Mutagenetix > Incidental Mutation

Incidental Mutation 'R9147:Edc4'

694712

Institutional Source

Beutler Lab

Gene Symbol

Edc4

Ensembl Gene

ENSMUSG00000036270

Gene Name

enhancer of mRNA decapping 4

Synonyms

MMRRC Submission

068936-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9147 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106607506-106619857 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106612478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 172 (L172P)

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: L172P

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

SMART Domains

Protein: ENSMUSP00000039134
Gene: ENSMUSG00000036270
AA Change: L172P

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: L172P

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

SMART Domains

Protein: ENSMUSP00000113854
Gene: ENSMUSG00000036270
AA Change: L172P

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 damaging
Transcript: ENSMUST00000136048
AA Change: L172P

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

SMART Domains

Protein: ENSMUSP00000114285
Gene: ENSMUSG00000036270
AA Change: L172P

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

Meta Mutation Damage Score

0.9634

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (93/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,777,345 (GRCm39)	I102N	probably damaging	Het
2610008E11Rik	A	T	10: 78,903,406 (GRCm39)	C303*	probably null	Het
A430033K04Rik	T	A	5: 138,644,547 (GRCm39)	V144D	possibly damaging	Het
Adamts13	T	A	2: 26,883,024 (GRCm39)	M858K	probably benign	Het
Ankrd29	T	C	18: 12,408,760 (GRCm39)		probably benign	Het
Apc	T	A	18: 34,450,710 (GRCm39)	S2535R	probably damaging	Het
C1s1	T	C	6: 124,517,758 (GRCm39)	D74G	probably damaging	Het
Cacnb2	G	A	2: 14,972,773 (GRCm39)	G227S	possibly damaging	Het
Cbs	T	C	17: 31,844,889 (GRCm39)	D137G	probably damaging	Het
Ccdc136	A	G	6: 29,418,070 (GRCm39)	E846G	probably damaging	Het
Cd6	A	T	19: 10,776,855 (GRCm39)	S57T	probably benign	Het
Col11a2	T	A	17: 34,273,119 (GRCm39)		probably benign	Het
Ctsj	T	C	13: 61,149,249 (GRCm39)	Y264C	probably damaging	Het
Dennd3	T	A	15: 73,429,463 (GRCm39)	N915K	probably damaging	Het
Dst	T	C	1: 34,228,149 (GRCm39)	L1914P	probably damaging	Het
E2f2	A	T	4: 135,908,595 (GRCm39)		probably null	Het
Epb41l5	A	T	1: 119,570,319 (GRCm39)	L23H	probably damaging	Het
Fbxo2	A	G	4: 148,250,166 (GRCm39)	E232G	probably damaging	Het
Fmn1	A	C	2: 113,271,973 (GRCm39)	N114H	unknown	Het
Foxj1	T	G	11: 116,225,236 (GRCm39)	I44L	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Foxp2	A	T	6: 15,286,711 (GRCm39)	Q67L	possibly damaging	Het
Fuz	C	T	7: 44,549,710 (GRCm39)	P396L	probably damaging	Het
Galntl5	A	T	5: 25,415,353 (GRCm39)	I295L	possibly damaging	Het
Gjd4	T	A	18: 9,280,095 (GRCm39)	T328S	probably benign	Het
Gramd1a	A	T	7: 30,837,606 (GRCm39)		probably benign	Het
Gzmb	T	C	14: 56,496,964 (GRCm39)	Y219C	possibly damaging	Het
Hs3st5	A	T	10: 36,708,917 (GRCm39)	I151F	probably damaging	Het
Hspa12a	T	G	19: 58,793,890 (GRCm39)	T324P	probably damaging	Het
Ighv4-1	A	T	12: 113,912,000 (GRCm39)	D84E	possibly damaging	Het
Il31ra	C	T	13: 112,670,276 (GRCm39)	E371K	probably benign	Het
Imp4	G	T	1: 34,482,473 (GRCm39)	V71L	probably benign	Het
Itgax	A	G	7: 127,747,913 (GRCm39)	T1068A	possibly damaging	Het
Klhl24	C	T	16: 19,936,690 (GRCm39)	R433C	probably damaging	Het
Larp4b	C	A	13: 9,186,819 (GRCm39)	P49Q	possibly damaging	Het
Macc1	T	C	12: 119,414,091 (GRCm39)	S756P	possibly damaging	Het
Mael	A	G	1: 166,029,259 (GRCm39)	V388A	probably benign	Het
Megf6	A	G	4: 154,339,130 (GRCm39)	T556A	probably benign	Het
Mettl6	T	C	14: 31,204,855 (GRCm39)	D189G	probably damaging	Het
