Incidental Mutation 'R8356:Dthd1'
| ID |
660324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dthd1
|
| Ensembl Gene |
ENSMUSG00000090326 |
| Gene Name |
death domain containing 1 |
| Synonyms |
Gm17384 |
| MMRRC Submission |
067870-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.286)
|
| Stock # |
R8356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
62969017-63045651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63007081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 594
(D594V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170704]
|
| AlphaFold |
A0A571BG01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170704
AA Change: D594V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131534
Gene: ENSMUSG00000090326
AA Change: D594V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Death
|
693 |
778 |
4.2e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
A |
5: 113,861,868 (GRCm39) |
M1L |
unknown |
Het |
| Abcc9 |
A |
T |
6: 142,536,096 (GRCm39) |
M1546K |
probably benign |
Het |
| Acbd3 |
T |
C |
1: 180,553,881 (GRCm39) |
M72T |
probably benign |
Het |
| Adam6a |
T |
G |
12: 113,509,757 (GRCm39) |
L710R |
probably benign |
Het |
| Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,568,737 (GRCm39) |
L47Q |
probably damaging |
Het |
| Arhgap19 |
G |
A |
19: 41,762,615 (GRCm39) |
R414C |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,526,003 (GRCm39) |
S572P |
probably benign |
Het |
| Cdk10 |
G |
A |
8: 123,955,096 (GRCm39) |
R78H |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,320,847 (GRCm39) |
R655H |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,026,307 (GRCm39) |
H44Q |
probably benign |
Het |
| Cpped1 |
A |
T |
16: 11,712,793 (GRCm39) |
C32* |
probably null |
Het |
| Ddi1 |
A |
G |
9: 6,266,249 (GRCm39) |
V40A |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,457,287 (GRCm39) |
T588A |
probably benign |
Het |
| Degs2 |
A |
G |
12: 108,658,223 (GRCm39) |
I252T |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,994,972 (GRCm39) |
V2762I |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,444,313 (GRCm39) |
D4037G |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,444,469 (GRCm39) |
A4089V |
probably null |
Het |
| Ehmt1 |
A |
T |
2: 24,742,781 (GRCm39) |
M466K |
probably benign |
Het |
| Erich2 |
A |
T |
2: 70,357,873 (GRCm39) |
|
probably null |
Het |
| Fam221b |
T |
C |
4: 43,665,519 (GRCm39) |
D313G |
probably benign |
Het |
| Fbxl22 |
T |
C |
9: 66,421,732 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ggcx |
A |
G |
6: 72,406,574 (GRCm39) |
E679G |
probably benign |
Het |
| Gm14295 |
A |
G |
2: 176,501,307 (GRCm39) |
T266A |
probably benign |
Het |
| Hnrnpa1 |
A |
G |
15: 103,150,529 (GRCm39) |
D160G |
probably null |
Het |
| Hnrnpul1 |
T |
C |
7: 25,422,247 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,259,756 (GRCm39) |
E2576G |
possibly damaging |
Het |
| Ifit2 |
T |
A |
19: 34,550,908 (GRCm39) |
C149* |
probably null |
Het |
| Il18rap |
T |
A |
1: 40,564,084 (GRCm39) |
S67R |
probably benign |
Het |
| Kcnk4 |
T |
G |
19: 6,903,668 (GRCm39) |
S294R |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,100,683 (GRCm39) |
H1588R |
probably damaging |
Het |
| Klhl35 |
A |
T |
7: 99,122,129 (GRCm39) |
S77C |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,934,867 (GRCm39) |
M228K |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,662,256 (GRCm39) |
D587G |
probably benign |
Het |
| Lrrd1 |
C |
A |
5: 3,916,509 (GRCm39) |
T842K |
probably benign |
Het |
| Mafb |
G |
A |
2: 160,208,125 (GRCm39) |
H158Y |
probably benign |
Het |
| Mapk8ip3 |
T |
A |
17: 25,123,925 (GRCm39) |
E561D |
probably damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,717,542 (GRCm39) |
T158A |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,794,463 (GRCm39) |
E1214V |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,570,074 (GRCm39) |
I815T |
unknown |
Het |
| Ncoa6 |
T |
A |
2: 155,248,172 (GRCm39) |
I1711L |
possibly damaging |
Het |
| Neo1 |
G |
A |
9: 58,785,402 (GRCm39) |
T1408M |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,571,901 (GRCm39) |
V282D |
probably damaging |
Het |
| Nnt |
A |
C |
13: 119,476,368 (GRCm39) |
F632C |
probably damaging |
Het |
| Nup210 |
G |
A |
6: 91,051,330 (GRCm39) |
T351I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,872,943 (GRCm39) |
S145P |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,934 (GRCm39) |
S2P |
probably benign |
Het |
| P4ha1 |
C |
T |
10: 59,191,185 (GRCm39) |
T364I |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,252 (GRCm39) |
L194Q |
probably damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,531,703 (GRCm39) |
K196E |
probably damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,901,879 (GRCm39) |
|
probably null |
Het |
| Rbm11 |
G |
A |
16: 75,397,694 (GRCm39) |
R208K |
probably benign |
Het |
| Rps6ka1 |
T |
A |
4: 133,587,368 (GRCm39) |
Q535L |
possibly damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,516,505 (GRCm39) |
D621G |
probably benign |
Het |
| Sox10 |
T |
G |
15: 79,040,652 (GRCm39) |
E296A |
probably damaging |
Het |
| St3gal4 |
A |
C |
9: 34,964,438 (GRCm39) |
V188G |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,178 (GRCm39) |
I327F |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Zc2hc1c |
A |
G |
12: 85,337,471 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp423 |
G |
A |
8: 88,509,910 (GRCm39) |
P77S |
probably damaging |
Het |
| Zfp560 |
A |
T |
9: 20,260,231 (GRCm39) |
S210R |
probably benign |
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 |
|
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'- GAAATGTACAGTAACTTGCTATGGCTG -3'
(R):5'- TCAGTGGTAATTTGCAAACTGG -3'
Sequencing Primer
(F):5'- ACAGTAACTTGCTATGGCTGCTAGG -3'
(R):5'- GTGGTAATTTGCAAACTGGAAACTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation