Mutagenetix > Incidental Mutation

Incidental Mutation 'R1371:Edc4'

157320

Institutional Source

Beutler Lab

Gene Symbol

Edc4

Ensembl Gene

ENSMUSG00000036270

Gene Name

enhancer of mRNA decapping 4

Synonyms

MMRRC Submission

039435-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105880881-105894908 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 105890750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040254] [ENSMUST00000060167] [ENSMUST00000118920] [ENSMUST00000119261] [ENSMUST00000136048] [ENSMUST00000145618]

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 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 benign
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 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 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 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,953,553	D884V	probably damaging	Het
Acvr2a	C	T	2: 48,899,616	T457M	probably damaging	Het
Akr1b10	C	T	6: 34,392,459	T208I	probably benign	Het
Aldh16a1	G	T	7: 45,147,250	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Asgr1	T	G	11: 70,056,097	C56W	probably benign	Het
Atp11b	T	C	3: 35,806,769	I335T	probably damaging	Het
BC061237	A	G	14: 44,504,305		probably benign	Het
Bdh1	G	T	16: 31,456,902	K280N	probably benign	Het
Bmp1	C	T	14: 70,492,466	C466Y	probably damaging	Het
Ccdc181	A	G	1: 164,280,603	E285G	probably benign	Het
Ces1f	C	T	8: 93,279,649	G18R	probably damaging	Het
Cfap43	T	A	19: 47,835,606	I109L	possibly damaging	Het
Cma2	T	C	14: 55,972,826	L56S	probably damaging	Het
F3	T	C	3: 121,732,510	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,445,003	S972C	probably damaging	Het
H2afy2	A	T	10: 61,749,333	D177E	possibly damaging	Het
Heatr1	T	G	13: 12,417,632	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,196,894		probably benign	Het
Ice1	T	C	13: 70,596,221	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,442,713	N194D	probably damaging	Het
Ip6k1	G	A	9: 108,045,823	V385M	probably damaging	Het
Lig1	G	A	7: 13,288,685	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,647,153	V41I	probably damaging	Het
Mst1r	T	A	9: 107,917,225	V1201E	probably damaging	Het
Myof	T	C	19: 37,903,668		probably benign	Het
Nbas	G	T	12: 13,482,378		probably benign	Het
Ndst1	A	G	18: 60,707,647	I321T	possibly damaging	Het
Nek10	G	A	14: 14,850,983	G343R	probably damaging	Het
Olfr13	A	T	6: 43,174,300	T105S	probably benign	Het
Olfr1385	T	A	11: 49,494,823	C97S	probably damaging	Het
Olfr462	A	T	11: 87,889,296	I200N	probably damaging	Het
Pde4d	T	C	13: 109,117,061	S141P	probably benign	Het
Pigm	A	T	1: 172,376,814	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,662,767	I88F	probably benign	Het
Prss16	T	A	13: 22,008,686		probably benign	Het
Psmc4	G	A	7: 28,042,797		probably benign	Het
Ptger3	T	A	3: 157,567,728	C237*	probably null	Het
Recql	G	A	6: 142,372,875	T214M	probably damaging	Het
Rfx7	T	A	9: 72,619,575	V1349D	probably damaging	Het
Ros1	A	G	10: 52,087,945	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,946,809	S83T	probably benign	Het
Sall4	A	G	2: 168,756,474	Y149H	probably benign	Het
Smad1	A	G	8: 79,349,578		probably benign	Het
Snrnp70	T	C	7: 45,380,705		probably benign	Het
Spef2	C	A	15: 9,725,108		probably benign	Het
Sptlc1	T	C	13: 53,351,624	T253A	probably benign	Het
Zbbx	T	C	3: 75,052,477	Y595C	possibly damaging	Het
Zfp382	T	C	7: 30,133,689	V255A	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
crossbow	UTSW	8	105890419	critical splice donor site	probably null
mail	UTSW	8	105886309	splice site	probably null
Post	UTSW	8	105887514	nonsense	probably null
sling	UTSW	8	105885846	missense	probably damaging	1.00
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
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
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
R9556:Edc4	UTSW	8	105888435	small deletion	probably benign
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'- GTTCCTTAGCTCCACCACAGAACG -3'
(R):5'- AGTTGAAAGCCTGAGCCCAACC -3'

Sequencing Primer
(F):5'- AACGGGCACTGGCTGAG -3'
(R):5'- AACCTGGCCTGTCTAGCTAC -3'

Posted On

2014-02-18