Incidental Mutation 'R2092:Edc4'
ID |
231849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Edc4
|
Ensembl Gene |
ENSMUSG00000036270 |
Gene Name |
enhancer of mRNA decapping 4 |
Synonyms |
|
MMRRC Submission |
040097-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2092 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
106607506-106619857 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106614160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 12
(L12Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040254]
[ENSMUST00000119261]
[ENSMUST00000136048]
[ENSMUST00000145618]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040254
AA Change: L437Q
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000039134 Gene: ENSMUSG00000036270 AA Change: L437Q
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 |
possibly damaging
Transcript: ENSMUST00000119261
AA Change: L437Q
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113854 Gene: ENSMUSG00000036270 AA Change: L437Q
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 damaging
Transcript: ENSMUST00000132680
AA Change: L16Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114209 Gene: ENSMUSG00000036270 AA Change: L16Q
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: L377Q
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114285 Gene: ENSMUSG00000036270 AA Change: L377Q
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 damaging
Transcript: ENSMUST00000145618
AA Change: L12Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118162 Gene: ENSMUSG00000036270 AA Change: L12Q
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,651,896 (GRCm39) |
C1321* |
probably null |
Het |
Abca8b |
A |
G |
11: 109,857,534 (GRCm39) |
F673L |
possibly damaging |
Het |
Adam19 |
T |
G |
11: 45,951,731 (GRCm39) |
|
probably null |
Het |
AI987944 |
T |
C |
7: 41,024,041 (GRCm39) |
T313A |
possibly damaging |
Het |
Akap13 |
A |
T |
7: 75,260,318 (GRCm39) |
I178F |
probably benign |
Het |
Alb |
G |
GA |
5: 90,611,842 (GRCm39) |
|
probably null |
Het |
Bod1l |
A |
G |
5: 41,988,860 (GRCm39) |
S416P |
probably damaging |
Het |
Casr |
A |
T |
16: 36,330,405 (GRCm39) |
Y310N |
possibly damaging |
Het |
Cela3a |
T |
C |
4: 137,131,737 (GRCm39) |
N152S |
probably benign |
Het |
Chrdl2 |
T |
A |
7: 99,670,184 (GRCm39) |
C102* |
probably null |
Het |
Col4a4 |
G |
A |
1: 82,476,667 (GRCm39) |
S554L |
unknown |
Het |
Col6a4 |
T |
C |
9: 105,937,530 (GRCm39) |
K1392R |
probably damaging |
Het |
Dab1 |
T |
G |
4: 104,535,974 (GRCm39) |
Y128D |
probably damaging |
Het |
Dars1 |
A |
T |
1: 128,301,755 (GRCm39) |
M293K |
probably damaging |
Het |
Dlec1 |
T |
C |
9: 118,950,912 (GRCm39) |
F493L |
possibly damaging |
Het |
Dmbt1 |
G |
T |
7: 130,651,748 (GRCm39) |
W330L |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 117,976,451 (GRCm39) |
M831K |
possibly damaging |
Het |
Dock7 |
T |
C |
4: 98,897,545 (GRCm39) |
N715S |
possibly damaging |
Het |
Edem2 |
T |
C |
2: 155,550,969 (GRCm39) |
M333V |
probably benign |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Fto |
C |
A |
8: 92,136,315 (GRCm39) |
Y194* |
probably null |
Het |
Gnptab |
T |
G |
10: 88,276,167 (GRCm39) |
Y1151* |
probably null |
Het |
Grm1 |
A |
G |
10: 10,564,969 (GRCm39) |
L1113P |
probably benign |
Het |
Hnrnpa0 |
T |
C |
13: 58,275,614 (GRCm39) |
K172E |
probably damaging |
Het |
Ifitm1 |
A |
G |
7: 140,549,427 (GRCm39) |
D70G |
probably damaging |
Het |
Irx4 |
C |
A |
13: 73,413,605 (GRCm39) |
T25K |
probably damaging |
