Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03401:Edc4'

421429

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Edc4

Ensembl Gene

ENSMUSG00000036270

Gene Name

enhancer of mRNA decapping 4

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03401

Quality Score

Status

Chromosome

Chromosomal Location

106607506-106619857 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 106614146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 7 (Y7*)

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

probably null
Transcript: ENSMUST00000040254
AA Change: Y432*

SMART Domains

Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: Y432*

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 null
Transcript: ENSMUST00000119261
AA Change: Y432*

SMART Domains

Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: Y432*

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 null
Transcript: ENSMUST00000132680
AA Change: Y11*

SMART Domains

Protein: ENSMUSP00000114209
Gene: ENSMUSG00000036270
AA Change: Y11*

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 null
Transcript: ENSMUST00000136048
AA Change: Y372*

SMART Domains

Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: Y372*

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 null
Transcript: ENSMUST00000145618
AA Change: Y7*

SMART Domains

Protein: ENSMUSP00000118162
Gene: ENSMUSG00000036270
AA Change: Y7*

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

0.9756

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,223 (GRCm39)	R581*	probably null	Het
Actn1	A	T	12: 80,215,741 (GRCm39)	L799*	probably null	Het
Adam12	A	T	7: 133,518,192 (GRCm39)	N327K	probably damaging	Het
Adamts9	A	G	6: 92,763,849 (GRCm39)	V1314A	probably damaging	Het
Agbl4	G	T	4: 110,976,216 (GRCm39)	R191L	probably damaging	Het
Ano6	T	C	15: 95,847,786 (GRCm39)	I611T	probably damaging	Het
Arhgef26	T	A	3: 62,330,953 (GRCm39)	S556T	possibly damaging	Het
AW209491	A	G	13: 14,812,041 (GRCm39)	D298G	probably benign	Het
Cc2d1a	A	G	8: 84,861,258 (GRCm39)	M763T	probably benign	Het
Cep290	A	G	10: 100,336,127 (GRCm39)	D388G	probably benign	Het
Cept1	T	C	3: 106,440,706 (GRCm39)	E151G	probably damaging	Het
Chat	T	C	14: 32,174,526 (GRCm39)	K139E	probably damaging	Het
Enpep	T	A	3: 129,106,269 (GRCm39)	Q319L	probably benign	Het
F13a1	A	G	13: 37,082,054 (GRCm39)	I550T	probably benign	Het
Fbxw19	A	G	9: 109,324,038 (GRCm39)		probably null	Het
Frem3	T	G	8: 81,341,170 (GRCm39)	D1154E	probably damaging	Het
Frmpd1	G	T	4: 45,284,383 (GRCm39)	C1068F	probably benign	Het
Fsip2	C	A	2: 82,820,814 (GRCm39)	P5516T	probably benign	Het
Hyou1	G	A	9: 44,296,206 (GRCm39)	A429T	probably damaging	Het
Lrp1b	C	T	2: 41,000,790 (GRCm39)	E2145K	probably benign	Het
Map1b	A	T	13: 99,563,776 (GRCm39)	V2397D	unknown	Het
Mcm3ap	T	C	10: 76,320,483 (GRCm39)		probably benign	Het
Mgst2	T	G	3: 51,571,933 (GRCm39)	S20R	possibly damaging	Het
Nr4a3	T	A	4: 48,070,987 (GRCm39)		probably null	Het
Nup93	T	A	8: 95,036,339 (GRCm39)		probably null	Het
Or1e1f	T	C	11: 73,856,388 (GRCm39)		probably benign	Het
Papola	A	T	12: 105,795,381 (GRCm39)	T611S	probably benign	Het
Pik3ca	C	A	3: 32,491,963 (GRCm39)		probably null	Het
Pklr	T	C	3: 89,050,036 (GRCm39)	V337A	probably benign	Het
Prl7b1	A	G	13: 27,785,964 (GRCm39)	Y235H	probably benign	Het
Proc	T	C	18: 32,256,326 (GRCm39)	Y447C	possibly damaging	Het
Pum1	T	C	4: 130,470,992 (GRCm39)		probably benign	Het
Rimklb	A	T	6: 122,441,077 (GRCm39)	I32N	probably damaging	Het
Rrm1	T	A	7: 102,114,951 (GRCm39)	D644E	possibly damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Shbg	A	G	11: 69,505,925 (GRCm39)	S361P	probably damaging	Het
Trmt9b	A	C	8: 36,972,823 (GRCm39)	D91A	probably damaging	Het
Zfp647	T	A	15: 76,795,568 (GRCm39)	H364L	probably damaging	Het
Zfp715	A	T	7: 42,949,160 (GRCm39)	S267T	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
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
R2092:Edc4	UTSW	8	106,614,160 (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

Posted On

2016-08-02