Mutagenetix > Incidental Mutation

Incidental Mutation 'R0734:Dthd1'

68142

Institutional Source

Beutler Lab

Gene Symbol

Dthd1

Ensembl Gene

ENSMUSG00000090326

Gene Name

death domain containing 1

Synonyms

Gm17384

MMRRC Submission

038915-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R0734 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

62969017-63045651 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 62996753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170704]

AlphaFold

A0A571BG01

Predicted Effect

probably benign
Transcript: ENSMUST00000170704

SMART Domains

Protein: ENSMUSP00000131534
Gene: ENSMUSG00000090326

Domain	Start	End	E-Value	Type
Pfam:Death	693	778	4.2e-12	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.0%
20x: 93.3%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,668,198 (GRCm39)	S530T	probably benign	Het
Acer2	G	T	4: 86,835,796 (GRCm39)	K223N	probably benign	Het
Adam19	T	G	11: 46,018,230 (GRCm39)	C431G	probably damaging	Het
Adamts16	T	G	13: 70,886,600 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,344,500 (GRCm39)	E531V	probably benign	Het
Apaf1	A	T	10: 90,872,883 (GRCm39)	N720K	probably benign	Het
Atrnl1	T	A	19: 57,643,293 (GRCm39)	W394R	probably damaging	Het
Bcl6	T	C	16: 23,786,889 (GRCm39)	E634G	probably damaging	Het
Cfap65	T	A	1: 74,958,046 (GRCm39)	Y954F	probably damaging	Het
Cobl	A	G	11: 12,325,971 (GRCm39)	V168A	probably damaging	Het
Cped1	C	T	6: 22,085,040 (GRCm39)	P210S	probably damaging	Het
Crb1	C	T	1: 139,264,822 (GRCm39)	V199M	probably benign	Het
Cyp2j6	A	T	4: 96,412,081 (GRCm39)		probably benign	Het
Dhrs3	C	G	4: 144,653,746 (GRCm39)	S289W	probably damaging	Het
Dido1	T	G	2: 180,301,835 (GRCm39)	Q2023P	probably benign	Het
Dlg4	G	A	11: 69,933,531 (GRCm39)	G550R	probably damaging	Het
Dnah12	C	A	14: 26,521,970 (GRCm39)	H1928N	probably benign	Het
Erg	C	A	16: 95,170,884 (GRCm39)	G269C	possibly damaging	Het
Erich6	G	A	3: 58,536,809 (GRCm39)		probably benign	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fancc	T	C	13: 63,479,656 (GRCm39)	R300G	probably damaging	Het
Fcer1g	T	A	1: 171,058,748 (GRCm39)	K47*	probably null	Het
Flt4	A	G	11: 49,517,544 (GRCm39)	T289A	possibly damaging	Het
Gcnt2	T	A	13: 41,013,997 (GRCm39)	F56Y	probably benign	Het
Gpatch8	G	T	11: 102,372,226 (GRCm39)	S437R	unknown	Het
Grin2a	T	A	16: 9,397,475 (GRCm39)	I871F	possibly damaging	Het
Hsd17b4	T	C	18: 50,303,844 (GRCm39)	V439A	possibly damaging	Het
Hykk	A	T	9: 54,853,716 (GRCm39)	K346M	possibly damaging	Het
Ifi208	T	C	1: 173,510,901 (GRCm39)	L352S	probably damaging	Het
Ikzf1	T	C	11: 11,708,195 (GRCm39)	V110A	probably damaging	Het
Irak3	A	T	10: 119,981,542 (GRCm39)		probably benign	Het
Lamp5	T	A	2: 135,900,950 (GRCm39)	V50E	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrch3	C	T	16: 32,817,853 (GRCm39)	R570*	probably null	Het
Map1lc3a	T	C	2: 155,118,896 (GRCm39)	V20A	possibly damaging	Het
Map3k14	C	A	11: 103,117,826 (GRCm39)	K655N	probably benign	Het
Mark2	A	G	19: 7,263,346 (GRCm39)		probably benign	Het
Mbtd1	G	A	11: 93,813,972 (GRCm39)	G205D	probably damaging	Het
Med13	T	C	11: 86,192,063 (GRCm39)	T861A	probably benign	Het
Meltf	T	A	16: 31,700,776 (GRCm39)	Y99N	probably damaging	Het
Mex3d	G	A	10: 80,217,366 (GRCm39)	T617I	possibly damaging	Het
Muc13	G	A	16: 33,623,452 (GRCm39)	V249I	probably damaging	Het
Myo18a	C	A	11: 77,738,230 (GRCm39)	P1688Q	probably damaging	Het
Naaladl1	A	T	19: 6,162,904 (GRCm39)		probably null	Het
Ncoa3	T	A	2: 165,911,111 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,770,409 (GRCm39)	T67A	probably benign	Het
Nin	A	G	12: 70,076,887 (GRCm39)	V1056A	probably benign	Het
Or1p1	A	T	11: 74,179,772 (GRCm39)	Q100L	probably damaging	Het
Or4d10c	T	A	19: 12,065,483 (GRCm39)	R224S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
P3h1	T	C	4: 119,095,885 (GRCm39)	L331P	probably damaging	Het
Pabpc4l	T	C	3: 46,401,408 (GRCm39)	K79E	possibly damaging	Het
Pam	T	A	1: 97,792,087 (GRCm39)	R445*	probably null	Het
Pcdhb6	T	C	18: 37,468,387 (GRCm39)	I436T	probably damaging	Het
Piezo2	A	G	18: 63,174,794 (GRCm39)	Y1987H	probably damaging	Het
Plch2	G	A	4: 155,080,740 (GRCm39)	T477I	probably damaging	Het
Postn	G	A	3: 54,270,136 (GRCm39)	G72R	probably damaging	Het
Proca1	G	A	11: 78,092,628 (GRCm39)		probably benign	Het
Psip1	T	A	4: 83,381,825 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,058,834 (GRCm39)	P153L	probably damaging	Het
Rgl1	T	C	1: 152,430,051 (GRCm39)	D242G	probably damaging	Het
Ric1	T	A	19: 29,572,218 (GRCm39)	I671K	possibly damaging	Het
Rxrg	T	A	1: 167,455,013 (GRCm39)	C199S	probably damaging	Het
Sec24c	A	C	14: 20,743,813 (GRCm39)	D1006A	probably damaging	Het
Sec63	A	G	10: 42,672,204 (GRCm39)	T173A	probably benign	Het
Sfxn5	T	C	6: 85,244,847 (GRCm39)		probably benign	Het
Spam1	A	G	6: 24,796,948 (GRCm39)	I300V	probably benign	Het
Spem1	A	G	11: 69,712,097 (GRCm39)	L189P	probably damaging	Het
Sptbn2	A	T	19: 4,798,151 (GRCm39)	R1959*	probably null	Het
Timeless	C	T	10: 128,085,929 (GRCm39)	R935W	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim24	T	C	6: 37,896,400 (GRCm39)	Y286H	possibly damaging	Het
Ttyh2	A	G	11: 114,601,019 (GRCm39)		probably benign	Het
Zbtb21	C	T	16: 97,753,827 (GRCm39)	C180Y	probably damaging	Het
Zfp746	T	C	6: 48,041,833 (GRCm39)	T298A	probably damaging	Het

