Incidental Mutation 'R2110:Dthd1'
| ID |
232445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dthd1
|
| Ensembl Gene |
ENSMUSG00000090326 |
| Gene Name |
death domain containing 1 |
| Synonyms |
Gm17384 |
| MMRRC Submission |
040114-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R2110 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
62969017-63045651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63000222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 515
(S515P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170704]
|
| AlphaFold |
A0A571BG01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170704
AA Change: S515P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131534
Gene: ENSMUSG00000090326
AA Change: S515P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Death
|
693 |
778 |
4.2e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330161L09Rik |
T |
C |
12: 103,373,848 (GRCm39) |
|
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,032,245 (GRCm39) |
D638G |
possibly damaging |
Het |
| Adam1b |
A |
G |
5: 121,638,777 (GRCm39) |
|
probably benign |
Het |
| Aim2 |
T |
C |
1: 173,287,279 (GRCm39) |
M93T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,151 (GRCm39) |
E414G |
possibly damaging |
Het |
| Ap1b1 |
T |
C |
11: 4,965,613 (GRCm39) |
F51L |
probably damaging |
Het |
| Bard1 |
T |
A |
1: 71,114,550 (GRCm39) |
K144* |
probably null |
Het |
| Begain |
G |
T |
12: 108,999,843 (GRCm39) |
Y514* |
probably null |
Het |
| Ccdc186 |
A |
T |
19: 56,788,574 (GRCm39) |
I545N |
possibly damaging |
Het |
| Cfap251 |
G |
A |
5: 123,392,438 (GRCm39) |
|
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,824,197 (GRCm39) |
Y58C |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,722,229 (GRCm39) |
D2437E |
unknown |
Het |
| Chd2 |
A |
G |
7: 73,079,735 (GRCm39) |
S1722P |
probably benign |
Het |
| Clec5a |
C |
T |
6: 40,562,137 (GRCm39) |
G9E |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,585,214 (GRCm39) |
Y292C |
possibly damaging |
Het |
| Col3a1 |
C |
T |
1: 45,369,305 (GRCm39) |
P331S |
unknown |
Het |
| Ctsk |
T |
C |
3: 95,413,988 (GRCm39) |
I245T |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,059,431 (GRCm39) |
S493F |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,174,699 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
C |
T |
3: 95,643,254 (GRCm39) |
A349T |
probably benign |
Het |
| Efemp2 |
A |
G |
19: 5,525,190 (GRCm39) |
E32G |
probably damaging |
Het |
| Flt4 |
C |
A |
11: 49,516,131 (GRCm39) |
T78K |
probably benign |
Het |
| Foxg1 |
A |
G |
12: 49,431,708 (GRCm39) |
|
probably benign |
Het |
| Fv1 |
T |
C |
4: 147,954,619 (GRCm39) |
V395A |
possibly damaging |
Het |
| Gcfc2 |
C |
A |
6: 81,900,759 (GRCm39) |
D24E |
probably benign |
Het |
| Gpha2 |
T |
G |
19: 6,277,532 (GRCm39) |
V96G |
probably damaging |
Het |
| Gse1 |
A |
G |
8: 121,293,719 (GRCm39) |
Y228C |
probably damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,288,458 (GRCm39) |
R470G |
possibly damaging |
Het |
| Ildr1 |
A |
G |
16: 36,542,341 (GRCm39) |
E247G |
probably damaging |
Het |
| Ktn1 |
T |
A |
14: 47,931,345 (GRCm39) |
M646K |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,388,648 (GRCm39) |
H2259L |
unknown |
Het |
| Map1b |
A |
T |
13: 99,567,629 (GRCm39) |
H1697Q |
unknown |
Het |
| Mdn1 |
A |
G |
4: 32,700,409 (GRCm39) |
E1456G |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,095,248 (GRCm39) |
T467I |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
| Ncoa5 |
C |
A |
2: 164,854,838 (GRCm39) |
D95Y |
possibly damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,678,879 (GRCm39) |
C836* |
probably null |
Het |
| Nr3c2 |
T |
C |
8: 77,635,156 (GRCm39) |
S86P |
possibly damaging |
Het |
| Nup153 |
A |
G |
13: 46,837,404 (GRCm39) |
S1273P |
probably benign |
Het |
| Or8g52 |
G |
A |
9: 39,631,018 (GRCm39) |
R165Q |
probably benign |
Het |
| Pcsk5 |
C |
A |
19: 17,450,423 (GRCm39) |
G1142C |
probably damaging |
Het |
| Pgghg |
A |
G |
7: 140,523,453 (GRCm39) |
D244G |
possibly damaging |
Het |
| Polr1has |
T |
C |
17: 37,276,336 (GRCm39) |
V306A |
possibly damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,444,321 (GRCm39) |
P297S |
probably benign |
Het |
| Rad52 |
A |
T |
6: 119,897,855 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Rhpn1 |
T |
A |
15: 75,585,083 (GRCm39) |
F507I |
probably damaging |
Het |
| Rhpn2 |
T |
C |
7: 35,076,433 (GRCm39) |
M328T |
probably benign |
Het |
| Rnf19a |
T |
C |
15: 36,254,665 (GRCm39) |
I298V |
possibly damaging |
Het |
| Rwdd2a |
T |
C |
9: 86,456,184 (GRCm39) |
V120A |
probably benign |
Het |
| Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
| Serpina3a |
G |
A |
12: 104,082,481 (GRCm39) |
A85T |
probably damaging |
Het |
| Slc16a11 |
G |
A |
11: 70,106,146 (GRCm39) |
G80D |
probably damaging |
Het |
| Slc5a5 |
A |
T |
8: 71,342,395 (GRCm39) |
|
probably null |
Het |
| Sparcl1 |
T |
A |
5: 104,236,289 (GRCm39) |
Q488L |
probably damaging |
Het |
| Spg21 |
T |
A |
9: 65,391,711 (GRCm39) |
|
probably null |
Het |
| Spopfm2 |
A |
G |
3: 94,082,834 (GRCm39) |
S326P |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,662,901 (GRCm39) |
H253R |
unknown |
Het |
| Swt1 |
A |
G |
1: 151,279,636 (GRCm39) |
S391P |
probably damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,033,888 (GRCm39) |
Y200C |
probably damaging |
Het |
| Utp15 |
T |
C |
13: 98,391,493 (GRCm39) |
H248R |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,603,313 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,841,422 (GRCm39) |
D414V |
probably damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,179 (GRCm39) |
M146K |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,685,453 (GRCm39) |
K399N |
probably damaging |
Het |
| Zfp516 |
A |
G |
18: 82,975,536 (GRCm39) |
D578G |
probably damaging |
Het |
| Zfp90 |
G |
A |
8: 107,152,120 (GRCm39) |
C611Y |
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 |
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 |
|
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'- CTGATCTGAACTGCTTTCTTGAG -3'
(R):5'- CCTCAAAAGAAGTTGTTCTCCTTC -3'
Sequencing Primer
(F):5'- CTTGAGTGTTTCCCTAAAGTACTAC -3'
(R):5'- AAAAGAAGTTGTTCTCCTTCTCTTAC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation