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, Dedpro1, KE05, FLDED1, CASP8IP1

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171156713-171169899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 171166478 bp (GRCm39)

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
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Acaca	A	G	11: 84,263,465 (GRCm39)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,784,446 (GRCm39)	D1138A	probably damaging	Het
Atr	T	A	9: 95,829,171 (GRCm39)	V2508E	probably damaging	Het
C4b	C	T	17: 34,948,373 (GRCm39)		probably null	Het
Calhm4	G	A	10: 33,919,904 (GRCm39)	T121M	possibly damaging	Het
Cd46	A	T	1: 194,765,927 (GRCm39)	M146K	probably null	Het
Chp1	A	G	2: 119,391,226 (GRCm39)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,683,699 (GRCm39)	R216W	probably damaging	Het
Clmn	G	A	12: 104,748,371 (GRCm39)	T392M	probably benign	Het
Cracd	A	G	5: 77,005,367 (GRCm39)	E576G	unknown	Het
Dcxr	A	C	11: 120,617,279 (GRCm39)	L88R	probably benign	Het
Degs1	A	G	1: 182,107,263 (GRCm39)	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,705,792 (GRCm39)	D851G	possibly damaging	Het
Fam117b	A	G	1: 60,020,693 (GRCm39)	D521G	probably damaging	Het
Gm6882	A	G	7: 21,161,577 (GRCm39)	V97A	probably damaging	Het
Hgs	A	T	11: 120,365,128 (GRCm39)	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,296,662 (GRCm39)	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,318,383 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,161,757 (GRCm39)	N377S	probably benign	Het
Intu	G	A	3: 40,608,683 (GRCm39)	G232S	probably damaging	Het
Lypd9	C	A	11: 58,338,304 (GRCm39)	M29I	probably benign	Het
Mov10	A	G	3: 104,704,381 (GRCm39)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,331 (GRCm39)	F194L	probably benign	Het
Notch3	A	T	17: 32,377,596 (GRCm39)	I160K	probably benign	Het
Nup155	C	G	15: 8,138,937 (GRCm39)	S3W	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Or8s5	A	G	15: 98,237,967 (GRCm39)	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,846,977 (GRCm39)	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,106,173 (GRCm39)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,810,999 (GRCm39)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,347,455 (GRCm39)	I1123K	unknown	Het
Rgs1	A	G	1: 144,124,215 (GRCm39)		probably null	Het
Skint7	T	A	4: 111,841,337 (GRCm39)	V259E	probably benign	Het
Slc25a3	A	T	10: 90,953,904 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,317,161 (GRCm39)	R7S	probably null	Het
Slco1a6	A	T	6: 142,091,481 (GRCm39)	I73N	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Spock2	G	A	10: 59,962,002 (GRCm39)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,552,008 (GRCm39)	R185S	probably damaging	Het
Supt16	A	G	14: 52,434,556 (GRCm39)	Y18H	probably benign	Het
Synpo	G	A	18: 60,736,500 (GRCm39)	T482I	probably damaging	Het
Tcstv7b	G	A	13: 120,702,376 (GRCm39)	W57*	probably null	Het
Tmc6	G	T	11: 117,660,046 (GRCm39)	T694K	probably benign	Het
Trim59	T	A	3: 68,945,259 (GRCm39)	H27L	probably damaging	Het
Trpv2	G	A	11: 62,481,832 (GRCm39)		probably null	Het
Tyw5	A	T	1: 57,432,644 (GRCm39)	D117E	probably benign	Het
Usp17la	T	C	7: 104,510,354 (GRCm39)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,542,448 (GRCm39)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,074,513 (GRCm39)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,176,193 (GRCm39)	N29S	probably benign	Het
Zfp954	A	T	7: 7,118,823 (GRCm39)	F240L	possibly damaging	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
R3815:Dedd	UTSW	1	171,166,469 (GRCm39)	missense	probably benign	0.11
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
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'- GTCTTGACCTGGGGAATACC -3'
(R):5'- ACCTGCTTTATGTGTGTACATGTTC -3'

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

Posted On

2019-10-24