Mutagenetix > Incidental Mutations

Incidental Mutation 'R2092:Edc4'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105880881-105894908 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105887528 bp (GRCm38)

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: 121,674,937	C1321*	probably null	Het
Abca8b	A	G	11: 109,966,708	F673L	possibly damaging	Het
Adam19	T	G	11: 46,060,904		probably null	Het
AI987944	T	C	7: 41,374,617	T313A	possibly damaging	Het
Akap13	A	T	7: 75,610,570	I178F	probably benign	Het
Alb	G	GA	5: 90,463,983		probably null	Het
Bod1l	A	G	5: 41,831,517	S416P	probably damaging	Het
Casr	A	T	16: 36,510,043	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,404,426	N152S	probably benign	Het
Chrdl2	T	A	7: 100,020,977	C102*	probably null	Het
Col4a4	G	A	1: 82,498,946	S554L	unknown	Het
Col6a4	T	C	9: 106,060,331	K1392R	probably damaging	Het
Dab1	T	G	4: 104,678,777	Y128D	probably damaging	Het
Dars	A	T	1: 128,374,018	M293K	probably damaging	Het
Dlec1	T	C	9: 119,121,844	F493L	possibly damaging	Het
Dmbt1	G	T	7: 131,050,018	W330L	probably damaging	Het
Dnah11	A	T	12: 118,012,716	M831K	possibly damaging	Het
Dock7	T	C	4: 99,009,308	N715S	possibly damaging	Het
Edem2	T	C	2: 155,709,049	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Fto	C	A	8: 91,409,687	Y194*	probably null	Het
Gnptab	T	G	10: 88,440,305	Y1151*	probably null	Het
Grm1	A	G	10: 10,689,225	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,127,800	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,969,514	D70G	probably damaging	Het
Irx4	C	A	13: 73,265,486	T25K	probably damaging	Het
Kif22	C	T	7: 127,033,630	D195N	probably damaging	Het
Lrp2	C	T	2: 69,536,021	D245N	probably benign	Het
Lyz1	C	T	10: 117,288,599	R144Q	probably benign	Het
Macf1	T	A	4: 123,383,178	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
Myh9	G	A	15: 77,764,350	Q80*	probably null	Het
Myo6	G	T	9: 80,245,682	R199L	probably damaging	Het
Naglu	G	A	11: 101,076,720	V499I	possibly damaging	Het
Nfkbie	T	C	17: 45,558,539	F140S	probably benign	Het
Olfr1208	A	G	2: 88,897,267	F110S	probably damaging	Het
Olfr1454	T	A	19: 13,063,802	Y130*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr598	G	A	7: 103,329,109	V208M	probably damaging	Het
Olfr67	A	T	7: 103,788,072	F68L	possibly damaging	Het
Olfr935	A	T	9: 38,995,189	L82Q	probably damaging	Het
Otop1	A	T	5: 38,299,766	I290F	probably damaging	Het
P2rx2	C	T	5: 110,341,141	D203N	probably damaging	Het
Pcdhb10	T	A	18: 37,414,187	I772N	probably benign	Het
Pnliprp1	A	G	19: 58,741,184	H423R	probably benign	Het
Ptk2	A	T	15: 73,236,191	Y56*	probably null	Het
Rapgef3	T	C	15: 97,760,723	D134G	probably damaging	Het
Scaf11	A	C	15: 96,415,827	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,533,376	M844V	probably damaging	Het
Sh3tc1	T	C	5: 35,700,658	E1121G	probably damaging	Het
Slc25a15	T	C	8: 22,380,934	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,718,855	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,909,454	D555E	probably benign	Het
Smc5	T	C	19: 23,238,899	I446V	probably benign	Het
St6gal2	T	C	17: 55,510,266	Y477H	probably damaging	Het
Syngr1	A	T	15: 80,115,940	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,157,720	L187P	probably damaging	Het
Tg	A	G	15: 66,849,607	I322V	probably null	Het
Thap12	T	C	7: 98,716,449	V608A	possibly damaging	Het
Tmbim6	T	C	15: 99,402,068	S22P	probably damaging	Het
Ttc3	C	T	16: 94,442,832	P1232S	probably benign	Het
Upk3a	A	G	15: 85,018,085	T38A	probably damaging	Het
Utrn	A	T	10: 12,678,698	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,835,153	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,354,715	T35A	possibly damaging	Het
Xkr7	C	T	2: 153,054,063	S279L	probably damaging	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp641	G	T	15: 98,293,712	T31N	probably benign	Het
Zfp74	G	A	7: 29,953,924		probably benign	Het

Other mutations in Edc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Edc4	APN	8	105881123	missense	probably damaging	1.00
IGL01069:Edc4	APN	8	105887134	missense	probably benign	0.35
IGL01470:Edc4	APN	8	105889981	unclassified	probably benign
IGL01656:Edc4	APN	8	105886377	missense	possibly damaging	0.55
IGL01804:Edc4	APN	8	105890657	missense	possibly damaging	0.92
IGL02135:Edc4	APN	8	105885822	missense	probably damaging	1.00
IGL02825:Edc4	APN	8	105890611	missense	probably damaging	1.00
IGL03036:Edc4	APN	8	105887311	splice site	probably null
IGL03401:Edc4	APN	8	105887514	nonsense	probably null
IGL03409:Edc4	APN	8	105885116	missense	probably damaging	1.00
Armor	UTSW	8	105890867	missense	probably damaging	1.00
mail	UTSW	8	105886309	splice site	probably null
Post	UTSW	8	105887514	nonsense	probably null
R0362:Edc4	UTSW	8	105886775	missense	probably damaging	1.00
R0541:Edc4	UTSW	8	105889428	missense	probably benign	0.00
R0614:Edc4	UTSW	8	105889396	missense	possibly damaging	0.93
R0631:Edc4	UTSW	8	105890792	missense	possibly damaging	0.57
R1067:Edc4	UTSW	8	105891005	missense	probably damaging	0.97
R1270:Edc4	UTSW	8	105891264	missense	possibly damaging	0.90
R1371:Edc4	UTSW	8	105890750	unclassified	probably benign
R1384:Edc4	UTSW	8	105892382	missense	probably damaging	1.00
R1417:Edc4	UTSW	8	105887855	critical splice donor site	probably null
R1423:Edc4	UTSW	8	105891211	unclassified	probably benign
R1446:Edc4	UTSW	8	105888132	missense	probably damaging	0.96
R1472:Edc4	UTSW	8	105892828	missense	probably damaging	0.99
R1797:Edc4	UTSW	8	105891085	missense	probably benign	0.03
R2086:Edc4	UTSW	8	105888002	missense	probably damaging	1.00
R3079:Edc4	UTSW	8	105885118	missense	possibly damaging	0.86
R3551:Edc4	UTSW	8	105885494	missense	probably damaging	1.00
R4492:Edc4	UTSW	8	105885068	frame shift	probably null
R4650:Edc4	UTSW	8	105892675	nonsense	probably null
R4735:Edc4	UTSW	8	105887186	missense	probably damaging	1.00
R4854:Edc4	UTSW	8	105887925	intron	probably benign
R5530:Edc4	UTSW	8	105889254	nonsense	probably null
R5851:Edc4	UTSW	8	105890867	missense	probably damaging	1.00
R5889:Edc4	UTSW	8	105888022	missense	possibly damaging	0.87
R5903:Edc4	UTSW	8	105890587	missense	probably benign	0.04
R5996:Edc4	UTSW	8	105887401	missense	probably damaging	1.00
R6078:Edc4	UTSW	8	105887548	missense	probably benign	0.01
R6079:Edc4	UTSW	8	105887548	missense	probably benign	0.01
R6143:Edc4	UTSW	8	105885874	missense	probably damaging	1.00
R7072:Edc4	UTSW	8	105888002	missense	probably damaging	1.00
R7211:Edc4	UTSW	8	105886309	splice site	probably null
R7368:Edc4	UTSW	8	105888405	small deletion	probably benign
R7429:Edc4	UTSW	8	105891584	missense	probably damaging	1.00
R7430:Edc4	UTSW	8	105891584	missense	probably damaging	1.00
R7787:Edc4	UTSW	8	105887514	nonsense	probably null
R8056:Edc4	UTSW	8	105890484	unclassified	probably benign
R8236:Edc4	UTSW	8	105892273	missense	possibly damaging	0.83
R8388:Edc4	UTSW	8	105887507	missense	probably damaging	1.00
R8529:Edc4	UTSW	8	105885050	missense	probably damaging	1.00
R8776:Edc4	UTSW	8	105887360	missense	probably damaging	1.00
R8776-TAIL:Edc4	UTSW	8	105887360	missense	probably damaging	1.00
R8900:Edc4	UTSW	8	105891225	missense	probably damaging	1.00
R9032:Edc4	UTSW	8	105887007	missense	probably damaging	1.00
R9051:Edc4	UTSW	8	105887201	missense	probably damaging	1.00
R9133:Edc4	UTSW	8	105885146	critical splice donor site	probably null
R9147:Edc4	UTSW	8	105885846	missense	probably damaging	1.00
R9200:Edc4	UTSW	8	105890419	critical splice donor site	probably null
RF009:Edc4	UTSW	8	105889180	missense	probably benign	0.27
RF014:Edc4	UTSW	8	105884600	missense	probably benign
U15987:Edc4	UTSW	8	105887548	missense	probably benign	0.01
X0018:Edc4	UTSW	8	105887001	missense	probably damaging	1.00
X0063:Edc4	UTSW	8	105884580	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