damaging |
Het |
| Zfp472 |
T |
G |
17: 33,196,631 (GRCm39) |
S235R |
possibly 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 |
|
IGL01804:Edc4
|
APN |
8 |
106,617,289 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCAGACACCCACTCTTGC -3'
(R):5'- TGACCTAAACCTGCCAACTG -3'
Sequencing Primer
(F):5'- GACACCCACTCTTGCCTGAC -3'
(R):5'- CCCTCTTTAAATGGCTAAGGGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation