Incidental Mutation 'R6484:Dthd1'
ID |
517246 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dthd1
|
Ensembl Gene |
ENSMUSG00000090326 |
Gene Name |
death domain containing 1 |
Synonyms |
Gm17384 |
MMRRC Submission |
044616-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.243)
|
Stock # |
R6484 (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 G
at 62971675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 166
(N166S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131534
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170704]
|
AlphaFold |
A0A571BG01 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170704
AA Change: N166S
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000131534 Gene: ENSMUSG00000090326 AA Change: N166S
Domain | Start | End | E-Value | Type |
Pfam:Death
|
693 |
778 |
4.2e-12 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.7%
|
Validation Efficiency |
100% (60/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abce1 |
A |
T |
8: 80,416,952 (GRCm39) |
M353K |
probably damaging |
Het |
Adgre4 |
G |
A |
17: 56,109,036 (GRCm39) |
V348M |
possibly damaging |
Het |
Alg8 |
T |
C |
7: 97,032,135 (GRCm39) |
V228A |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,169,921 (GRCm39) |
V1548A |
probably damaging |
Het |
Btbd8 |
T |
C |
5: 107,651,451 (GRCm39) |
S115P |
probably benign |
Het |
Car8 |
A |
G |
4: 8,189,362 (GRCm39) |
F151L |
probably benign |
Het |
CN725425 |
A |
G |
15: 91,144,775 (GRCm39) |
Q546R |
probably benign |
Het |
Col17a1 |
C |
T |
19: 47,658,868 (GRCm39) |
V414M |
possibly damaging |
Het |
Col6a3 |
C |
A |
1: 90,719,645 (GRCm39) |
|
probably null |
Het |
Cyp51 |
G |
A |
5: 4,136,627 (GRCm39) |
T389M |
probably benign |
Het |
Cyren |
G |
A |
6: 34,851,551 (GRCm39) |
S101L |
probably damaging |
Het |
Dazap1 |
A |
G |
10: 80,113,481 (GRCm39) |
T126A |
probably benign |
Het |
Dscc1 |
T |
A |
15: 54,943,686 (GRCm39) |
K395* |
probably null |
Het |
Eefsec |
C |
G |
6: 88,274,770 (GRCm39) |
W398S |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,115,130 (GRCm39) |
H214L |
probably damaging |
Het |
Esf1 |
T |
C |
2: 140,000,458 (GRCm39) |
I443V |
probably benign |
Het |
Espl1 |
T |
C |
15: 102,231,935 (GRCm39) |
V1984A |
possibly damaging |
Het |
Hip1 |
A |
G |
5: 135,468,983 (GRCm39) |
S280P |
probably damaging |
Het |
Il12rb1 |
C |
T |
8: 71,262,348 (GRCm39) |
|
probably null |
Het |
Itgax |
T |
A |
7: 127,732,890 (GRCm39) |
C255S |
probably benign |
Het |
Kifc5b |
T |
C |
17: 27,143,746 (GRCm39) |
V506A |
probably damaging |
Het |
Klf3 |
A |
G |
5: 64,980,372 (GRCm39) |
E54G |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
Mctp1 |
A |
G |
13: 76,836,744 (GRCm39) |
I104V |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,676,843 (GRCm39) |
E552G |
possibly damaging |
Het |
Mpc1 |
A |
G |
17: 8,515,788 (GRCm39) |
E160G |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,590,293 (GRCm39) |
I76N |
probably damaging |
Het |
Myh7b |
A |
T |
2: 155,470,563 (GRCm39) |
I1032F |
probably benign |
Het |
Olfml2a |
G |
A |
2: 38,849,780 (GRCm39) |
V499I |
probably damaging |
Het |
Or2h1 |
T |
A |
17: 37,404,158 (GRCm39) |
I203F |
probably benign |
Het |
Or4f58 |
A |
T |
2: 111,851,764 (GRCm39) |
L145* |
probably null |
Het |
Or5b105 |
A |
G |
19: 13,080,431 (GRCm39) |
V79A |
probably benign |
Het |
P2ry12 |
A |
G |
3: 59,124,754 (GRCm39) |
L307P |
probably damaging |
Het |
Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
Phox2b |
A |
G |
5: 67,255,044 (GRCm39) |
I135T |
possibly damaging |
Het |
Poln |
C |
T |
5: 34,286,857 (GRCm39) |
A104T |
probably benign |
Het |
Prkce |
A |
G |
17: 86,798,237 (GRCm39) |
D342G |
probably benign |
Het |
Ptchd3 |
T |
A |
11: 121,733,764 (GRCm39) |
F885I |
possibly damaging |
Het |
Rcbtb2 |
A |
T |
14: 73,414,490 (GRCm39) |
S434C |
probably damaging |
Het |
Rfc1 |
A |
G |
5: 65,451,020 (GRCm39) |
V356A |
probably benign |
Het |
Rln1 |
A |
G |
19: 29,311,902 (GRCm39) |
F32S |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,677,269 (GRCm39) |
L3194P |
possibly damaging |
Het |
Sat2 |
T |
C |
11: 69,513,353 (GRCm39) |
V34A |
probably damaging |
Het |
Scgb3a2 |
T |
C |
18: 43,899,784 (GRCm39) |
I24T |
possibly damaging |
Het |
Slc35e2 |
T |
G |
4: 155,697,104 (GRCm39) |
V206G |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,552,125 (GRCm39) |
M890L |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,887,703 (GRCm39) |
L2042P |
probably damaging |
Het |
Ssbp1 |
T |
A |
6: 40,451,600 (GRCm39) |
V9E |
probably damaging |
Het |
Tbc1d23 |
C |
T |
16: 56,998,379 (GRCm39) |
V520M |
probably damaging |
Het |
Thumpd2 |
T |
C |
17: 81,361,617 (GRCm39) |
E203G |
probably benign |
Het |
Tlr11 |
A |
G |
14: 50,600,135 (GRCm39) |
D707G |
probably damaging |
Het |
Tlr12 |
T |
A |
4: 128,509,847 (GRCm39) |
D801V |
probably damaging |
Het |
Tnrc6b |
T |
G |
15: 80,763,525 (GRCm39) |
N342K |
possibly damaging |
Het |
Vmn1r191 |
A |
C |
13: 22,362,918 (GRCm39) |
F279V |
probably benign |
Het |
Vmn2r13 |
A |
T |
5: 109,304,540 (GRCm39) |
C630* |
probably null |
Het |
Zbtb1 |
C |
T |
12: 76,432,665 (GRCm39) |
T217I |
probably damaging |
Het |
Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
C |
T |
11: 72,786,097 (GRCm39) |
P2090S |
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 |
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'- CACAGTGTTCCCAGATAATGCAG -3'
(R):5'- CCACAAGCATTTCTGTTGGTGAC -3'
Sequencing Primer
(F):5'- GTGTTCCCAGATAATGCAGAAAATG -3'
(R):5'- AAGGGGCTGCCATCTATGTATCAC -3'
|
Posted On |
2018-05-21 |