Incidental Mutation 'R6733:Dedd2'
| ID |
530142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dedd2
|
| Ensembl Gene |
ENSMUSG00000054499 |
| Gene Name |
death effector domain-containing DNA binding protein 2 |
| Synonyms |
FLAME-3, 2410050E11Rik |
| MMRRC Submission |
044851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R6733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24899337-24920035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24903332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 209
(E209G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058702]
[ENSMUST00000205271]
|
| AlphaFold |
Q8QZV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058702
AA Change: E209G
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049763
Gene: ENSMUSG00000054499
AA Change: E209G
| Domain | Start | End | E-Value | Type |
|---|
|
DED
|
24 |
104 |
6.34e-13 |
SMART |
|
low complexity region
|
130 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205271
AA Change: E209G
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206750
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
| Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
| Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
| Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
| H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
| Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
| Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
| Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
| Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
| Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
| Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
| Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dedd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0346:Dedd2
|
UTSW |
7 |
24,910,694 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0480:Dedd2
|
UTSW |
7 |
24,903,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Dedd2
|
UTSW |
7 |
24,910,612 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5000:Dedd2
|
UTSW |
7 |
24,903,068 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5085:Dedd2
|
UTSW |
7 |
24,918,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6082:Dedd2
|
UTSW |
7 |
24,910,715 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6083:Dedd2
|
UTSW |
7 |
24,910,715 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6084:Dedd2
|
UTSW |
7 |
24,910,715 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6264:Dedd2
|
UTSW |
7 |
24,903,215 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6646:Dedd2
|
UTSW |
7 |
24,903,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Dedd2
|
UTSW |
7 |
24,918,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8465:Dedd2
|
UTSW |
7 |
24,918,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8807:Dedd2
|
UTSW |
7 |
24,910,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9068:Dedd2
|
UTSW |
7 |
24,917,092 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Dedd2
|
UTSW |
7 |
24,903,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCGTAAAGCCTCAGTCAG -3'
(R):5'- AGGCTGCCTTGTGATTCAGG -3'
Sequencing Primer
(F):5'- TCAGGTAGTCGCCCCAGAAG -3'
(R):5'- CCTTGTGATTCAGGGAGTTGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation