Mutagenetix > Incidental Mutation

Incidental Mutation 'R3815:Dedd'

274219

Institutional Source

Beutler Lab

Gene Symbol

Dedd

Ensembl Gene

ENSMUSG00000013973

Gene Name

death effector domain-containing

Synonyms

DEFT, Dedpro1, KE05, FLDED1, CASP8IP1

MMRRC Submission

040770-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R3815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171156713-171169899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171166469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 135 (E135G)

Ref Sequence

ENSEMBL: ENSMUSP00000120861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064950] [ENSMUST00000097467] [ENSMUST00000111289] [ENSMUST00000111295] [ENSMUST00000111296] [ENSMUST00000111299] [ENSMUST00000111300] [ENSMUST00000127830] [ENSMUST00000129116] [ENSMUST00000142063] [ENSMUST00000135150] [ENSMUST00000156856] [ENSMUST00000157015]

AlphaFold

Q9Z1L3

Predicted Effect

probably benign
Transcript: ENSMUST00000064950
AA Change: E135G

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068419
Gene: ENSMUSG00000013973
AA Change: E135G

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097467
AA Change: E135G

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095075
Gene: ENSMUSG00000013973
AA Change: E135G

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111289

SMART Domains

Protein: ENSMUSP00000106920
Gene: ENSMUSG00000013997

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	11	191	1.6e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111295

SMART Domains

Protein: ENSMUSP00000106926
Gene: ENSMUSG00000013997

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	44	224	6.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111296

SMART Domains

Protein: ENSMUSP00000106927
Gene: ENSMUSG00000013997

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	44	224	1.4e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111299
AA Change: E135G

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106930
Gene: ENSMUSG00000013973
AA Change: E135G

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111300
AA Change: E135G

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106931
Gene: ENSMUSG00000013973
AA Change: E135G

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127830
AA Change: E135G

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122628
Gene: ENSMUSG00000013973
AA Change: E135G

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129116
AA Change: E135G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120278
Gene: ENSMUSG00000013973
AA Change: E135G

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142063
AA Change: E135G

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120861
Gene: ENSMUSG00000013973
AA Change: E135G

Domain	Start	End	E-Value	Type
DED	24	103	1.34e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131653

Predicted Effect

probably benign
Transcript: ENSMUST00000135150

Predicted Effect

probably benign
Transcript: ENSMUST00000156856

SMART Domains

Protein: ENSMUSP00000116835
Gene: ENSMUSG00000013997

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	11	131	5.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000157015

