Incidental Mutation 'R1417:Edc4'
| ID |
159856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edc4
|
| Ensembl Gene |
ENSMUSG00000036270 |
| Gene Name |
enhancer of mRNA decapping 4 |
| Synonyms |
|
| MMRRC Submission |
039473-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106607506-106619857 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 106614487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040254]
[ENSMUST00000119261]
[ENSMUST00000136048]
[ENSMUST00000145618]
[ENSMUST00000145618]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040254
|
| SMART Domains |
Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
| 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 null
Transcript: ENSMUST00000119261
|
| SMART Domains |
Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
| 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 null
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: 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 benign
Transcript: ENSMUST00000136048
|
| SMART Domains |
Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
| 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 |
probably null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156357
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.8%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
A |
G |
16: 29,117,053 (GRCm39) |
V565A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,730,862 (GRCm39) |
S196P |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Clu |
T |
A |
14: 66,212,420 (GRCm39) |
Y124* |
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,458,162 (GRCm39) |
E658G |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,846,573 (GRCm39) |
E2913G |
probably damaging |
Het |
| Enox1 |
C |
T |
14: 77,723,445 (GRCm39) |
|
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,053,312 (GRCm39) |
V122A |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,652 (GRCm39) |
S453G |
possibly damaging |
Het |
| Gm12185 |
A |
C |
11: 48,798,669 (GRCm39) |
V608G |
probably damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,722 (GRCm39) |
D135G |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,244,947 (GRCm39) |
T891A |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,993 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Ipo8 |
C |
T |
6: 148,719,550 (GRCm39) |
D132N |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,363,115 (GRCm39) |
E147G |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,764,311 (GRCm39) |
V41D |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,653 (GRCm39) |
I2306V |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,636,425 (GRCm39) |
V1514A |
probably benign |
Het |
| Lrrtm2 |
A |
T |
18: 35,347,011 (GRCm39) |
I97N |
probably damaging |
Het |
| Mtmr3 |
C |
A |
11: 4,437,923 (GRCm39) |
V844L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,197,011 (GRCm39) |
E1832G |
probably damaging |
Het |
| Or4n5 |
T |
A |
14: 50,133,020 (GRCm39) |
R80* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,180 (GRCm39) |
T47A |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,655,755 (GRCm39) |
K293E |
probably benign |
Het |
| Phlpp2 |
G |
T |
8: 110,667,313 (GRCm39) |
E1281* |
probably null |
Het |
| Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
| Slc8a1 |
T |
G |
17: 81,715,709 (GRCm39) |
M775L |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,587,853 (GRCm39) |
|
probably null |
Het |
| Syt11 |
A |
T |
3: 88,669,289 (GRCm39) |
I201N |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,783,327 (GRCm39) |
N543S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,812 (GRCm39) |
N764S |
probably benign |
Het |
| Xylb |
A |
G |
9: 119,193,606 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,500,284 (GRCm39) |
|
probably null |
Het |
| Zkscan16 |
T |
C |
4: 58,952,377 (GRCm39) |
V225A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTTGCTCATGCAGGTCCTC -3'
(R):5'- AAGCTGCCTAGTCAGGTCTCCAAG -3'
Sequencing Primer
(F):5'- ATCCAGGTTGTCAGTCGC -3'
(R):5'- ACAGCAGTGGAACCTGTCTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation