Mutagenetix > Incidental Mutation

Incidental Mutation 'R9051:Edc4'

688377

Institutional Source

Beutler Lab

Gene Symbol

Edc4

Ensembl Gene

ENSMUSG00000036270

Gene Name

enhancer of mRNA decapping 4

Synonyms

MMRRC Submission

068877-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9051 (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 A at 106613833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 391 (L391Q)

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: L391Q

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

SMART Domains

Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: L391Q

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: L391Q

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

SMART Domains

Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: L391Q

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,285,232 (GRCm39)	T3289S	probably damaging	Het
Actr1b	G	T	1: 36,740,534 (GRCm39)	Q240K	probably benign	Het
Adamts19	T	C	18: 59,034,048 (GRCm39)	V341A	probably damaging	Het
Akirin2	C	A	4: 34,551,148 (GRCm39)	S35*	probably null	Het
Alg3	G	T	16: 20,427,765 (GRCm39)	Q90K	probably benign	Het
Alox12	C	T	11: 70,138,153 (GRCm39)	R394H	possibly damaging	Het
Ankrd17	A	C	5: 90,411,134 (GRCm39)	M1387R	probably damaging	Het
Anp32b	T	G	4: 46,468,592 (GRCm39)	F121V	possibly damaging	Het
Atp2b2	A	G	6: 113,740,566 (GRCm39)	V815A	probably damaging	Het
Atxn7l1	T	C	12: 33,417,420 (GRCm39)	L527S	probably benign	Het
B9d2	C	T	7: 25,385,462 (GRCm39)	L91F	possibly damaging	Het
Bcl2l11	T	A	2: 128,000,221 (GRCm39)	I188N	probably damaging	Het
Bnc2	A	C	4: 84,210,138 (GRCm39)	S744A	probably benign	Het
Casr	T	G	16: 36,330,414 (GRCm39)	M307L	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cd109	TTATA	TTATATATA	9: 78,619,813 (GRCm39)		probably benign	Het
Cd22	A	G	7: 30,575,449 (GRCm39)	S198P	probably benign	Het
Cd37	C	A	7: 44,886,622 (GRCm39)	V99L	probably benign	Het
Cdkn1c	A	G	7: 143,013,964 (GRCm39)	S161P	possibly damaging	Het
Chi3l1	G	T	1: 134,111,919 (GRCm39)		probably null	Het
Col4a2	T	C	8: 11,498,198 (GRCm39)	F1669S	probably damaging	Het
Dchs2	A	T	3: 83,261,493 (GRCm39)	H2587L	probably benign	Het
Ddx19a	A	T	8: 111,710,228 (GRCm39)	M124K	probably benign	Het
Dnhd1	A	T	7: 105,341,933 (GRCm39)	H1244L	possibly damaging	Het
Dnpep	G	A	1: 75,292,329 (GRCm39)	P165L	probably damaging	Het
Dpp3	T	C	19: 4,973,172 (GRCm39)	R141G	probably benign	Het
Dpysl3	T	C	18: 43,462,814 (GRCm39)	D521G	probably damaging	Het
Dusp4	T	A	8: 35,284,345 (GRCm39)	M220K	probably damaging	Het
Duxf4	G	A	10: 58,071,711 (GRCm39)	P168S	probably damaging	Het
Edrf1	A	C	7: 133,273,207 (GRCm39)	I1221L	probably benign	Het
Elavl2	A	G	4: 91,199,847 (GRCm39)	L12P	probably benign	Het
Fastkd3	T	A	13: 68,733,071 (GRCm39)	V464D	probably damaging	Het
Flt4	C	A	11: 49,527,598 (GRCm39)	N920K	probably benign	Het
Gimap3	T	C	6: 48,742,259 (GRCm39)	T224A	probably benign	Het
Gm9772	T	A	17: 22,225,565 (GRCm39)	K112*	probably null	Het
Gp5	C	A	16: 30,127,976 (GRCm39)	V233L		Het
Gpr25	A	T	1: 136,188,026 (GRCm39)	W196R	probably benign	Het
Hs3st4	G	A	7: 123,582,680 (GRCm39)	G93S	probably damaging	Het
Igsf10	A	G	3: 59,236,668 (GRCm39)	L1171S	probably benign	Het
Itgb7	C	T	15: 102,126,359 (GRCm39)	G526S	possibly damaging	Het
Kcnh8	G	A	17: 53,141,642 (GRCm39)	C295Y	probably damaging	Het
