Mutagenetix > Incidental Mutation

Incidental Mutation 'R6376:Dedd'

514948

Institutional Source

Beutler Lab

Gene Symbol

Dedd

Ensembl Gene

ENSMUSG00000013973

Gene Name

death effector domain-containing

Synonyms

DEFT, Dedpro1, KE05, FLDED1, CASP8IP1

MMRRC Submission

044526-MU

Accession Numbers

Essential gene?

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

Stock #

R6376 (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 171167790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 155 (P155S)

Ref Sequence

ENSEMBL: ENSMUSP00000120278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064950] [ENSMUST00000097467] [ENSMUST00000111289] [ENSMUST00000111295] [ENSMUST00000111296] [ENSMUST00000111299] [ENSMUST00000111300] [ENSMUST00000127830] [ENSMUST00000129116] [ENSMUST00000142063] [ENSMUST00000157015] [ENSMUST00000148339] [ENSMUST00000135150] [ENSMUST00000156856]

AlphaFold

Q9Z1L3

Predicted Effect

probably benign
Transcript: ENSMUST00000064950
AA Change: P155S

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

SMART Domains

Protein: ENSMUSP00000068419
Gene: ENSMUSG00000013973
AA Change: P155S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097467
AA Change: P155S

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

SMART Domains

Protein: ENSMUSP00000095075
Gene: ENSMUSG00000013973
AA Change: P155S

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: P155S

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

SMART Domains

Protein: ENSMUSP00000106930
Gene: ENSMUSG00000013973
AA Change: P155S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111300
AA Change: P155S

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

SMART Domains

Protein: ENSMUSP00000106931
Gene: ENSMUSG00000013973
AA Change: P155S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127830
AA Change: P155S

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

SMART Domains

Protein: ENSMUSP00000122628
Gene: ENSMUSG00000013973
AA Change: P155S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129116
AA Change: P155S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120278
Gene: ENSMUSG00000013973
AA Change: P155S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142063
AA Change: P155S

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

SMART Domains

Protein: ENSMUSP00000120861
Gene: ENSMUSG00000013973
AA Change: P155S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000157015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131653

Predicted Effect

probably benign
Transcript: ENSMUST00000148339

SMART Domains

Protein: ENSMUSP00000119171
Gene: ENSMUSG00000013997

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	11	87	8.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141357

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

noncoding transcript
Transcript: ENSMUST00000146428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136339

