Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Edc4'

456450

Institutional Source

Beutler Lab

Gene Symbol

Edc4

Ensembl Gene

ENSMUSG00000036270

Gene Name

enhancer of mRNA decapping 4

Synonyms

MMRRC Submission

044101-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105880881-105894908 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105890587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1029 (T1029A)

Ref Sequence

ENSEMBL: ENSMUSP00000039134 (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
AA Change: T1029A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: T1029A

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
AA Change: T1013A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: T1013A

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
AA Change: T977A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: T977A

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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 65,988,318	V150A	unknown	Het
Abraxas1	T	C	5: 100,817,958		probably null	Het
Actl7a	G	T	4: 56,743,827	R118L	probably damaging	Het
Atg2b	T	C	12: 105,639,359	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,706,293	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,712,279	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760	D347G	probably damaging	Het
Baz2b	C	T	2: 59,959,889	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,930,542	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,173,772	Q745*	probably null	Het
Cep97	G	A	16: 55,919,526	S185L	probably damaging	Het
Clec4d	A	G	6: 123,267,061	H43R	probably damaging	Het
Cntn3	T	A	6: 102,242,133	M509L	probably benign	Het
Cntrob	A	C	11: 69,309,375	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,507,277	N37I	possibly damaging	Het
Fam160b2	A	T	14: 70,591,681	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,171,444		probably null	Het
Fzd6	T	A	15: 39,007,388	M1K	probably null	Het
Gle1	C	A	2: 29,940,281	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,565,962	V161A	probably damaging	Het
Hsf2	T	C	10: 57,504,723	S218P	probably benign	Het
Ipo7	T	A	7: 110,050,813	C736S	probably damaging	Het
Itpkb	G	T	1: 180,413,975	V737L	probably damaging	Het
Itpr1	T	C	6: 108,489,797		probably benign	Het
Kcnh8	G	T	17: 52,803,336	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,380,462		probably benign	Het
Kdm3a	C	A	6: 71,632,250		probably benign	Het
Kif5a	T	A	10: 127,230,578	M990L	probably benign	Het
Klf12	A	G	14: 100,022,688	S202P	probably damaging	Het
Krt81	T	G	15: 101,460,202	Q390P	probably damaging	Het
Lrig3	T	C	10: 126,008,478	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,258,248	V48D	probably damaging	Het
Mta1	C	T	12: 113,136,619	P688L	probably damaging	Het
Oas1h	T	C	5: 120,870,977	V250A	probably damaging	Het
Olfr618	G	T	7: 103,597,921	G202*	probably null	Het
Olfr95	A	T	17: 37,211,021	Y277*	probably null	Het
P2rx3	T	C	2: 85,000,727	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,345,286	I101T	possibly damaging	Het
Psme4	A	T	11: 30,841,589	N1148I	probably benign	Het
Rnf213	T	C	11: 119,421,369	L874P	probably damaging	Het
Sart3	T	C	5: 113,751,239	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,970,133		probably benign	Het
Slc9b1	C	T	3: 135,392,894		probably benign	Het
Stmn3	T	C	2: 181,308,780	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,394,106	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,148,785	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,223,981	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,215,123	P113L	probably damaging	Het
Unc5a	T	A	13: 54,999,690	C438S	possibly damaging	Het
Zan	C	A	5: 137,442,134	C1946F	unknown	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
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
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'- TATCCTTGGGGTAGTGGCACAG -3'
(R):5'- CTTGGTAGCCACTGAGTTGC -3'

Sequencing Primer
(F):5'- GCACAGCATGGTAGTAAGATGC -3'
(R):5'- CAGACTTCTGGAGACACCTAGG -3'

Posted On

2017-02-15