Klhl8	A	G	5: 104,015,709 (GRCm39)		probably null	Het
Krt1c	T	A	15: 101,726,317 (GRCm39)	I74F	unknown	Het
Lamp5	G	T	2: 135,911,054 (GRCm39)	M262I	probably benign	Het
Lrp5	G	T	19: 3,680,156 (GRCm39)	R443S	possibly damaging	Het
Lrrc66	G	T	5: 73,765,267 (GRCm39)	A592E	probably benign	Het
Lrrc66	C	T	5: 73,765,268 (GRCm39)	A592T	probably benign	Het
Mettl23	T	A	11: 116,744,865 (GRCm39)	V93D	unknown	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mkrn2os	G	A	6: 115,562,325 (GRCm39)	R213W	probably benign	Het
Mrps36	T	A	13: 100,877,715 (GRCm39)	I22L	probably damaging	Het
Msantd5f4	A	G	4: 73,557,185 (GRCm39)	N6S	possibly damaging	Het
Myocd	T	C	11: 65,077,795 (GRCm39)	R667G	probably benign	Het
Ncapg	T	A	5: 45,853,140 (GRCm39)	L869M	probably damaging	Het
Ndst3	T	C	3: 123,465,549 (GRCm39)	N141S	probably benign	Het
Neu2	A	T	1: 87,524,965 (GRCm39)	R317*	probably null	Het
Nf1	G	T	11: 79,364,168 (GRCm39)	V1533F	probably damaging	Het
Npy4r	T	A	14: 33,869,083 (GRCm39)	R68S	possibly damaging	Het
Nr1h5	T	C	3: 102,853,427 (GRCm39)	H360R	probably null	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or4f14c	T	C	2: 111,941,441 (GRCm39)	D52G	probably damaging	Het
Or9s15	T	C	1: 92,524,978 (GRCm39)	S246P	probably damaging	Het
Osmr	A	C	15: 6,882,027 (GRCm39)	V39G	probably damaging	Het
Plekhm2	T	C	4: 141,359,732 (GRCm39)	D345G	possibly damaging	Het
Prkaa2	G	T	4: 104,906,600 (GRCm39)	S165*	probably null	Het
Qser1	A	T	2: 104,593,292 (GRCm39)	F1575Y	possibly damaging	Het
Rasl11a	C	A	5: 146,782,107 (GRCm39)	D27E	probably benign	Het
Ret	A	T	6: 118,142,888 (GRCm39)	Y929*	probably null	Het
Samd9l	T	A	6: 3,373,493 (GRCm39)	E1256V	probably benign	Het
Scnn1g	A	G	7: 121,341,566 (GRCm39)	I243V	possibly damaging	Het
Slc6a3	C	T	13: 73,718,031 (GRCm39)	R514*	probably null	Het
Sorcs3	C	T	19: 48,194,809 (GRCm39)	A64V	probably benign	Het
Sos1	G	T	17: 80,715,723 (GRCm39)	N1011K	probably benign	Het
Srbd1	C	A	17: 86,428,115 (GRCm39)	A373S	possibly damaging	Het
Tas1r1	C	T	4: 152,122,833 (GRCm39)	W4*	probably null	Het
Tcf15	C	T	2: 151,985,690 (GRCm39)	R49C	probably damaging	Het
Tex30	A	G	1: 44,127,136 (GRCm39)	V124A	possibly damaging	Het
Tgif1	T	C	17: 71,151,882 (GRCm39)	D243G		Het
Tgtp1	T	G	11: 48,877,916 (GRCm39)	D263A	probably damaging	Het
Themis3	T	A	17: 66,862,864 (GRCm39)	T365S	probably benign	Het
Thoc2l	C	A	5: 104,666,818 (GRCm39)	P447T	probably benign	Het
Tprg1	A	T	16: 25,231,662 (GRCm39)	I213F	probably damaging	Het
Traf4	A	T	11: 78,052,005 (GRCm39)	C160S	probably damaging	Het
Trio	T	C	15: 27,732,770 (GRCm39)	E3037G	possibly damaging	Het
Ttbk2	G	T	2: 120,575,911 (GRCm39)	S1022*	probably null	Het
Ttc6	T	C	12: 57,783,949 (GRCm39)	Y1803H	probably damaging	Het
Ttn	A	C	2: 76,549,452 (GRCm39)	Y31742D	probably benign	Het
Ttn	G	T	2: 76,617,595 (GRCm39)	P16292Q	probably damaging	Het
Ubr5	A	G	15: 38,002,503 (GRCm39)	V1510A		Het
Vac14	A	G	8: 111,379,869 (GRCm39)	D389G	probably benign	Het
Vwa8	A	G	14: 79,324,150 (GRCm39)	D1151G	probably benign	Het
Zfp608	T	C	18: 55,032,266 (GRCm39)	N558S	probably damaging	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
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
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'- GCATGAATGGAAGCCTCATG -3'
(R):5'- TGCTGAGAGGTCCAAACAAAC -3'

Sequencing Primer
(F):5'- GCCTCCTGTTCTGTGATAACCATAAG -3'
(R):5'- TCCAAACAAACTTTGAGGCTGG -3'

Posted On

2021-11-19