Het |
Kif22 |
C |
T |
7: 126,632,802 (GRCm39) |
D195N |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,366,365 (GRCm39) |
D245N |
probably benign |
Het |
Lyz1 |
C |
T |
10: 117,124,504 (GRCm39) |
R144Q |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,276,971 (GRCm39) |
T6055S |
probably damaging |
Het |
Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
Myh9 |
G |
A |
15: 77,648,550 (GRCm39) |
Q80* |
probably null |
Het |
Myo6 |
G |
T |
9: 80,152,964 (GRCm39) |
R199L |
probably damaging |
Het |
Naglu |
G |
A |
11: 100,967,546 (GRCm39) |
V499I |
possibly damaging |
Het |
Nfkbie |
T |
C |
17: 45,869,465 (GRCm39) |
F140S |
probably benign |
Het |
Or4p8 |
A |
G |
2: 88,727,611 (GRCm39) |
F110S |
probably damaging |
Het |
Or52ab7 |
G |
A |
7: 102,978,316 (GRCm39) |
V208M |
probably damaging |
Het |
Or52z1 |
A |
T |
7: 103,437,279 (GRCm39) |
F68L |
possibly damaging |
Het |
Or5b102 |
T |
A |
19: 13,041,166 (GRCm39) |
Y130* |
probably null |
Het |
Or5p81 |
CAAATA |
CA |
7: 108,266,869 (GRCm39) |
|
probably null |
Het |
Or8g21 |
A |
T |
9: 38,906,485 (GRCm39) |
L82Q |
probably damaging |
Het |
Otop1 |
A |
T |
5: 38,457,110 (GRCm39) |
I290F |
probably damaging |
Het |
P2rx2 |
C |
T |
5: 110,489,007 (GRCm39) |
D203N |
probably damaging |
Het |
Pcdhb10 |
T |
A |
18: 37,547,240 (GRCm39) |
I772N |
probably benign |
Het |
Pnliprp1 |
A |
G |
19: 58,729,616 (GRCm39) |
H423R |
probably benign |
Het |
Ptk2 |
A |
T |
15: 73,108,040 (GRCm39) |
Y56* |
probably null |
Het |
Rapgef3 |
T |
C |
15: 97,658,604 (GRCm39) |
D134G |
probably damaging |
Het |
Scaf11 |
A |
C |
15: 96,313,708 (GRCm39) |
S1358A |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,363,720 (GRCm39) |
M844V |
probably damaging |
Het |
Sh3tc1 |
T |
C |
5: 35,858,002 (GRCm39) |
E1121G |
probably damaging |
Het |
Slc25a15 |
T |
C |
8: 22,870,950 (GRCm39) |
T176A |
probably damaging |
Het |
Slc29a4 |
T |
A |
5: 142,704,610 (GRCm39) |
I384N |
probably damaging |
Het |
Slc40a1 |
A |
T |
1: 45,948,614 (GRCm39) |
D555E |
probably benign |
Het |
Smc5 |
T |
C |
19: 23,216,263 (GRCm39) |
I446V |
probably benign |
Het |
St6gal2 |
T |
C |
17: 55,817,267 (GRCm39) |
Y477H |
probably damaging |
Het |
Syngr1 |
A |
T |
15: 80,000,141 (GRCm39) |
Q84L |
possibly damaging |
Het |
Tedc1 |
T |
C |
12: 113,121,340 (GRCm39) |
L187P |
probably damaging |
Het |
Tg |
A |
G |
15: 66,721,456 (GRCm39) |
I322V |
probably null |
Het |
Thap12 |
T |
C |
7: 98,365,656 (GRCm39) |
V608A |
possibly damaging |
Het |
Tmbim6 |
T |
C |
15: 99,299,949 (GRCm39) |
S22P |
probably damaging |
Het |
Ttc3 |
C |
T |
16: 94,243,691 (GRCm39) |
P1232S |
probably benign |
Het |
Upk3a |
A |
G |
15: 84,902,286 (GRCm39) |
T38A |
probably damaging |
Het |
Utrn |
A |
T |
10: 12,554,442 (GRCm39) |
M1549K |
probably benign |
Het |
Vmn1r176 |
C |
T |
7: 23,534,578 (GRCm39) |
D192N |
probably damaging |
Het |
Vmn1r198 |
A |
G |
13: 22,538,885 (GRCm39) |
T35A |
possibly damaging |
Het |
Xkr7 |
C |
T |
2: 152,895,983 (GRCm39) |
S279L |
probably damaging |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp641 |
G |
T |
15: 98,191,593 (GRCm39) |
T31N |
probably benign |
Het |
Zfp74 |
G |
A |
7: 29,653,349 (GRCm39) |
|
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 |
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 |
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'- CTTCAGCTCAGTGAGTGTGC -3'
(R):5'- AACGTATAATCCTGCCCCTG -3'
Sequencing Primer
(F):5'- AGCCTCAAAGTTTGTTTGGACC -3'
(R):5'- TGGGCAACTCACCGGTC -3'
|
Posted On |
2014-09-18 |