Incidental Mutation 'R0096:Dthd1'
ID |
64056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dthd1
|
Ensembl Gene |
ENSMUSG00000090326 |
Gene Name |
death domain containing 1 |
Synonyms |
Gm17384 |
MMRRC Submission |
038382-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.286)
|
Stock # |
R0096 (G1)
|
Quality Score |
161 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
62969017-63045651 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63000383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 568
(R568S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131534
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170704]
|
AlphaFold |
A0A571BG01 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170704
AA Change: R568S
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000131534 Gene: ENSMUSG00000090326 AA Change: R568S
Domain | Start | End | E-Value | Type |
Pfam:Death
|
693 |
778 |
4.2e-12 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.5%
|
Validation Efficiency |
100% (69/69) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
Adamts3 |
G |
A |
5: 89,849,576 (GRCm39) |
Q615* |
probably null |
Het |
Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
Anks1b |
T |
C |
10: 89,909,924 (GRCm39) |
S48P |
possibly damaging |
Het |
Aoc1l2 |
A |
C |
6: 48,908,122 (GRCm39) |
Q374P |
probably damaging |
Het |
Arfip2 |
T |
A |
7: 105,287,437 (GRCm39) |
K94N |
probably damaging |
Het |
Arhgap42 |
G |
T |
9: 9,009,314 (GRCm39) |
N524K |
probably damaging |
Het |
Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
Arid4b |
T |
C |
13: 14,303,779 (GRCm39) |
V68A |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
Capn3 |
A |
T |
2: 120,333,010 (GRCm39) |
H592L |
possibly damaging |
Het |
Dglucy |
A |
T |
12: 100,804,910 (GRCm39) |
I134F |
possibly damaging |
Het |
Dhh |
T |
A |
15: 98,791,869 (GRCm39) |
M380L |
probably benign |
Het |
Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
Efr3a |
A |
G |
15: 65,727,290 (GRCm39) |
N613S |
probably damaging |
Het |
Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
Fam120c |
CCAGCAGCAGCAGCAGCA |
CCAGCAGCAGCAGCA |
X: 150,127,341 (GRCm39) |
|
probably benign |
Het |
Fbrs |
C |
T |
7: 127,088,659 (GRCm39) |
A145V |
probably damaging |
Het |
Gm4736 |
T |
C |
6: 132,092,569 (GRCm39) |
|
noncoding transcript |
Het |
Gm9873 |
A |
T |
2: 168,863,029 (GRCm39) |
|
noncoding transcript |
Het |
Grik1 |
T |
C |
16: 87,831,114 (GRCm39) |
M219V |
possibly damaging |
Het |
Gtsf1l |
C |
T |
2: 162,929,456 (GRCm39) |
C9Y |
probably damaging |
Het |
Itih5 |
G |
A |
2: 10,256,189 (GRCm39) |
R885Q |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,275,580 (GRCm39) |
E752G |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
A |
17: 68,112,408 (GRCm39) |
F2283I |
probably benign |
Het |
Luc7l3 |
A |
G |
11: 94,192,320 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
Map1a |
A |
G |
2: 121,131,986 (GRCm39) |
E696G |
probably damaging |
Het |
Mrps34 |
A |
G |
17: 25,114,643 (GRCm39) |
D110G |
probably damaging |
Het |
Myh11 |
T |
A |
16: 14,022,231 (GRCm39) |
K1710M |
possibly damaging |
Het |
Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
Nos1ap |
T |
C |
1: 170,156,816 (GRCm39) |
D214G |
probably damaging |
Het |
Or4c119 |
A |
T |
2: 88,986,640 (GRCm39) |
M293K |
probably benign |
Het |
Or8b46 |
A |
T |
9: 38,450,832 (GRCm39) |
I214F |
probably damaging |
Het |
Pate4 |
T |
G |
9: 35,523,130 (GRCm39) |
T5P |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,237,940 (GRCm39) |
|
probably benign |
Het |
Samd4 |
A |
T |
14: 47,301,754 (GRCm39) |
M252L |
possibly damaging |
Het |
Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
Sis |
A |
T |
3: 72,835,600 (GRCm39) |
W921R |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,454,965 (GRCm39) |
|
probably benign |
Het |
Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,045,528 (GRCm39) |
Q31K |
probably damaging |
Het |
Taar7f |
A |
G |
10: 23,926,152 (GRCm39) |
M249V |
probably benign |
Het |
Tarm1 |
T |
C |
7: 3,546,067 (GRCm39) |
T79A |
probably benign |
Het |
Tektl1 |
T |
A |
10: 78,584,539 (GRCm39) |
I328L |
probably benign |
Het |
Trf |
A |
G |
9: 103,099,358 (GRCm39) |
F300L |
probably damaging |
Het |
Vmn1r69 |
T |
A |
7: 10,313,985 (GRCm39) |
I170F |
probably damaging |
Het |
Vmn2r105 |
A |
G |
17: 20,447,741 (GRCm39) |
F361S |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,686,527 (GRCm39) |
Y636C |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,231,005 (GRCm39) |
N68D |
probably damaging |
Het |
Zfp345 |
T |
A |
2: 150,314,220 (GRCm39) |
H439L |
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 |
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 |
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'- AACCTGTCTTCCCCAGTGGACAAC -3'
(R):5'- GCCTGAACTCAGGAAGCAATCATAGAG -3'
Sequencing Primer
(F):5'- AGTGGACAACAGCCTCTTG -3'
(R):5'- TCACCTGAAATCATTGCATAAAAAC -3'
|
Posted On |
2013-08-06 |