Incidental Mutation 'R6666:Ddias'
| ID |
526974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddias
|
| Ensembl Gene |
ENSMUSG00000030641 |
| Gene Name |
DNA damage-induced apoptosis suppressor |
| Synonyms |
4632434I11Rik, noxin |
| MMRRC Submission |
044786-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6666 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
92506734-92523455 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92507289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 875
(D875E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032877]
[ENSMUST00000208356]
[ENSMUST00000209074]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032877
AA Change: D875E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032877
Gene: ENSMUSG00000030641
AA Change: D875E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rep_fac-A_C
|
7 |
118 |
2.1e-14 |
PFAM |
|
low complexity region
|
197 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208356
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209074
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
C |
A |
10: 21,469,228 (GRCm39) |
|
probably null |
Het |
| Arhgap24 |
A |
G |
5: 102,700,163 (GRCm39) |
|
probably null |
Het |
| Atp12a |
G |
T |
14: 56,610,821 (GRCm39) |
V322L |
probably benign |
Het |
| Capza1 |
A |
C |
3: 104,735,922 (GRCm39) |
|
probably null |
Het |
| Cela3a |
A |
T |
4: 137,131,175 (GRCm39) |
S188T |
probably benign |
Het |
| Cplx1 |
G |
T |
5: 108,668,031 (GRCm39) |
Y123* |
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,670,172 (GRCm39) |
E715G |
probably benign |
Het |
| Fam83e |
A |
G |
7: 45,376,426 (GRCm39) |
T380A |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,562,470 (GRCm39) |
V1270A |
probably damaging |
Het |
| Foxh1 |
A |
G |
15: 76,552,613 (GRCm39) |
F367S |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gprc5a |
A |
G |
6: 135,056,473 (GRCm39) |
I307V |
probably benign |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,582 (GRCm39) |
D212G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,920,856 (GRCm39) |
V1029A |
probably damaging |
Het |
| Il22ra1 |
A |
T |
4: 135,477,772 (GRCm39) |
H281L |
probably damaging |
Het |
| Il2rb |
TAGTCA |
TAGTCAGTCA |
15: 78,366,034 (GRCm39) |
|
probably null |
Het |
| Itga3 |
T |
C |
11: 94,956,652 (GRCm39) |
T170A |
probably benign |
Het |
| Kdm3a |
T |
C |
6: 71,588,974 (GRCm39) |
E345G |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,398,214 (GRCm39) |
I680T |
probably benign |
Het |
| Klhl28 |
C |
T |
12: 64,990,301 (GRCm39) |
D547N |
probably benign |
Het |
| Limk2 |
T |
A |
11: 3,310,493 (GRCm39) |
E49D |
probably damaging |
Het |
| Lmbrd2 |
T |
A |
15: 9,151,656 (GRCm39) |
F120I |
probably benign |
Het |
| Mefv |
T |
A |
16: 3,525,862 (GRCm39) |
N802Y |
possibly damaging |
Het |
| Ms4a2 |
C |
T |
19: 11,595,787 (GRCm39) |
S168N |
probably benign |
Het |
| Myct1 |
T |
C |
10: 5,554,333 (GRCm39) |
S67P |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,142,638 (GRCm39) |
E933G |
probably damaging |
Het |
| Naif1 |
C |
A |
2: 32,344,863 (GRCm39) |
T189K |
probably damaging |
Het |
| Nppb |
A |
G |
4: 148,070,463 (GRCm39) |
I11V |
probably benign |
Het |
| Nr3c1 |
T |
C |
18: 39,620,200 (GRCm39) |
D29G |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,618,338 (GRCm39) |
Y782C |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,331 (GRCm39) |
I277F |
probably damaging |
Het |
| Or51e1 |
T |
C |
7: 102,359,135 (GRCm39) |
|
probably null |
Het |
| Or9m1 |
T |
A |
2: 87,733,852 (GRCm39) |
H56L |
probably damaging |
Het |
| Parp1 |
A |
G |
1: 180,413,516 (GRCm39) |
T375A |
probably benign |
Het |
| Pcdhgb1 |
G |
T |
18: 37,814,546 (GRCm39) |
E346* |
probably null |
Het |
| Pds5b |
G |
T |
5: 150,701,631 (GRCm39) |
S754I |
probably damaging |
Het |
| Scnn1g |
G |
A |
7: 121,366,611 (GRCm39) |
D603N |
probably benign |
Het |
| Slitrk5 |
A |
G |
14: 111,917,534 (GRCm39) |
D386G |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,425,083 (GRCm39) |
L493P |
probably damaging |
Het |
| Vrk1 |
A |
G |
12: 106,024,910 (GRCm39) |
E262G |
probably damaging |
Het |
| Wfs1 |
T |
C |
5: 37,124,963 (GRCm39) |
T567A |
possibly damaging |
Het |
| Zbtb11 |
A |
T |
16: 55,826,615 (GRCm39) |
K846I |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,720,140 (GRCm39) |
T1113A |
probably benign |
Het |
| Zfp654 |
A |
T |
16: 64,606,596 (GRCm39) |
S535R |
probably benign |
Het |
|
| Other mutations in Ddias |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02727:Ddias
|
APN |
7 |
92,515,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02820:Ddias
|
APN |
7 |
92,508,551 (GRCm39) |
missense |
probably benign |
0.07 |
|
I0000:Ddias
|
UTSW |
7 |
92,515,848 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0094:Ddias
|
UTSW |
7 |
92,509,108 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0482:Ddias
|
UTSW |
7 |
92,508,736 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0883:Ddias
|
UTSW |
7 |
92,508,545 (GRCm39) |
missense |
probably benign |
|
|
R1131:Ddias
|
UTSW |
7 |
92,509,094 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1722:Ddias
|
UTSW |
7 |
92,509,250 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1758:Ddias
|
UTSW |
7 |
92,508,571 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1937:Ddias
|
UTSW |
7 |
92,507,830 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2067:Ddias
|
UTSW |
7 |
92,508,907 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2124:Ddias
|
UTSW |
7 |
92,507,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2483:Ddias
|
UTSW |
7 |
92,508,800 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3623:Ddias
|
UTSW |
7 |
92,508,800 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3690:Ddias
|
UTSW |
7 |
92,509,366 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4015:Ddias
|
UTSW |
7 |
92,509,069 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4021:Ddias
|
UTSW |
7 |
92,510,686 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4022:Ddias
|
UTSW |
7 |
92,510,686 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4384:Ddias
|
UTSW |
7 |
92,507,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4410:Ddias
|
UTSW |
7 |
92,507,287 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4691:Ddias
|
UTSW |
7 |
92,508,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5653:Ddias
|
UTSW |
7 |
92,507,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Ddias
|
UTSW |
7 |
92,508,773 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7650:Ddias
|
UTSW |
7 |
92,508,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8446:Ddias
|
UTSW |
7 |
92,515,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Ddias
|
UTSW |
7 |
92,508,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8753:Ddias
|
UTSW |
7 |
92,508,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Ddias
|
UTSW |
7 |
92,507,608 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9336:Ddias
|
UTSW |
7 |
92,507,314 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9554:Ddias
|
UTSW |
7 |
92,507,560 (GRCm39) |
missense |
probably benign |
0.22 |
|
X0027:Ddias
|
UTSW |
7 |
92,508,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATTATTCTGAAAAGCCATCCCC -3'
(R):5'- CCTCAGCCTGCTCAAAGAATG -3'
Sequencing Primer
(F):5'- TTATTCTGAAAAGCCATCCCCAACTG -3'
(R):5'- TCAGCCTGCTCAAAGAATGTAAAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation