Incidental Mutation 'R3835:Dthd1'
| ID |
275582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dthd1
|
| Ensembl Gene |
ENSMUSG00000090326 |
| Gene Name |
death domain containing 1 |
| Synonyms |
Gm17384 |
| MMRRC Submission |
040890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R3835 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
62969017-63045651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63007128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 610
(R610W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170704]
|
| AlphaFold |
A0A571BG01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170704
AA Change: R610W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131534
Gene: ENSMUSG00000090326
AA Change: R610W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Death
|
693 |
778 |
4.2e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.3432 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,254 (GRCm39) |
I479T |
probably damaging |
Het |
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Anapc7 |
A |
G |
5: 122,581,940 (GRCm39) |
T528A |
possibly damaging |
Het |
| Ap5b1 |
A |
G |
19: 5,618,918 (GRCm39) |
T113A |
possibly damaging |
Het |
| Apaf1 |
G |
A |
10: 90,895,449 (GRCm39) |
R439C |
probably benign |
Het |
| Apoa5 |
A |
T |
9: 46,181,878 (GRCm39) |
H318L |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,169,911 (GRCm39) |
R1545G |
probably benign |
Het |
| Btnl9 |
T |
G |
11: 49,071,512 (GRCm39) |
T104P |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,533,449 (GRCm39) |
K107R |
probably benign |
Het |
| Eno1 |
T |
C |
4: 150,331,119 (GRCm39) |
S186P |
probably benign |
Het |
| Gipc2 |
C |
A |
3: 151,833,823 (GRCm39) |
V153F |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,783 (GRCm39) |
Y295C |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 74,945,044 (GRCm39) |
Q735L |
probably benign |
Het |
| Lrrc10 |
A |
G |
10: 116,881,691 (GRCm39) |
N122D |
possibly damaging |
Het |
| Lrrc37 |
C |
A |
11: 103,510,836 (GRCm39) |
L377F |
unknown |
Het |
| Meis2 |
T |
C |
2: 115,752,228 (GRCm39) |
H301R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Nalcn |
A |
T |
14: 123,530,834 (GRCm39) |
|
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,723 (GRCm39) |
|
probably benign |
Het |
| Nnt |
C |
T |
13: 119,509,031 (GRCm39) |
G403R |
probably damaging |
Het |
| Or4a79 |
T |
G |
2: 89,551,799 (GRCm39) |
I219L |
possibly damaging |
Het |
| Or4d6 |
T |
A |
19: 12,086,764 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or5b109 |
A |
T |
19: 13,212,103 (GRCm39) |
D163V |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,631 (GRCm39) |
E468G |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,158,121 (GRCm39) |
D56G |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,701,435 (GRCm39) |
S42P |
probably damaging |
Het |
| Rab9b |
C |
T |
X: 135,762,259 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,384,710 (GRCm39) |
E606G |
probably damaging |
Het |
| Setx |
C |
T |
2: 29,035,072 (GRCm39) |
S519L |
possibly damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Snrk |
T |
C |
9: 121,966,069 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,657,109 (GRCm39) |
D422G |
probably damaging |
Het |
| Stag1 |
C |
T |
9: 100,620,035 (GRCm39) |
T46I |
probably damaging |
Het |
| Tagln |
T |
C |
9: 45,843,008 (GRCm39) |
I18V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,625,292 (GRCm39) |
T1553A |
probably benign |
Het |
| Tbx18 |
C |
A |
9: 87,611,689 (GRCm39) |
A114S |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,659,322 (GRCm39) |
D259G |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,212,214 (GRCm39) |
D76G |
probably damaging |
Het |
| Vmn2r24 |
G |
T |
6: 123,764,412 (GRCm39) |
D430Y |
probably benign |
Het |
| Xlr3a |
T |
C |
X: 72,138,644 (GRCm39) |
E5G |
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 |
|
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'- GTAACTTGCTATGGCTGCTAGG -3'
(R):5'- CTTACCTTTGGCAATTTCAGTGG -3'
Sequencing Primer
(F):5'- TATGTTCACAAGCAATGATAACACAC -3'
(R):5'- TCAGTGGTAATTTGCAAACTGG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation