Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01804:Edc4'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01804

Quality Score

Status

Chromosome

Chromosomal Location

105880881-105894908 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105890657 bp

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]

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156357

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: 71,276,183	N1860D	probably benign	Het
Abca2	T	A	2: 25,446,625	C2248S	probably damaging	Het
Adamts16	G	A	13: 70,800,961	Q194*	probably null	Het
Cetn3	A	T	13: 81,784,660	K13*	probably null	Het
Cldn18	T	A	9: 99,698,848	K116*	probably null	Het
Cntn5	T	A	9: 9,831,537	I613F	probably damaging	Het
Cyp46a1	A	G	12: 108,355,486	I324V	probably benign	Het
Ddb1	A	C	19: 10,613,018	E303A	probably damaging	Het
Dnajc2	A	G	5: 21,757,363	V539A	probably damaging	Het
Dock2	T	A	11: 34,262,433	Y1236F	probably benign	Het
Dpf1	T	A	7: 29,316,501	C383S	probably damaging	Het
Ehmt1	A	G	2: 24,791,954	L1243P	probably damaging	Het
Exoc6b	A	G	6: 84,908,166	S264P	probably damaging	Het
Gbx2	T	C	1: 89,928,981	E229G	probably benign	Het
Hip1r	T	A	5: 124,001,550		probably null	Het
Lig1	A	G	7: 13,309,206	K859E	probably benign	Het
Ly6g6f	T	C	17: 35,081,170	D234G	possibly damaging	Het
Mmp11	G	T	10: 75,928,470	L54I	probably benign	Het
Naip5	A	T	13: 100,221,584	L1048Q	probably damaging	Het
Olfr1228	C	A	2: 89,249,222	M157I	probably benign	Het
Olfr146	T	C	9: 39,019,401	I47V	probably benign	Het
Olfr427	A	G	1: 174,099,835	I126V	probably damaging	Het
Olfr834	T	A	9: 18,988,840	M284K	probably benign	Het
Pappa2	T	C	1: 158,936,519	D474G	probably benign	Het
Plxna1	A	G	6: 89,329,646	Y1401H	probably damaging	Het
Prrg4	T	A	2: 104,832,690	E190D	probably damaging	Het
Rnf213	T	C	11: 119,442,266	F2767S	probably damaging	Het
Scgb1b2	T	A	7: 31,291,730		probably benign	Het
Sec31a	A	G	5: 100,375,206		probably null	Het
Slc12a4	A	G	8: 105,944,401	S1014P	probably damaging	Het
Spns2	A	T	11: 72,457,304	I279N	possibly damaging	Het
Spta1	A	T	1: 174,244,180	H2242L	probably benign	Het
Tcaf3	T	A	6: 42,597,129	I50F	probably damaging	Het
Tnfaip8l1	G	A	17: 56,172,214	S168N	probably benign	Het
Trak1	C	T	9: 121,442,685		probably benign	Het
Trpv4	A	T	5: 114,644,786	N38K	possibly damaging	Het
Ube2o	T	C	11: 116,544,373	T530A	probably benign	Het
Vmn2r2	A	G	3: 64,134,256	V346A	possibly damaging	Het
Vmn2r86	A	C	10: 130,452,989	D214E	probably damaging	Het
Wwc1	C	A	11: 35,841,924	D986Y	probably damaging	Het
Xdh	T	C	17: 73,892,759	D1184G	probably damaging	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
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
R2092:Edc4	UTSW	8	105887528	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
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

Posted On

2014-02-04