Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Dedd'

589736

Institutional Source

Beutler Lab

Gene Symbol

Dedd

Ensembl Gene

ENSMUSG00000013973

Gene Name

death effector domain-containing

Synonyms

DEFT, CASP8IP1, KE05, FLDED1, Dedpro1

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.407) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171329145-171342331 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 171338910 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 138 (P138L)

Ref Sequence

ENSEMBL: ENSMUSP00000068419 (fasta)

Gene Model

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

AlphaFold

Q9Z1L3

Predicted Effect

probably benign
Transcript: ENSMUST00000064950
AA Change: P138L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068419
Gene: ENSMUSG00000013973
AA Change: P138L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097467
AA Change: P138L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095075
Gene: ENSMUSG00000013973
AA Change: P138L

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: P138L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106930
Gene: ENSMUSG00000013973
AA Change: P138L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111300
AA Change: P138L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106931
Gene: ENSMUSG00000013973
AA Change: P138L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127830
AA Change: P138L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122628
Gene: ENSMUSG00000013973
AA Change: P138L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129116
AA Change: P138L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120278
Gene: ENSMUSG00000013973
AA Change: P138L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135150

Predicted Effect

probably benign
Transcript: ENSMUST00000142063
AA Change: P138L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120861
Gene: ENSMUSG00000013973
AA Change: P138L

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

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

Coding Region Coverage

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

Validation Efficiency

100% (52/52)

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
4930504O13Rik	C	A	11: 58,447,478	M29I	probably benign	Het
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Acaca	A	G	11: 84,372,639	I2029V	probably benign	Het
Anks1b	A	C	10: 90,948,584	D1138A	probably damaging	Het
Atr	T	A	9: 95,947,118	V2508E	probably damaging	Het
C4b	C	T	17: 34,729,399		probably null	Het
C530008M17Rik	A	G	5: 76,857,520	E576G	unknown	Het
Cd46	A	T	1: 195,083,619	M146K	probably null	Het
Chp1	A	G	2: 119,560,745	I28V	probably benign	Het
Chrnb1	T	A	11: 69,792,873	R216W	probably damaging	Het
Clmn	G	A	12: 104,782,112	T392M	probably benign	Het
Dcxr	A	C	11: 120,726,453	L88R	probably benign	Het
Degs1	A	G	1: 182,279,698	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,815,780	D851G	possibly damaging	Het
Fam117b	A	G	1: 59,981,534	D521G	probably damaging	Het
Fam26d	G	A	10: 34,043,908	T121M	possibly damaging	Het
Gm14085	A	T	2: 122,486,680	R7S	probably null	Het
Gm21731	G	A	13: 120,240,840	W57*	probably null	Het
Gm6882	A	G	7: 21,427,652	V97A	probably damaging	Het
Hgs	A	T	11: 120,474,302	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,346,662	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,341,399		probably benign	Het
Ikbkb	T	C	8: 22,671,741	N377S	probably benign	Het
Intu	G	A	3: 40,654,253	G232S	probably damaging	Het
Mov10	A	G	3: 104,797,065	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,447,583	F194L	probably benign	Het
Notch3	A	T	17: 32,158,622	I160K	probably benign	Het
Nup155	C	G	15: 8,109,453	S3W	probably damaging	Het
Olfr1287	A	G	2: 111,449,622	I161V	probably benign	Het
Olfr284	A	G	15: 98,340,086	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,956,151	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,552,436	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,980,654	A200V	probably damaging	Het
Qrich2	A	T	11: 116,456,629	I1123K	unknown	Het
Rgs1	A	G	1: 144,248,477		probably null	Het
Skint7	T	A	4: 111,984,140	V259E	probably benign	Het
Slc25a3	A	T	10: 91,118,042		probably null	Het
Slco1a6	A	T	6: 142,145,755	I73N	probably damaging	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Spock2	G	A	10: 60,126,180	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,367,838	R185S	probably damaging	Het
Supt16	A	G	14: 52,197,099	Y18H	probably benign	Het
Synpo	G	A	18: 60,603,428	T482I	probably damaging	Het
Tmc6	G	T	11: 117,769,220	T694K	probably benign	Het
Trim59	T	A	3: 69,037,926	H27L	probably damaging	Het
Trpv2	G	A	11: 62,591,006		probably null	Het
Tyw5	A	T	1: 57,393,485	D117E	probably benign	Het
Usp17la	T	C	7: 104,861,147	Y320H	probably damaging	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,843,023	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,425,089	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,318,996	N29S	probably benign	Het
Zfp954	A	T	7: 7,115,824	F240L	possibly damaging	Het

Other mutations in Dedd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03105:Dedd	APN	1	171,340,918 (GRCm38)	missense	probably damaging	1.00
Ceased	UTSW	1	171,338,841 (GRCm38)	missense	probably damaging	0.96
Mort	UTSW	1	171,338,494 (GRCm38)	missense	probably benign	0.00
R0512:Dedd	UTSW	1	171,340,930 (GRCm38)	missense	probably damaging	1.00
R1225:Dedd	UTSW	1	171,340,295 (GRCm38)	splice site	probably null
R3815:Dedd	UTSW	1	171,338,901 (GRCm38)	missense	probably benign	0.11
R5386:Dedd	UTSW	1	171,338,383 (GRCm38)	missense	probably damaging	1.00
R6376:Dedd	UTSW	1	171,340,222 (GRCm38)	missense	probably benign	0.00
R7475:Dedd	UTSW	1	171,340,313 (GRCm38)	missense	probably benign	0.37
R7806:Dedd	UTSW	1	171,338,494 (GRCm38)	missense	probably benign	0.00
R9074:Dedd	UTSW	1	171,340,320 (GRCm38)	unclassified	probably benign
R9104:Dedd	UTSW	1	171,341,004 (GRCm38)	missense	probably damaging	1.00
R9127:Dedd	UTSW	1	171,338,841 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTCTTGACCTGGGGAATACC -3'
(R):5'- ACCTGCTTTATGTGTGTACATGTTC -3'

Sequencing Primer
(F):5'- TACCTAGGAGAACAGAGATCCTTTG -3'
(R):5'- CACAGGTCTTCATGAGTATGCAGC -3'

Posted On

2019-10-24