Incidental Mutation 'R8945:Dthd1'
| ID |
681229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dthd1
|
| Ensembl Gene |
ENSMUSG00000090326 |
| Gene Name |
death domain containing 1 |
| Synonyms |
Gm17384 |
| MMRRC Submission |
068713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R8945 (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 63007096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 599
(Y599F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170704]
|
| AlphaFold |
A0A571BG01 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170704
AA Change: Y599F
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000131534
Gene: ENSMUSG00000090326
AA Change: Y599F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Death
|
693 |
778 |
4.2e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (57/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aopep |
G |
T |
13: 63,388,145 (GRCm39) |
K709N |
probably null |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| Atp6v0a2 |
G |
T |
5: 124,784,589 (GRCm39) |
A291S |
probably damaging |
Het |
| Bcl9l |
G |
T |
9: 44,412,238 (GRCm39) |
V38L |
possibly damaging |
Het |
| Bmp1 |
T |
C |
14: 70,727,630 (GRCm39) |
Y651C |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,065,661 (GRCm39) |
E398G |
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,040,286 (GRCm39) |
N285I |
possibly damaging |
Het |
| Cavin1 |
T |
C |
11: 100,849,659 (GRCm39) |
T324A |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,821,712 (GRCm39) |
T554A |
probably benign |
Het |
| Clcn1 |
A |
T |
6: 42,263,701 (GRCm39) |
M1L |
possibly damaging |
Het |
| Clec18a |
A |
T |
8: 111,808,201 (GRCm39) |
S77T |
possibly damaging |
Het |
| Dhx32 |
A |
G |
7: 133,323,876 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
| Dnah10 |
A |
C |
5: 124,891,006 (GRCm39) |
E3199A |
probably damaging |
Het |
| Dnah11 |
G |
T |
12: 117,987,718 (GRCm39) |
L2395I |
probably benign |
Het |
| Dusp26 |
G |
A |
8: 31,586,367 (GRCm39) |
R196K |
unknown |
Het |
| Dyrk1a |
A |
G |
16: 94,466,866 (GRCm39) |
Y140C |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,766,438 (GRCm39) |
Y588* |
probably null |
Het |
| Eml6 |
T |
A |
11: 29,703,110 (GRCm39) |
T1603S |
probably damaging |
Het |
| Fam162b |
T |
C |
10: 51,466,469 (GRCm39) |
T17A |
probably benign |
Het |
| Fnbp1 |
T |
A |
2: 30,995,346 (GRCm39) |
K29N |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,056,792 (GRCm39) |
I280L |
possibly damaging |
Het |
| G3bp2 |
G |
A |
5: 92,216,281 (GRCm39) |
T85I |
probably damaging |
Het |
| Gm13283 |
C |
T |
4: 88,679,123 (GRCm39) |
A38V |
probably benign |
Het |
| Hps3 |
T |
A |
3: 20,068,224 (GRCm39) |
H610L |
probably damaging |
Het |
| Ifnlr1 |
T |
G |
4: 135,431,609 (GRCm39) |
L266R |
probably damaging |
Het |
| Jak1 |
A |
T |
4: 101,020,109 (GRCm39) |
D683E |
probably benign |
Het |
| Lrrc1 |
G |
A |
9: 77,342,373 (GRCm39) |
T412M |
probably damaging |
Het |
| Mdga1 |
G |
T |
17: 30,058,959 (GRCm39) |
|
probably benign |
Het |
| Med26 |
T |
C |
8: 73,250,934 (GRCm39) |
K55R |
probably benign |
Het |
| Mturn |
C |
A |
6: 54,666,017 (GRCm39) |
C63* |
probably null |
Het |
| Myo1h |
A |
C |
5: 114,470,784 (GRCm39) |
D381A |
probably damaging |
Het |
| Nectin1 |
A |
G |
9: 43,703,237 (GRCm39) |
D165G |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,575,558 (GRCm39) |
D330E |
possibly damaging |
Het |
| Oprm1 |
A |
T |
10: 6,782,644 (GRCm39) |
|
probably benign |
Het |
| Papola |
T |
A |
12: 105,775,946 (GRCm39) |
|
probably benign |
Het |
| Pdcl2 |
A |
T |
5: 76,465,675 (GRCm39) |
C134S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,039 (GRCm39) |
Y478C |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,122,824 (GRCm39) |
W465R |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,419,817 (GRCm39) |
I432F |
probably benign |
Het |
| Samd14 |
A |
C |
11: 94,912,027 (GRCm39) |
D168A |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 141,598,935 (GRCm39) |
C200F |
probably benign |
Het |
| Spmip2 |
A |
G |
3: 79,252,812 (GRCm39) |
H9R |
probably benign |
Het |
| Spsb1 |
T |
C |
4: 149,991,475 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Spz1 |
T |
C |
13: 92,711,499 (GRCm39) |
K326E |
possibly damaging |
Het |
| Tcaf1 |
C |
T |
6: 42,663,307 (GRCm39) |
S191N |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,064,724 (GRCm39) |
S1385G |
probably benign |
Het |
| Tmem38a |
C |
T |
8: 73,338,570 (GRCm39) |
A194V |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,929,945 (GRCm39) |
N137S |
probably benign |
Het |
| Tshr |
T |
C |
12: 91,504,997 (GRCm39) |
L645P |
probably damaging |
Het |
| Tspyl4 |
T |
A |
10: 34,173,461 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
T |
A |
8: 72,100,597 (GRCm39) |
I1064F |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,628,532 (GRCm39) |
Q921* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,642,114 (GRCm39) |
I2171N |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,401,201 (GRCm39) |
V14A |
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 |
|
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 |
|
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 |
2021-08-31 |
Incidental Mutation