Moxd2	C	A	6: 40,860,978 (GRCm39)	C271F	probably damaging	Het
Ncor1	A	T	11: 62,224,672 (GRCm39)	Y863N	probably damaging	Het
Ndst4	C	T	3: 125,231,722 (GRCm39)	A97V	probably damaging	Het
Nherf4	A	G	9: 44,160,676 (GRCm39)	C240R	probably damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup160	A	G	2: 90,533,489 (GRCm39)	D646G	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or1j19	A	G	2: 36,676,938 (GRCm39)	T134A	probably benign	Het
Or1p1	A	C	11: 74,180,169 (GRCm39)	Q232H	probably damaging	Het
Or5c1	T	C	2: 37,222,017 (GRCm39)	L86P	possibly damaging	Het
Or7h8	T	A	9: 20,124,358 (GRCm39)	F238I	probably damaging	Het
Or8k24	A	G	2: 86,216,324 (GRCm39)	V146A	probably benign	Het
Pabpc6	C	T	17: 9,886,937 (GRCm39)	S538N	probably benign	Het
Pcdhga1	C	A	18: 37,796,433 (GRCm39)	A479D	possibly damaging	Het
Pdgfd	A	T	9: 6,333,328 (GRCm39)	D172V	probably benign	Het
Pfpl	A	T	19: 12,405,804 (GRCm39)	E18D	possibly damaging	Het
Pih1d2	T	A	9: 50,532,321 (GRCm39)	D126E	possibly damaging	Het
Ppp1r13b	T	C	12: 111,800,268 (GRCm39)	H626R	probably benign	Het
Ppp6r3	A	T	19: 3,543,974 (GRCm39)	V347D	probably damaging	Het
Ptpra	T	A	2: 30,328,255 (GRCm39)	M192K	probably damaging	Het
Ptpra	G	T	2: 30,328,256 (GRCm39)	M192I	probably benign	Het
Ptprj	G	A	2: 90,288,562 (GRCm39)	S801L	probably benign	Het
Rasd2	C	T	8: 75,948,847 (GRCm39)	R258*	probably null	Het
Rfx3	A	T	19: 27,878,207 (GRCm39)	V30E	possibly damaging	Het
Rgs2	A	G	1: 143,877,925 (GRCm39)	S124P	probably damaging	Het
Ros1	A	G	10: 51,927,039 (GRCm39)	F2215L	probably benign	Het
Rph3a	T	C	5: 121,086,880 (GRCm39)	N440S	possibly damaging	Het
Sacs	T	C	14: 61,450,137 (GRCm39)	V4061A	possibly damaging	Het
Scgb1b3	G	A	7: 31,075,051 (GRCm39)	V7M	unknown	Het
Scn7a	T	C	2: 66,514,507 (GRCm39)	D1089G	possibly damaging	Het
Sdk2	C	T	11: 113,714,226 (GRCm39)	R1582Q	probably benign	Het
Sdr16c5	T	C	4: 3,996,200 (GRCm39)	M298V	probably benign	Het
Sebox	A	G	11: 78,395,222 (GRCm39)	D188G	possibly damaging	Het
Serpinf2	A	T	11: 75,323,418 (GRCm39)	F429L	probably damaging	Het
Six4	A	C	12: 73,155,681 (GRCm39)	S429A	probably benign	Het
Slc2a10	A	T	2: 165,357,543 (GRCm39)	H401L	possibly damaging	Het
Ssbp2	T	C	13: 91,842,141 (GRCm39)	S321P	probably damaging	Het
Syne2	A	G	12: 75,937,158 (GRCm39)	E252G	probably damaging	Het
Synj2	T	C	17: 6,084,172 (GRCm39)	I1178T	probably damaging	Het
Tafa5	T	C	15: 87,428,775 (GRCm39)	I28T	probably benign	Het
Tbc1d10a	G	T	11: 4,136,835 (GRCm39)	R16L	unknown	Het
Tmem132b	C	A	5: 125,864,167 (GRCm39)	Q758K	probably damaging	Het
Tnrc6a	T	G	7: 122,785,667 (GRCm39)		probably benign	Het
Tril	A	G	6: 53,795,137 (GRCm39)	L695P	probably damaging	Het
Tspan3	A	T	9: 56,043,960 (GRCm39)	Y243*	probably null	Het
Ufl1	A	T	4: 25,278,712 (GRCm39)		probably benign	Het
Utp4	A	T	8: 107,621,310 (GRCm39)	N29I	possibly damaging	Het
Vmn1r176	C	T	7: 23,534,785 (GRCm39)	G123S	probably benign	Het
Vmn1r225	T	A	17: 20,722,577 (GRCm39)	M6K	possibly damaging	Het
Vmn1r229	T	C	17: 21,034,758 (GRCm39)	M1T	probably null	Het
Vmn2r80	A	T	10: 79,030,687 (GRCm39)	I838F	probably damaging	Het
Vmn2r98	T	A	17: 19,286,383 (GRCm39)	W294R	probably benign	Het
Wnk1	A	G	6: 119,925,631 (GRCm39)	S1527P	unknown	Het
Zdhhc17	A	T	10: 110,785,503 (GRCm39)	S436R	possibly damaging	Het
Zfp12	T	C	5: 143,230,389 (GRCm39)	S271P	probably damaging	Het
Zfp330	T	C	8: 83,491,063 (GRCm39)	Y249C		Het
Zfp444	A	G	7: 6,192,678 (GRCm39)	H232R	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
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
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'- GTAGAGGTTTCAGGCTTCCC -3'
(R):5'- ACCCAACTCTGCCGTTTTAG -3'

Sequencing Primer
(F):5'- TGACATCTCCCAGGGTTGG -3'
(R):5'- TTTAGTCCCCTGGCCTGGG -3'

Posted On

2022-01-20