Other mutations in Dthd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Boatman	UTSW	5	62,976,058 (GRCm39)	missense	probably benign	0.28
Coin	UTSW	5	63,000,259 (GRCm39)	missense	probably damaging	0.98
FR4340:Dthd1	UTSW	5	63,000,369 (GRCm39)	small insertion	probably benign
FR4342:Dthd1	UTSW	5	63,000,369 (GRCm39)	small insertion	probably benign
FR4589:Dthd1	UTSW	5	63,000,369 (GRCm39)	frame shift	probably null
FR4976:Dthd1	UTSW	5	63,000,367 (GRCm39)	small insertion	probably benign
R0096:Dthd1	UTSW	5	63,000,383 (GRCm39)	missense	possibly damaging	0.75
R0096:Dthd1	UTSW	5	63,000,383 (GRCm39)	missense	possibly damaging	0.75
R0395:Dthd1	UTSW	5	62,971,676 (GRCm39)	missense	possibly damaging	0.71
R0899:Dthd1	UTSW	5	63,000,271 (GRCm39)	missense	probably benign	0.01
R0970:Dthd1	UTSW	5	63,045,324 (GRCm39)	missense	probably damaging	1.00
R1104:Dthd1	UTSW	5	62,979,302 (GRCm39)	missense	probably damaging	1.00
R1518:Dthd1	UTSW	5	62,979,383 (GRCm39)	missense	probably damaging	1.00
R1831:Dthd1	UTSW	5	62,984,572 (GRCm39)	missense	probably benign	0.02
R2110:Dthd1	UTSW	5	63,000,222 (GRCm39)	missense	probably damaging	0.99
R2110:Dthd1	UTSW	5	62,979,251 (GRCm39)	missense	probably damaging	1.00
R2112:Dthd1	UTSW	5	63,000,222 (GRCm39)	missense	probably damaging	0.99
R2112:Dthd1	UTSW	5	62,979,251 (GRCm39)	missense	probably damaging	1.00
R2248:Dthd1	UTSW	5	63,007,243 (GRCm39)	missense	probably damaging	0.99
R2311:Dthd1	UTSW	5	62,996,580 (GRCm39)	splice site	probably benign
R2937:Dthd1	UTSW	5	63,000,300 (GRCm39)	missense	probably benign	0.02
R2938:Dthd1	UTSW	5	63,000,300 (GRCm39)	missense	probably benign	0.02
R3835:Dthd1	UTSW	5	63,007,128 (GRCm39)	missense	probably damaging	1.00
R3855:Dthd1	UTSW	5	63,045,366 (GRCm39)	missense	probably benign	0.00
R3855:Dthd1	UTSW	5	62,984,472 (GRCm39)	missense	probably benign	0.21
R4049:Dthd1	UTSW	5	62,984,508 (GRCm39)	nonsense	probably null
R4321:Dthd1	UTSW	5	62,976,033 (GRCm39)	missense	probably damaging	0.99
R4353:Dthd1	UTSW	5	63,000,210 (GRCm39)	missense	probably benign	0.04
R4560:Dthd1	UTSW	5	62,984,435 (GRCm39)	missense	probably damaging	1.00
R4613:Dthd1	UTSW	5	62,984,411 (GRCm39)	missense	probably damaging	1.00
R4689:Dthd1	UTSW	5	63,000,255 (GRCm39)	missense	probably damaging	0.99
R4715:Dthd1	UTSW	5	63,045,530 (GRCm39)	missense	probably benign
R4718:Dthd1	UTSW	5	62,976,136 (GRCm39)	missense	probably damaging	1.00
R4967:Dthd1	UTSW	5	63,045,549 (GRCm39)	missense	probably benign	0.01
R5068:Dthd1	UTSW	5	62,976,059 (GRCm39)	missense	probably benign
R5089:Dthd1	UTSW	5	63,007,248 (GRCm39)	missense	probably benign
R5355:Dthd1	UTSW	5	62,996,730 (GRCm39)	missense	probably damaging	1.00
R5470:Dthd1	UTSW	5	62,976,109 (GRCm39)	missense	probably damaging	1.00
R6284:Dthd1	UTSW	5	62,971,384 (GRCm39)	missense	possibly damaging	0.71
R6293:Dthd1	UTSW	5	63,000,193 (GRCm39)	missense	probably damaging	0.99
R6484:Dthd1	UTSW	5	62,971,675 (GRCm39)	missense	probably benign	0.34
R6516:Dthd1	UTSW	5	62,996,607 (GRCm39)	missense	probably benign	0.16
R6741:Dthd1	UTSW	5	63,000,289 (GRCm39)	missense	probably damaging	1.00
R6810:Dthd1	UTSW	5	62,971,672 (GRCm39)	missense	probably benign	0.01
R7565:Dthd1	UTSW	5	63,000,435 (GRCm39)	missense	probably damaging	1.00
R7595:Dthd1	UTSW	5	62,976,058 (GRCm39)	missense	probably benign	0.28
R7947:Dthd1	UTSW	5	62,971,653 (GRCm39)	missense	possibly damaging	0.90
R8131:Dthd1	UTSW	5	63,000,259 (GRCm39)	missense	probably damaging	0.98
R8356:Dthd1	UTSW	5	63,007,081 (GRCm39)	missense	probably damaging	1.00
R8829:Dthd1	UTSW	5	62,971,608 (GRCm39)	missense	probably benign	0.01
R8832:Dthd1	UTSW	5	62,971,608 (GRCm39)	missense	probably benign	0.01
R8945:Dthd1	UTSW	5	63,007,096 (GRCm39)	missense	probably benign	0.02
R9046:Dthd1	UTSW	5	62,984,603 (GRCm39)	missense	possibly damaging	0.87
R9180:Dthd1	UTSW	5	63,045,410 (GRCm39)	missense	probably benign	0.02
R9390:Dthd1	UTSW	5	62,975,904 (GRCm39)	missense	possibly damaging	0.83
R9462:Dthd1	UTSW	5	63,039,626 (GRCm39)	missense	probably benign	0.01
R9463:Dthd1	UTSW	5	63,039,626 (GRCm39)	missense	probably benign	0.01
R9464:Dthd1	UTSW	5	63,039,626 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTCCGAAAACCTGGTAACAGTGC -3'
(R):5'- TCCAACATGCTCCTTTAATGGCCTG -3'

Sequencing Primer
(F):5'- CCTGGTAACAGTGCATGTGAAAC -3'
(R):5'- CCTTTAATGGCCTGTCTAGAGAAC -3'

Posted On

2013-09-03