Incidental Mutation 'R0094:Ddias'
| ID |
17009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddias
|
| Ensembl Gene |
ENSMUSG00000030641 |
| Gene Name |
DNA damage-induced apoptosis suppressor |
| Synonyms |
4632434I11Rik, noxin |
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
92506734-92523455 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92509108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 269
(N269S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032877]
[ENSMUST00000208356]
[ENSMUST00000209074]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032877
AA Change: N269S
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032877
Gene: ENSMUSG00000030641
AA Change: N269S
| 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 |
0.1554 |
| Coding Region Coverage |
- 1x: 84.5%
- 3x: 75.9%
- 10x: 43.5%
- 20x: 12.9%
|
| Validation Efficiency |
86% (51/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,203,427 (GRCm39) |
|
probably benign |
Het |
| 4930432E11Rik |
A |
G |
7: 29,260,236 (GRCm39) |
|
noncoding transcript |
Het |
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,277,171 (GRCm39) |
D2034E |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,655 (GRCm39) |
R178G |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Ctsj |
A |
C |
13: 61,151,519 (GRCm39) |
|
probably null |
Het |
| Dap3 |
T |
A |
3: 88,834,335 (GRCm39) |
M294L |
probably benign |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Eif2b1 |
A |
G |
5: 124,709,829 (GRCm39) |
F250L |
probably benign |
Het |
| Emc1 |
T |
A |
4: 139,087,796 (GRCm39) |
F100Y |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,065,344 (GRCm39) |
M112L |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,078,917 (GRCm39) |
Y445C |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,172,042 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,846,200 (GRCm39) |
Y897H |
probably damaging |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Mybpc2 |
A |
G |
7: 44,166,328 (GRCm39) |
Y221H |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,344,468 (GRCm39) |
I2323N |
possibly damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Otol1 |
G |
A |
3: 69,926,016 (GRCm39) |
A64T |
probably benign |
Het |
| Pcdh8 |
G |
T |
14: 80,005,588 (GRCm39) |
D933E |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rad54b |
T |
C |
4: 11,599,681 (GRCm39) |
V72A |
possibly damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,016,338 (GRCm39) |
|
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Serping1 |
T |
G |
2: 84,603,620 (GRCm39) |
R140S |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,221,310 (GRCm39) |
F252S |
probably benign |
Het |
| Spata45 |
A |
G |
1: 190,772,059 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,896,635 (GRCm39) |
S1174P |
probably benign |
Het |
| Ss18l2 |
T |
C |
9: 121,541,699 (GRCm39) |
L64P |
probably benign |
Het |
| Tmem81 |
A |
G |
1: 132,435,787 (GRCm39) |
I198V |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,894,929 (GRCm38) |
|
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,708,791 (GRCm39) |
T130I |
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 |
|
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 |
|
R6666:Ddias
|
UTSW |
7 |
92,507,289 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2013-01-20 |
Incidental Mutation