Mutagenetix > Incidental Mutation

Incidental Mutation 'R0512:Dedd'

47868

Institutional Source

Beutler Lab

Gene Symbol

Dedd

Ensembl Gene

ENSMUSG00000013973

Gene Name

death effector domain-containing

Synonyms

DEFT, Dedpro1, KE05, FLDED1, CASP8IP1

MMRRC Submission

038706-MU

Accession Numbers

Essential gene?

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

Stock #

R0512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171156713-171169899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 171168498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 228 (R228H)

Ref Sequence

ENSEMBL: ENSMUSP00000120278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006579] [ENSMUST00000064950] [ENSMUST00000097467] [ENSMUST00000111289] [ENSMUST00000111295] [ENSMUST00000111296] [ENSMUST00000111299] [ENSMUST00000111300] [ENSMUST00000129116] [ENSMUST00000135941] [ENSMUST00000156856] [ENSMUST00000148339] [ENSMUST00000135150] [ENSMUST00000127830] [ENSMUST00000142063] [ENSMUST00000157015]

AlphaFold

Q9Z1L3

Predicted Effect

probably benign
Transcript: ENSMUST00000006579

SMART Domains

Protein: ENSMUSP00000006579
Gene: ENSMUSG00000006412

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Prefoldin_2	18	93	3e-24	PFAM
low complexity region	102	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000064950
AA Change: R228H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068419
Gene: ENSMUSG00000013973
AA Change: R228H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097467
AA Change: R228H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095075
Gene: ENSMUSG00000013973
AA Change: R228H

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 damaging
Transcript: ENSMUST00000111299
AA Change: R228H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106930
Gene: ENSMUSG00000013973
AA Change: R228H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111300
AA Change: R228H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106931
Gene: ENSMUSG00000013973
AA Change: R228H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129116
AA Change: R228H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120278
Gene: ENSMUSG00000013973
AA Change: R228H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146428

Predicted Effect

probably benign
Transcript: ENSMUST00000135941

SMART Domains

Protein: ENSMUSP00000120106
Gene: ENSMUSG00000006412

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:Prefoldin_2	24	129	3.3e-32	PFAM
low complexity region	139	150	N/A	INTRINSIC

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: 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