Meta Mutation Damage Score

0.0622

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display reduced body size, organ size and organ weight without reductions in cell numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Aldh18a1	A	G	19: 40,558,944 (GRCm39)	S299P	probably damaging	Het
Ankrd6	A	C	4: 32,806,206 (GRCm39)	S618R	probably benign	Het
Apobec3	G	T	15: 79,783,301 (GRCm39)	R126M	possibly damaging	Het
Arl8b	T	A	6: 108,790,658 (GRCm39)	V65D	probably damaging	Het
AW554918	C	T	18: 25,533,104 (GRCm39)	R253C	probably benign	Het
Cd177	A	G	7: 24,453,817 (GRCm39)	V358A	probably benign	Het
Cdca7l	G	A	12: 117,835,948 (GRCm39)	V95I	probably damaging	Het
Ces1e	A	G	8: 93,928,467 (GRCm39)		probably null	Het
Cfap90	A	G	13: 68,759,344 (GRCm39)	H106R	probably damaging	Het
Coq5	T	G	5: 115,433,957 (GRCm39)	F306V	probably damaging	Het
Cpsf1	A	G	15: 76,485,349 (GRCm39)	V501A	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cul5	T	A	9: 53,534,243 (GRCm39)	I630L	probably benign	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Ecel1	A	G	1: 87,080,622 (GRCm39)	F368S	probably damaging	Het
Ext1	A	C	15: 53,208,485 (GRCm39)	I92S	probably benign	Het
Fbxw5	A	T	2: 25,393,576 (GRCm39)	D268V	possibly damaging	Het
Flacc1	T	G	1: 58,698,164 (GRCm39)	N379T	probably damaging	Het
Gen1	A	T	12: 11,302,034 (GRCm39)	V192E	possibly damaging	Het
Gm11077	T	G	6: 140,675,041 (GRCm39)	V11G	unknown	Het
Ift88	A	T	14: 57,678,438 (GRCm39)	E150V	possibly damaging	Het
Kcna1	T	C	6: 126,620,009 (GRCm39)	R104G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krt82	A	G	15: 101,459,035 (GRCm39)	S2P	probably damaging	Het
Luc7l2	T	C	6: 38,547,526 (GRCm39)	S69P	possibly damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Mamstr	G	T	7: 45,293,956 (GRCm39)	R20L	probably damaging	Het
Nav1	C	A	1: 135,398,862 (GRCm39)	K573N	possibly damaging	Het
Or5b104	T	C	19: 13,072,277 (GRCm39)	H245R	probably damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Or8b55	A	G	9: 38,727,722 (GRCm39)	K308E	possibly damaging	Het
Palld	T	A	8: 62,002,871 (GRCm39)		probably benign	Het
Pcdha2	A	G	18: 37,074,748 (GRCm39)	Y793C	probably benign	Het
Pcdhb4	A	T	18: 37,441,065 (GRCm39)	D125V	probably damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,883,359 (GRCm39)	E329V	probably damaging	Het
Rarres1	T	A	3: 67,422,654 (GRCm39)	D32V	probably benign	Het
Rhobtb1	A	G	10: 69,121,523 (GRCm39)	H53R	possibly damaging	Het
Ryr1	A	T	7: 28,772,327 (GRCm39)	S2494T	probably damaging	Het
Sapcd2	G	A	2: 25,263,518 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp1	A	C	15: 97,954,713 (GRCm39)	D490E	probably damaging	Het
Sfrp5	C	T	19: 42,187,230 (GRCm39)	R280H	probably benign	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Skint5	G	A	4: 113,703,496 (GRCm39)	T499I	possibly damaging	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Spire1	G	T	18: 67,639,733 (GRCm39)	T273K	probably benign	Het
Tep1	T	C	14: 51,105,772 (GRCm39)	T83A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttn	T	A	2: 76,552,077 (GRCm39)	R29441*	probably null	Het
Wdr37	A	G	13: 8,903,632 (GRCm39)		probably benign	Het

Other mutations in Dedd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03105:Dedd	APN	1	171,168,486 (GRCm39)	missense	probably damaging	1.00
Ceased	UTSW	1	171,166,409 (GRCm39)	missense	probably damaging	0.96
Mort	UTSW	1	171,166,062 (GRCm39)	missense	probably benign	0.00
R0512:Dedd	UTSW	1	171,168,498 (GRCm39)	missense	probably damaging	1.00
R1225:Dedd	UTSW	1	171,167,863 (GRCm39)	splice site	probably null
R5386:Dedd	UTSW	1	171,165,951 (GRCm39)	missense	probably damaging	1.00
R6376:Dedd	UTSW	1	171,167,790 (GRCm39)	missense	probably benign	0.00
R7475:Dedd	UTSW	1	171,167,881 (GRCm39)	missense	probably benign	0.37
R7633:Dedd	UTSW	1	171,166,478 (GRCm39)	missense	probably benign
R7806:Dedd	UTSW	1	171,166,062 (GRCm39)	missense	probably benign	0.00
R9074:Dedd	UTSW	1	171,167,888 (GRCm39)	unclassified	probably benign
R9104:Dedd	UTSW	1	171,168,572 (GRCm39)	missense	probably damaging	1.00
R9127:Dedd	UTSW	1	171,166,409 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CACGACTAAGAGAAGCTCTGTGG -3'
(R):5'- TGATTGTCTTTAATGGACAGGGAC -3'

Sequencing Primer
(F):5'- TAGTGCAGAGTCTACAGGGC -3'
(R):5'- ACAGGGACTTTAATGTCTTTAATGGG -3'

Posted On

2015-04-02