Mutagenetix > Incidental Mutation

Incidental Mutation 'R8832:Dthd1'

673900

Institutional Source

Beutler Lab

Gene Symbol

Dthd1

Ensembl Gene

ENSMUSG00000090326

Gene Name

death domain containing 1

Synonyms

Gm17384

MMRRC Submission

068660-MU

Accession Numbers

Essential gene?

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

Stock #

R8832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62969017-63045651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62971608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 144 (S144P)

Ref Sequence

ENSEMBL: ENSMUSP00000131534 (fasta)

Gene Model

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

AlphaFold

A0A571BG01

Predicted Effect

probably benign
Transcript: ENSMUST00000170704
AA Change: S144P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000131534
Gene: ENSMUSG00000090326
AA Change: S144P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (81/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,341 (GRCm39)	E238V	probably damaging	Het
Adh6b	T	C	3: 138,055,463 (GRCm39)	V71A	probably benign	Het
Agmat	G	A	4: 141,474,320 (GRCm39)	R67H	probably benign	Het
AI182371	T	C	2: 34,985,909 (GRCm39)	D49G	unknown	Het
Ak7	A	G	12: 105,708,598 (GRCm39)	N351S	possibly damaging	Het
Aldh3b1	G	T	19: 3,964,025 (GRCm39)	R426S	probably damaging	Het
Aldh4a1	A	G	4: 139,371,466 (GRCm39)	D460G	probably benign	Het
Aox4	A	T	1: 58,294,649 (GRCm39)	M953L	probably benign	Het
Arhgap32	C	T	9: 32,172,115 (GRCm39)	P1632S	possibly damaging	Het
Armh1	A	G	4: 117,094,867 (GRCm39)	F58L	probably damaging	Het
Baz1b	C	T	5: 135,246,230 (GRCm39)	R560W	possibly damaging	Het
Bbs10	C	T	10: 111,136,266 (GRCm39)	Q460*	probably null	Het
BC034090	A	C	1: 155,102,034 (GRCm39)	S77A	probably damaging	Het
Bltp2	A	G	11: 78,158,064 (GRCm39)	K409E	probably benign	Het
Brca2	A	G	5: 150,465,611 (GRCm39)	K1792E	possibly damaging	Het
Cadps2	A	T	6: 23,587,536 (GRCm39)	L318Q	possibly damaging	Het
Catsperg2	A	G	7: 29,397,269 (GRCm39)	V1078A	probably benign	Het
Ccno	A	G	13: 113,126,239 (GRCm39)	N236S	probably benign	Het
Chct1	A	G	11: 85,062,037 (GRCm39)	D12G	probably damaging	Het
Cobll1	A	T	2: 64,929,602 (GRCm39)	S575T	probably damaging	Het
Col6a4	A	G	9: 105,949,353 (GRCm39)	Y761H	probably benign	Het
Cyp2j9	G	T	4: 96,474,121 (GRCm39)	H106Q	probably benign	Het
Dennd2c	T	A	3: 103,059,720 (GRCm39)		probably null	Het
Drd5	G	A	5: 38,477,078 (GRCm39)	V24M	probably benign	Het
Fcna	C	A	2: 25,516,145 (GRCm39)	R124L	possibly damaging	Het
Fmnl2	A	G	2: 52,944,584 (GRCm39)	S188G		Het
Ggt1	A	T	10: 75,410,173 (GRCm39)	H35L	possibly damaging	Het
Gphn	A	T	12: 78,459,174 (GRCm39)		silent	Het
Hic1	G	A	11: 75,057,728 (GRCm39)	A387V	possibly damaging	Het
Hycc2	A	T	1: 58,587,832 (GRCm39)	I127N	possibly damaging	Het
Igf1r	T	A	7: 67,875,769 (GRCm39)	F1244I	probably damaging	Het
Kcnk7	T	C	19: 5,754,736 (GRCm39)	V78A	probably damaging	Het
Kit	A	G	5: 75,799,791 (GRCm39)	N508D	probably benign	Het
Klk1b22	A	T	7: 43,764,277 (GRCm39)	E68D	probably benign	Het
Klra4	C	T	6: 130,021,019 (GRCm39)	D259N	probably benign	Het
Krtap2-4	A	T	11: 99,505,246 (GRCm39)	C122S	unknown	Het
