Incidental Mutation 'R5355:Dthd1'
| ID |
424032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dthd1
|
| Ensembl Gene |
ENSMUSG00000090326 |
| Gene Name |
death domain containing 1 |
| Synonyms |
Gm17384 |
| MMRRC Submission |
042934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R5355 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
62969017-63045651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 62996730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 488
(L488F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170704]
|
| AlphaFold |
A0A571BG01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170704
AA Change: L488F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131534
Gene: ENSMUSG00000090326
AA Change: L488F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Death
|
693 |
778 |
4.2e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
94% (50/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,776,873 (GRCm39) |
L857P |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,489,671 (GRCm39) |
*582W |
probably null |
Het |
| Adra1d |
A |
G |
2: 131,403,007 (GRCm39) |
V361A |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,737,698 (GRCm39) |
|
probably benign |
Het |
| Atxn10 |
T |
A |
15: 85,346,515 (GRCm39) |
N424K |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,637,860 (GRCm39) |
T111A |
probably benign |
Het |
| Ccdc168 |
A |
C |
1: 44,097,139 (GRCm39) |
C1320G |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdr2l |
T |
C |
11: 115,284,396 (GRCm39) |
V244A |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,270,775 (GRCm39) |
M468V |
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,495,984 (GRCm39) |
R1535H |
probably damaging |
Het |
| Cryab |
A |
T |
9: 50,664,751 (GRCm39) |
S59C |
probably damaging |
Het |
| Cuzd1 |
G |
A |
7: 130,917,853 (GRCm39) |
T249I |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,617,392 (GRCm39) |
V129M |
probably benign |
Het |
| Dlg2 |
G |
T |
7: 91,099,011 (GRCm39) |
R31L |
probably benign |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| Fat2 |
T |
G |
11: 55,172,992 (GRCm39) |
I2574L |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,231,247 (GRCm39) |
D1610G |
probably damaging |
Het |
| Gm10330 |
T |
A |
12: 23,830,131 (GRCm39) |
N17Y |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,239 (GRCm39) |
R640* |
probably null |
Het |
| H2bc13 |
A |
T |
13: 21,900,030 (GRCm39) |
I95N |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,675,699 (GRCm39) |
S71T |
probably benign |
Het |
| Isoc2b |
A |
G |
7: 4,852,357 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
G |
T |
10: 77,393,886 (GRCm39) |
R442L |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,823,444 (GRCm39) |
N2658K |
possibly damaging |
Het |
| Lemd3 |
A |
T |
10: 120,769,538 (GRCm39) |
I598K |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,285,182 (GRCm39) |
C3825* |
probably null |
Het |
| Mep1a |
T |
C |
17: 43,788,037 (GRCm39) |
D673G |
probably damaging |
Het |
| Met |
A |
G |
6: 17,491,361 (GRCm39) |
Y41C |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,979,035 (GRCm39) |
V99A |
probably damaging |
Het |
| Mmadhc |
A |
G |
2: 50,181,436 (GRCm39) |
I78T |
probably benign |
Het |
| Mmp9 |
C |
A |
2: 164,792,912 (GRCm39) |
P389T |
possibly damaging |
Het |
| Mvk |
T |
G |
5: 114,590,499 (GRCm39) |
S7A |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,015,077 (GRCm39) |
T58S |
probably benign |
Het |
| Nlrp1c-ps |
C |
A |
11: 71,148,839 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h3 |
A |
G |
2: 91,022,253 (GRCm39) |
I125T |
possibly damaging |
Het |
| Or2a55-ps1 |
C |
T |
6: 43,071,598 (GRCm39) |
|
noncoding transcript |
Het |
| Or8k39 |
A |
T |
2: 86,563,680 (GRCm39) |
I92K |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,485,886 (GRCm39) |
I3T |
possibly damaging |
Het |
| Parp8 |
A |
G |
13: 116,998,740 (GRCm39) |
|
probably null |
Het |
| Parva |
T |
C |
7: 112,143,475 (GRCm39) |
|
probably null |
Het |
| Pwp2 |
A |
C |
10: 78,011,378 (GRCm39) |
I672M |
possibly damaging |
Het |
| Sfswap |
C |
T |
5: 129,616,810 (GRCm39) |
T418I |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,709,078 (GRCm39) |
Y334C |
probably damaging |
Het |
| Slc7a13 |
C |
A |
4: 19,839,267 (GRCm39) |
T290K |
probably benign |
Het |
| Spry2 |
A |
G |
14: 106,130,712 (GRCm39) |
L158P |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,847,342 (GRCm39) |
E150G |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,973,769 (GRCm39) |
F134L |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,524,518 (GRCm39) |
F175S |
probably benign |
Het |
| Zscan22 |
C |
A |
7: 12,640,435 (GRCm39) |
N67K |
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 |
|
|
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'- CATCTTTCTATTCTTGACATCAGGG -3'
(R):5'- GCAATCAGAGGAACCATGTCAATTG -3'
Sequencing Primer
(F):5'- TGCTATGCAAATTTTCCCCAC -3'
(R):5'- GTGGTTTGCATTTCTAAGTACACC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation