Mutagenetix > Incidental Mutation

Incidental Mutation 'R8388:Edc4'

647244

Institutional Source

Beutler Lab

Gene Symbol

Edc4

Ensembl Gene

ENSMUSG00000036270

Gene Name

enhancer of mRNA decapping 4

Synonyms

MMRRC Submission

067753-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8388 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106607506-106619857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106614139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 430 (V430A)

Ref Sequence

ENSEMBL: ENSMUSP00000039134 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040254
AA Change: V430A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: V430A

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 damaging
Transcript: ENSMUST00000119261
AA Change: V430A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: V430A

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

SMART Domains

Protein: ENSMUSP00000114209
Gene: ENSMUSG00000036270
AA Change: V9A

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 damaging
Transcript: ENSMUST00000136048
AA Change: V370A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: V370A

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

probably damaging
Transcript: ENSMUST00000145618
AA Change: V5A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118162
Gene: ENSMUSG00000036270
AA Change: V5A

Domain	Start	End	E-Value	Type
low complexity region	185	220	N/A	INTRINSIC
low complexity region	240	261	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,209,888 (GRCm39)	Y173N	probably damaging	Het
A2ml1	T	C	6: 128,548,937 (GRCm39)	T282A	probably benign	Het
Adamdec1	A	T	14: 68,810,684 (GRCm39)	Y157*	probably null	Het
Adgre5	A	G	8: 84,456,815 (GRCm39)	Y189H	probably damaging	Het
Alg11	G	A	8: 22,552,050 (GRCm39)	V65I	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Camk2b	C	T	11: 5,939,026 (GRCm39)	V278M	probably damaging	Het
Ccdc57	G	A	11: 120,717,744 (GRCm39)	P950L	probably benign	Het
Cep68	A	T	11: 20,180,582 (GRCm39)	V683D	probably damaging	Het
Chd6	A	T	2: 160,861,571 (GRCm39)	I493N	probably damaging	Het
Cyfip1	A	G	7: 55,521,873 (GRCm39)	Y59C	probably damaging	Het
Dclk3	A	G	9: 111,311,813 (GRCm39)	E685G	probably damaging	Het
Edaradd	A	T	13: 12,498,484 (GRCm39)	S78T	probably benign	Het
Efr3a	T	C	15: 65,738,671 (GRCm39)	S767P	probably benign	Het
Enkd1	T	C	8: 106,431,025 (GRCm39)	Q234R	probably damaging	Het
Ercc6	ACGGTACCG	ACGGTACCGGTACCG	14: 32,292,297 (GRCm39)		probably benign	Het
Hipk2	T	A	6: 38,722,630 (GRCm39)	Y468F	probably damaging	Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Kcna5	A	G	6: 126,511,588 (GRCm39)	V180A	probably benign	Het
Kcnb1	T	C	2: 166,947,217 (GRCm39)	I544V	probably benign	Het
Kif21a	A	G	15: 90,843,327 (GRCm39)	S1119P	possibly damaging	Het
Klk13	T	C	7: 43,373,235 (GRCm39)	C190R	probably damaging	Het
Mga	T	C	2: 119,794,562 (GRCm39)	S2749P	probably benign	Het
Mpeg1	T	C	19: 12,440,278 (GRCm39)	S579P	probably damaging	Het
Msh3	A	T	13: 92,359,784 (GRCm39)	I903K	probably damaging	Het
Or4s2	T	A	2: 88,473,305 (GRCm39)	S65T	probably damaging	Het
Ptx4	T	C	17: 25,339,897 (GRCm39)	S25P	probably damaging	Het
Sipa1l1	G	T	12: 82,216,259 (GRCm39)		probably benign	Het
Slfn9	G	C	11: 82,878,112 (GRCm39)	T339R	probably benign	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
Tex15	A	G	8: 34,065,237 (GRCm39)	I1556V	probably benign	Het
Ttc14	A	G	3: 33,854,735 (GRCm39)	N21D	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
IGL03401:Edc4	APN	8	106,614,146 (GRCm39)	nonsense	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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGCTCAGTGAGTGTGCC -3'
(R):5'- AACGTATAATCCTGCCCCTGGG -3'

Sequencing Primer
(F):5'- TCAGTGAGTGTGCCTCCCAG -3'
(R):5'- TGGGCAACTCACCGGTC -3'

Posted On

2020-09-02