Map3k1	T	G	13: 111,889,015 (GRCm39)	H1314P	possibly damaging	Het
Mast2	C	T	4: 116,168,875 (GRCm39)		probably null	Het
Mfsd2a	A	G	4: 122,843,102 (GRCm39)	V393A	probably benign	Het
Myh7b	T	A	2: 155,475,182 (GRCm39)	V1858E	probably benign	Het
Myo1c	G	A	11: 75,561,072 (GRCm39)	V793I	probably benign	Het
Myt1l	T	A	12: 29,970,351 (GRCm39)	N1145K	unknown	Het
Nckap1l	T	A	15: 103,387,242 (GRCm39)	S706T	probably benign	Het
Nos2	A	G	11: 78,846,290 (GRCm39)		probably null	Het
Odf2l	C	T	3: 144,833,820 (GRCm39)	S160L	probably benign	Het
Or10ag54	T	A	2: 87,099,743 (GRCm39)	M206K	probably benign	Het
Or2av9	T	C	11: 58,381,063 (GRCm39)	I173V	possibly damaging	Het
Or4p18	A	G	2: 88,233,137 (GRCm39)	I47T	probably damaging	Het
Or56b34	T	C	7: 104,937,435 (GRCm39)	L45P	possibly damaging	Het
Or8g53	T	C	9: 39,683,886 (GRCm39)	D70G	probably damaging	Het
Pclo	T	C	5: 14,838,464 (GRCm39)	W1424R		Het
Pde8a	A	G	7: 80,956,498 (GRCm39)	N299S	probably benign	Het
Pi4kb	C	T	3: 94,900,344 (GRCm39)	T326M	probably damaging	Het
Pip4k2c	A	T	10: 127,037,037 (GRCm39)	H177Q	probably damaging	Het
Pld1	T	A	3: 28,177,846 (GRCm39)	W686R		Het
Ppp1r3b	A	T	8: 35,851,419 (GRCm39)	D86V	probably damaging	Het
Ppp1r3g	C	T	13: 36,153,143 (GRCm39)	R188*	probably null	Het
Pramel48	G	T	5: 95,630,939 (GRCm39)	C272F	possibly damaging	Het
Ptbp1	A	G	10: 79,699,023 (GRCm39)	E527G	probably damaging	Het
Rasef	T	C	4: 73,698,558 (GRCm39)		probably benign	Het
Rce1	A	T	19: 4,675,532 (GRCm39)	C34S	unknown	Het
Rnf144a	T	C	12: 26,370,948 (GRCm39)		probably benign	Het
Rpl7	C	T	1: 16,173,485 (GRCm39)	R88H	possibly damaging	Het
Rubcnl	A	T	14: 75,269,359 (GRCm39)	T6S		Het
Samd9l	A	T	6: 3,374,990 (GRCm39)	V757D	probably damaging	Het
Sec22c	A	G	9: 121,514,638 (GRCm39)	V221A	probably benign	Het
Slc16a6	A	G	11: 109,345,932 (GRCm39)	Y444H	probably benign	Het
Slc6a15	A	T	10: 103,225,179 (GRCm39)	Y89F	probably damaging	Het
Smg1	A	G	7: 117,739,006 (GRCm39)	V3466A	probably benign	Het
Sobp	G	A	10: 43,036,824 (GRCm39)	T38I	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srsf5	T	A	12: 80,996,278 (GRCm39)	F151I	probably damaging	Het
Taf2	A	C	15: 54,928,001 (GRCm39)	L134R	possibly damaging	Het
Tbc1d1	A	G	5: 64,442,020 (GRCm39)		probably benign	Het
Thap1	C	T	8: 26,648,261 (GRCm39)		probably benign	Het
Tmc5	A	T	7: 118,222,332 (GRCm39)	M11L	probably benign	Het
Tnfaip8	ACACACTCTCTCTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tomm7	T	C	5: 24,049,047 (GRCm39)	K9E	possibly damaging	Het
Trem3	T	C	17: 48,556,865 (GRCm39)	V112A	probably benign	Het
Vmn1r178	G	A	7: 23,593,264 (GRCm39)	C104Y	probably damaging	Het
Zdhhc20	A	T	14: 58,080,721 (GRCm39)	S263T	possibly damaging	Het
Zdhhc20	A	G	14: 58,103,089 (GRCm39)	S87P	probably benign	Het
Zfp423	C	A	8: 88,507,827 (GRCm39)	C839F	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
R0734:Dthd1	UTSW	5	62,996,753 (GRCm39)	splice site	probably benign
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
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'- TTCTACAAATGCAGGGGAGAGC -3'
(R):5'- TACAATGCACGGATAGGTAGGC -3'

Sequencing Primer
(F):5'- ATGCAGGGGAGAGCCATTCC -3'
(R):5'- GGTAGGCATATATAGAAGCTCCTCTC -3'

Posted On

2021-07-15