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,339,456 (GRCm39)	E106D	probably damaging	Het
A830018L16Rik	A	T	1: 11,868,718 (GRCm39)	N333Y	probably damaging	Het
Abca4	T	A	3: 121,917,309 (GRCm39)	M1007K	possibly damaging	Het
Accsl	T	A	2: 93,687,343 (GRCm39)	I495F	probably damaging	Het
Acsl3	T	C	1: 78,674,182 (GRCm39)	S373P	possibly damaging	Het
Adam7	A	G	14: 68,742,546 (GRCm39)	I689T	possibly damaging	Het
Akap11	G	A	14: 78,752,336 (GRCm39)	T179I	probably damaging	Het
Ankmy1	T	C	1: 92,816,187 (GRCm39)	K309R	possibly damaging	Het
Apaf1	A	T	10: 90,859,673 (GRCm39)	I824N	probably damaging	Het
Apc2	T	A	10: 80,148,488 (GRCm39)	C1152S	probably damaging	Het
Arhgap17	C	A	7: 122,899,727 (GRCm39)	W409L	probably damaging	Het
Arhgef15	T	C	11: 68,845,796 (GRCm39)	I19V	unknown	Het
Arnt	C	A	3: 95,397,936 (GRCm39)	P573H	probably damaging	Het
Arvcf	G	A	16: 18,223,882 (GRCm39)	G932R	probably damaging	Het
Atg4a-ps	C	T	3: 103,553,044 (GRCm39)	W99*	probably null	Het
Atp13a5	T	A	16: 29,056,004 (GRCm39)	D1052V	probably benign	Het
Atp2b4	T	C	1: 133,642,797 (GRCm39)	T1103A	probably damaging	Het
B4galnt4	C	A	7: 140,647,335 (GRCm39)	Q362K	possibly damaging	Het
Cd320	T	A	17: 34,066,491 (GRCm39)	N90K	probably benign	Het
Cep170b	A	T	12: 112,698,502 (GRCm39)	I87F	probably damaging	Het
Coq3	T	G	4: 21,900,486 (GRCm39)	C238G	probably benign	Het
Cpa5	A	T	6: 30,614,044 (GRCm39)	Q62L	probably benign	Het
Ctsg	A	T	14: 56,339,110 (GRCm39)	C49*	probably null	Het
Cul9	T	C	17: 46,819,489 (GRCm39)	T2000A	probably damaging	Het
Dnah1	A	G	14: 30,997,565 (GRCm39)	S2598P	probably damaging	Het
Dnah14	C	T	1: 181,433,459 (GRCm39)	P379S	possibly damaging	Het
Dync2h1	A	T	9: 7,165,703 (GRCm39)	S519R	probably benign	Het
Eea1	A	G	10: 95,874,660 (GRCm39)	S1192G	probably benign	Het
Eif5b	T	C	1: 38,084,760 (GRCm39)	I869T	probably damaging	Het
Elavl4	C	A	4: 110,112,651 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ets2	G	A	16: 95,520,037 (GRCm39)	R421H	probably damaging	Het
Exoc3l2	G	A	7: 19,203,635 (GRCm39)	A76T	possibly damaging	Het
Fam89b	T	C	19: 5,778,757 (GRCm39)	Y144C	probably damaging	Het
Greb1	T	C	12: 16,749,580 (GRCm39)	E1082G	probably damaging	Het
Gtf3a	A	T	5: 146,890,798 (GRCm39)		probably null	Het
Hoxc12	C	A	15: 102,845,524 (GRCm39)	F79L	possibly damaging	Het
Hspb8	G	T	5: 116,547,491 (GRCm39)	L164I	probably damaging	Het
Ina	C	T	19: 47,003,564 (GRCm39)	A124V	probably benign	Het
Inhbb	T	A	1: 119,345,411 (GRCm39)	I293F	probably damaging	Het
Itpr3	A	G	17: 27,314,449 (GRCm39)	Y633C	possibly damaging	Het
Jag2	C	T	12: 112,872,949 (GRCm39)	V1102I	probably benign	Het
Kalrn	A	T	16: 33,796,361 (GRCm39)	F1138Y	probably benign	Het
Large2	T	A	2: 92,200,853 (GRCm39)		probably benign	Het
Lats2	A	G	14: 57,959,966 (GRCm39)	S177P	probably benign	Het
Lims2	G	A	18: 32,087,515 (GRCm39)	R124H	possibly damaging	Het
Lrp2	T	A	2: 69,313,787 (GRCm39)	T2315S	probably benign	Het
Lrrc4c	A	C	2: 97,459,391 (GRCm39)	T6P	probably benign	Het
Lrrk2	T	C	15: 91,626,469 (GRCm39)	L1171S	possibly damaging	Het
Man2b2	A	T	5: 36,978,378 (GRCm39)	M302K	probably damaging	Het
Mocos	G	A	18: 24,834,542 (GRCm39)	G860R	possibly damaging	Het
Mylk3	T	A	8: 86,085,571 (GRCm39)	D258V	possibly damaging	Het
Nkx1-2	C	T	7: 132,201,240 (GRCm39)	D6N	probably damaging	Het
Nrp2	A	G	1: 62,758,176 (GRCm39)	N54S	possibly damaging	Het
Nt5el	T	C	13: 105,256,473 (GRCm39)	I514T	possibly damaging	Het
Or2d2	A	G	7: 106,727,848 (GRCm39)	F251L	probably benign	Het
Pacsin1	A	T	17: 27,926,879 (GRCm39)	T195S	probably benign	Het
Pank4	T	C	4: 155,056,693 (GRCm39)		probably null	Het
Pdgfra	A	T	5: 75,327,180 (GRCm39)	M126L	probably benign	Het
Podxl	T	A	6: 31,505,432 (GRCm39)	T204S	probably benign	Het
Pole	G	A	5: 110,484,240 (GRCm39)	D2175N	probably damaging	Het
Pramel16	C	T	4: 143,677,267 (GRCm39)	G104E	probably benign	Het
Prkdc	A	G	16: 15,587,749 (GRCm39)	K2545E	probably benign	Het
Prodh	T	C	16: 17,897,849 (GRCm39)	I183V	probably benign	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rapgef5	G	A	12: 117,684,988 (GRCm39)	V246M	probably damaging	Het
Rubcnl	A	G	14: 75,269,834 (GRCm39)	N164S	probably benign	Het
Samd4	A	T	14: 47,290,419 (GRCm39)	L175F	probably damaging	Het
Scart1	G	A	7: 139,808,642 (GRCm39)	G851D	probably damaging	Het
Scimp	C	A	11: 70,688,893 (GRCm39)	W41L	possibly damaging	Het
Scn3a	T	A	2: 65,291,843 (GRCm39)	K1634N	possibly damaging	Het
Spta1	A	G	1: 174,030,888 (GRCm39)	R957G	probably benign	Het
Sptlc3	T	A	2: 139,478,692 (GRCm39)	N550K	probably benign	Het
Srebf1	T	C	11: 60,094,361 (GRCm39)	N609D	probably null	Het
Styxl1	A	T	5: 135,776,664 (GRCm39)	L164H	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Tnfsf15	T	C	4: 63,663,267 (GRCm39)	M19V	probably damaging	Het
Trappc8	G	C	18: 20,970,132 (GRCm39)	R953G	probably benign	Het
Trav13-1	A	G	14: 53,782,800 (GRCm39)	N50S	probably benign	Het
Trim12a	T	C	7: 103,955,241 (GRCm39)	K161E	probably benign	Het
Vipr1	C	A	9: 121,493,640 (GRCm39)	N230K	probably damaging	Het
Xirp1	A	T	9: 119,847,557 (GRCm39)	V3E	probably damaging	Het
Zfp768	A	G	7: 126,943,892 (GRCm39)	F82L	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
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
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'- GGGCTGAGTCCAGATATTCATG -3'
(R):5'- AAAGATTGCCTTGCACTGAACTAC -3'

Sequencing Primer
(F):5'- CAGACATTGATTATTGGGCTATACC -3'
(R):5'- GCCCATCATCCCAGGAGTTC -3'

Posted On

2018-05-04