probably benign
Transcript: ENSMUST00000127830

SMART Domains

Protein: ENSMUSP00000122628
Gene: ENSMUSG00000013973

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142063

SMART Domains

Protein: ENSMUSP00000120861
Gene: ENSMUSG00000013973

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

Predicted Effect

probably benign
Transcript: ENSMUST00000157015

Meta Mutation Damage Score

0.1621

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (92/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	G	5: 115,001,569 (GRCm39)	M22R	probably benign	Het
Abca8b	C	A	11: 109,841,476 (GRCm39)	M1039I	probably benign	Het
Actn2	A	T	13: 12,292,301 (GRCm39)	I653N	probably damaging	Het
Actr8	G	T	14: 29,700,513 (GRCm39)	V31L	probably benign	Het
Adam30	T	C	3: 98,069,441 (GRCm39)	C425R	probably damaging	Het
Armc1	A	G	3: 19,203,659 (GRCm39)	V89A	possibly damaging	Het
Atr	T	C	9: 95,817,579 (GRCm39)	M2090T	probably damaging	Het
Braf	T	A	6: 39,641,923 (GRCm39)		probably benign	Het
Cant1	A	T	11: 118,302,091 (GRCm39)	N75K	probably benign	Het
Chd7	C	T	4: 8,805,139 (GRCm39)		probably benign	Het
Clec16a	A	G	16: 10,432,444 (GRCm39)	Y488C	probably damaging	Het
Col6a3	A	T	1: 90,749,520 (GRCm39)		probably benign	Het
Col9a2	T	A	4: 120,911,504 (GRCm39)	M615K	probably benign	Het
Dhtkd1	C	T	2: 5,908,902 (GRCm39)	D731N	probably damaging	Het
Ercc2	A	G	7: 19,127,812 (GRCm39)	T651A	probably damaging	Het
Fam13a	T	A	6: 58,933,684 (GRCm39)	D302V	probably damaging	Het
Fam193a	T	C	5: 34,583,735 (GRCm39)	S19P	probably damaging	Het
Fam43a	T	C	16: 30,420,553 (GRCm39)	V379A	possibly damaging	Het
Fat1	C	A	8: 45,404,369 (GRCm39)	Y373*	probably null	Het
Fbxl15	A	C	19: 46,317,861 (GRCm39)	D181A	probably damaging	Het
Flt3	A	T	5: 147,278,080 (GRCm39)	C831*	probably null	Het
Foxj3	T	A	4: 119,443,033 (GRCm39)		probably benign	Het
Glul	T	C	1: 153,781,132 (GRCm39)		probably benign	Het
Gm16380	A	T	9: 53,791,529 (GRCm39)		noncoding transcript	Het
Gm7964	A	T	7: 83,405,158 (GRCm39)		noncoding transcript	Het
Hipk1	A	G	3: 103,667,890 (GRCm39)	F559S	possibly damaging	Het
Hnf4g	A	T	3: 3,716,682 (GRCm39)	I284F	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Icosl	A	G	10: 77,907,800 (GRCm39)	N120S	possibly damaging	Het
Ift172	A	G	5: 31,442,821 (GRCm39)	V155A	possibly damaging	Het
Kdm4c	A	G	4: 74,252,031 (GRCm39)	E426G	probably benign	Het
Kif23	A	G	9: 61,826,257 (GRCm39)		probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,086,129 (GRCm39)	C1456Y	possibly damaging	Het
Lamc3	T	A	2: 31,827,980 (GRCm39)	L1378Q	probably damaging	Het
Larp1b	T	A	3: 40,924,469 (GRCm39)	L121M	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lepr	A	C	4: 101,671,901 (GRCm39)	D975A	possibly damaging	Het
Magi1	A	G	6: 93,671,045 (GRCm39)	V1068A	probably damaging	Het
Malt1	T	A	18: 65,591,271 (GRCm39)	N358K	probably damaging	Het
Mfap4	T	A	11: 61,378,771 (GRCm39)	W240R	probably damaging	Het
Mis18a	A	G	16: 90,523,244 (GRCm39)	V84A	possibly damaging	Het
Mns1	A	G	9: 72,356,753 (GRCm39)	E308G	possibly damaging	Het
Mpp2	C	A	11: 101,953,116 (GRCm39)	L258F	possibly damaging	Het
Myh2	A	G	11: 67,079,504 (GRCm39)	E987G	probably damaging	Het
Myof	A	G	19: 37,942,972 (GRCm39)	V702A	possibly damaging	Het
Nhs	C	A	X: 160,620,355 (GRCm39)	R1467I	probably damaging	Het
Nrxn2	A	G	19: 6,567,228 (GRCm39)	T1360A	probably damaging	Het
Obox6	A	G	7: 15,567,874 (GRCm39)	I191T	probably benign	Het
Pacs2	G	T	12: 113,014,547 (GRCm39)	R236L	probably damaging	Het
Pcdhb2	T	G	18: 37,429,032 (GRCm39)	V335G	probably damaging	Het
Phyhipl	T	C	10: 70,404,748 (GRCm39)	I140M	probably damaging	Het
Pkhd1	T	C	1: 20,380,738 (GRCm39)		probably benign	Het
Ppp1r3b	T	G	8: 35,851,571 (GRCm39)	C137G	probably damaging	Het
Prdm13	T	A	4: 21,678,490 (GRCm39)	I667F	probably damaging	Het
Prex2	A	G	1: 11,270,157 (GRCm39)	M1281V	probably benign	Het
Rab40b	A	G	11: 121,250,412 (GRCm39)	F81L	probably damaging	Het
Rb1cc1	T	C	1: 6,318,767 (GRCm39)	S729P	probably damaging	Het
Rcl1	A	G	19: 29,105,497 (GRCm39)	D228G	probably damaging	Het
Rhbdf1	A	T	11: 32,160,875 (GRCm39)	C19*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf150	G	A	8: 83,590,807 (GRCm39)	V57M	probably benign	Het
Rp9	A	G	9: 22,370,015 (GRCm39)	F51L	probably benign	Het
Sav1	A	T	12: 70,015,975 (GRCm39)	Y274*	probably null	Het
Scn4a	A	T	11: 106,236,503 (GRCm39)	D252E	probably damaging	Het
Scn5a	T	C	9: 119,379,724 (GRCm39)	T187A	probably damaging	Het
Sigirr	T	A	7: 140,672,333 (GRCm39)	D229V	probably benign	Het
Slc39a13	T	C	2: 90,896,031 (GRCm39)	S157G	possibly damaging	Het
Slc6a20a	A	G	9: 123,489,471 (GRCm39)	S191P	probably damaging	Het
Sorl1	C	A	9: 41,979,128 (GRCm39)	A457S	probably benign	Het
Spag5	A	G	11: 78,210,412 (GRCm39)		probably benign	Het
Spon1	A	G	7: 113,436,066 (GRCm39)	E119G	possibly damaging	Het
Spred2	T	A	11: 19,958,485 (GRCm39)		probably benign	Het
Sprr3	T	G	3: 92,364,784 (GRCm39)	Q20P	possibly damaging	Het
Strn3	A	T	12: 51,673,966 (GRCm39)	F464L	possibly damaging	Het
Sun1	A	G	5: 139,220,602 (GRCm39)		probably benign	Het
Sypl2	A	G	3: 108,133,486 (GRCm39)	W28R	possibly damaging	Het
Syt5	A	T	7: 4,545,813 (GRCm39)	V150D	probably damaging	Het
Tasor	T	C	14: 27,168,363 (GRCm39)	F302L	probably damaging	Het
Thsd7a	A	G	6: 12,379,604 (GRCm39)	I940T	possibly damaging	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tnrc6a	T	A	7: 122,785,951 (GRCm39)		probably benign	Het
Trp53	T	A	11: 69,479,509 (GRCm39)	L203Q	probably damaging	Het
Tubgcp4	T	C	2: 121,005,900 (GRCm39)	V96A	probably benign	Het
Usp17la	A	G	7: 104,510,246 (GRCm39)	T284A	possibly damaging	Het
Usp34	T	C	11: 23,401,997 (GRCm39)	M2409T	probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,449,350 (GRCm39)	I296T	probably benign	Het
Vmn2r67	A	G	7: 84,799,900 (GRCm39)	V446A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp267	T	C	3: 36,220,262 (GRCm39)	C762R	probably 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
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
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'- TGTAGGGCAGCTCCAGAATTGAAAC -3'
(R):5'- TGATGAAGACACCTTTCAGTGCCTC -3'

Sequencing Primer
(F):5'- GCTCCAGAATTGAAACCAGTG -3'
(R):5'- TCAGTGCCTCTAATAATGAGCC -3'

Posted On

2013-06-12