Mutagenetix > Incidental Mutation

Incidental Mutation 'R4819:Edc3'

370057

Institutional Source

Beutler Lab

Gene Symbol

Edc3

Ensembl Gene

ENSMUSG00000038957

Gene Name

enhancer of mRNA decapping 3

Synonyms

Lsm16, Yjdc

MMRRC Submission

042000-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57615823-57659782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57655680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 477 (C477S)

Ref Sequence

ENSEMBL: ENSMUSP00000049146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043990] [ENSMUST00000065330] [ENSMUST00000137245]

AlphaFold

Q8K2D3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043990
AA Change: C477S

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049146
Gene: ENSMUSG00000038957
AA Change: C477S

Domain	Start	End	E-Value	Type
LSM14	1	80	9.12e-20	SMART
Pfam:Edc3_linker	102	197	1.9e-47	PFAM
FDF	198	301	1.84e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065330

SMART Domains

Protein: ENSMUSP00000067341
Gene: ENSMUSG00000032316

Domain	Start	End	E-Value	Type
low complexity region	57	73	N/A	INTRINSIC
low complexity region	122	147	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
low complexity region	181	199	N/A	INTRINSIC
low complexity region	234	252	N/A	INTRINSIC
low complexity region	261	283	N/A	INTRINSIC
S_TKc	304	620	5.56e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137245

SMART Domains

Protein: ENSMUSP00000123317
Gene: ENSMUSG00000038957

Domain	Start	End	E-Value	Type
Pfam:LSM14	1	56	3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215109

Predicted Effect

probably benign
Transcript: ENSMUST00000215233

Predicted Effect

probably benign
Transcript: ENSMUST00000215333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216095

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EDC3 is associated with an mRNA-decapping complex required for removal of the 5-prime cap from mRNA prior to its degradation from the 5-prime end (Fenger-Gron et al., 2005 [PubMed 16364915]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,240,421 (GRCm39)	N761K	possibly damaging	Het
Adgrf3	T	A	5: 30,403,442 (GRCm39)	L444F	possibly damaging	Het
Akap8	G	A	17: 32,531,279 (GRCm39)	R378W	probably damaging	Het
Amotl2	C	T	9: 102,607,270 (GRCm39)	R693W	probably damaging	Het
As3mt	G	T	19: 46,695,968 (GRCm39)		probably benign	Het
Atp6v1e2	A	G	17: 87,251,966 (GRCm39)	V144A	probably benign	Het
Bfar	C	T	16: 13,505,331 (GRCm39)	Q114*	probably null	Het
Casd1	C	T	6: 4,621,225 (GRCm39)	A261V	probably damaging	Het
Cd177	A	T	7: 24,451,696 (GRCm39)	I440K	probably damaging	Het
Cfap54	G	T	10: 92,672,339 (GRCm39)	Y2910*	probably null	Het
Csl	A	G	10: 99,593,944 (GRCm39)	F374L	possibly damaging	Het
Dctn1	G	A	6: 83,167,501 (GRCm39)	R275H	probably damaging	Het
Derl3	A	G	10: 75,729,713 (GRCm39)		probably null	Het
Dst	A	G	1: 34,007,916 (GRCm39)	I117V	probably benign	Het
Efs	T	C	14: 55,154,610 (GRCm39)	E450G	probably damaging	Het
Fcrla	T	A	1: 170,748,508 (GRCm39)	I212F	probably damaging	Het
Fsip2	A	G	2: 82,818,786 (GRCm39)	I4840V	probably benign	Het
Gpam	T	A	19: 55,066,773 (GRCm39)	I581F	probably benign	Het
Greb1l	A	G	18: 10,458,358 (GRCm39)	D45G	probably damaging	Het
Heca	A	G	10: 17,783,820 (GRCm39)	Y478H	probably damaging	Het
Hspa9	C	T	18: 35,072,441 (GRCm39)	M561I	probably damaging	Het
Hyal6	T	A	6: 24,734,965 (GRCm39)	Y299*	probably null	Het
Iho1	A	G	9: 108,283,877 (GRCm39)	V189A	probably benign	Het
Ik	T	A	18: 36,886,310 (GRCm39)		probably null	Het
Khsrp	A	G	17: 57,330,360 (GRCm39)	S582P	possibly damaging	Het
Kif18a	A	G	2: 109,122,471 (GRCm39)	D182G	probably damaging	Het
Krt1c	T	C	15: 101,719,979 (GRCm39)	T564A	unknown	Het
Lig4	A	G	8: 10,021,885 (GRCm39)	S632P	probably benign	Het
Med1	C	T	11: 98,046,258 (GRCm39)		probably benign	Het
Mgat3	T	A	15: 80,096,550 (GRCm39)	I459N	probably damaging	Het
Mkln1	A	T	6: 31,451,421 (GRCm39)	Q454L	probably benign	Het
Mn1	A	G	5: 111,567,803 (GRCm39)	E591G	possibly damaging	Het
Myo5c	T	A	9: 75,199,484 (GRCm39)	L1364Q	probably damaging	Het
Oas1d	T	C	5: 121,053,780 (GRCm39)	V80A	probably damaging	Het
Obscn	A	T	11: 58,929,674 (GRCm39)	D5180E	probably damaging	Het
Pax6	G	A	2: 105,522,622 (GRCm39)		probably null	Het
Pcdh15	A	C	10: 74,160,221 (GRCm39)	N446T	probably damaging	Het
Pcnx2	A	T	8: 126,581,969 (GRCm39)	F922L	probably benign	Het
Ptpn4	G	T	1: 119,587,580 (GRCm39)	T921K	probably benign	Het
Selenov	A	G	7: 27,989,746 (GRCm39)		probably null	Het
Tmem100	A	G	11: 89,926,271 (GRCm39)	T33A	probably benign	Het
Tmem59	C	T	4: 107,044,878 (GRCm39)	Q66*	probably null	Het
Trav21-dv12	T	A	14: 54,114,070 (GRCm39)	Y63*	probably null	Het
Trim66	G	T	7: 109,056,793 (GRCm39)	H1121Q	probably damaging	Het
Trim80	A	G	11: 115,338,769 (GRCm39)	Y533C	probably damaging	Het
Ttc17	G	A	2: 94,194,955 (GRCm39)	P520L	probably damaging	Het
Ttn	A	T	2: 76,622,093 (GRCm39)	V15483E	probably damaging	Het
Vinac1	G	T	2: 128,882,721 (GRCm39)	N98K	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,468,974 (GRCm39)	T3069K	probably benign	Het
Zfp281	A	G	1: 136,553,448 (GRCm39)	H142R	probably benign	Het
Zfp462	G	T	4: 55,060,044 (GRCm39)	R1190L	probably damaging	Het
Zfp935	T	A	13: 62,602,231 (GRCm39)	H323L	probably damaging	Het

Other mutations in Edc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
trojaning	UTSW	9	57,620,711 (GRCm39)	missense	probably damaging	1.00
Trojans	UTSW	9	57,620,829 (GRCm39)	missense	probably damaging	1.00
R0265:Edc3	UTSW	9	57,634,621 (GRCm39)	missense	probably damaging	1.00
R1720:Edc3	UTSW	9	57,655,462 (GRCm39)	splice site	probably null
R1802:Edc3	UTSW	9	57,634,598 (GRCm39)	missense	probably damaging	1.00
R2192:Edc3	UTSW	9	57,620,826 (GRCm39)	missense	probably damaging	1.00
R3911:Edc3	UTSW	9	57,655,686 (GRCm39)	missense	possibly damaging	0.90
R4362:Edc3	UTSW	9	57,620,829 (GRCm39)	missense	probably damaging	1.00
R5841:Edc3	UTSW	9	57,651,885 (GRCm39)	missense	probably benign	0.04
R5969:Edc3	UTSW	9	57,620,711 (GRCm39)	missense	probably damaging	1.00
R6353:Edc3	UTSW	9	57,623,520 (GRCm39)	missense	probably benign	0.00
R7705:Edc3	UTSW	9	57,647,197 (GRCm39)	missense	probably benign	0.36
R8011:Edc3	UTSW	9	57,620,659 (GRCm39)	splice site	probably benign
R8769:Edc3	UTSW	9	57,634,678 (GRCm39)	missense	probably damaging	1.00
R8878:Edc3	UTSW	9	57,623,484 (GRCm39)	missense	possibly damaging	0.86
R9055:Edc3	UTSW	9	57,623,360 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGACCTGGTTATCAACTGCC -3'
(R):5'- AAAGCCTCACATCCTTAAGGCG -3'

Sequencing Primer
(F):5'- ATCAACTGCCTGGATTGTCCTGAG -3'
(R):5'- ATCCTTAAGGCGTCCCATAGTGG -3'

Posted On

2016-02-04