Incidental Mutation 'R4015:Ddias'
| ID |
311907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddias
|
| Ensembl Gene |
ENSMUSG00000030641 |
| Gene Name |
DNA damage-induced apoptosis suppressor |
| Synonyms |
4632434I11Rik, noxin |
| MMRRC Submission |
040952-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4015 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
92506734-92523455 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92509069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 282
(K282R)
|
| 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: K282R
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000032877
Gene: ENSMUSG00000030641
AA Change: K282R
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
C |
T |
1: 75,151,135 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,358,331 (GRCm39) |
D580G |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,205,793 (GRCm39) |
I898T |
probably damaging |
Het |
| Celf3 |
T |
C |
3: 94,394,505 (GRCm39) |
V202A |
probably benign |
Het |
| Cfap161 |
C |
T |
7: 83,429,479 (GRCm39) |
G180S |
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,442,631 (GRCm39) |
I605V |
probably benign |
Het |
| Coq6 |
A |
G |
12: 84,413,671 (GRCm39) |
H67R |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,461,768 (GRCm39) |
F196S |
probably damaging |
Het |
| Cyp4a14 |
G |
T |
4: 115,348,331 (GRCm39) |
P382Q |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,854,990 (GRCm39) |
Q1965R |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Mocs2 |
T |
C |
13: 114,957,334 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
| Nalcn |
T |
G |
14: 123,723,799 (GRCm39) |
E422A |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,684,547 (GRCm39) |
V338A |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,145,491 (GRCm39) |
S488P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Srcap |
C |
A |
7: 127,124,595 (GRCm39) |
P255Q |
probably benign |
Het |
| Sult6b2 |
T |
A |
6: 142,735,988 (GRCm39) |
N202I |
possibly damaging |
Het |
| Tcf7l1 |
A |
G |
6: 72,613,382 (GRCm39) |
|
probably benign |
Het |
| Tef |
T |
C |
15: 81,707,806 (GRCm39) |
V261A |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,744,187 (GRCm39) |
V2582I |
possibly damaging |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Unc13b |
G |
A |
4: 43,237,801 (GRCm39) |
G3441R |
probably damaging |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
| Zfp867 |
A |
G |
11: 59,354,520 (GRCm39) |
F270L |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCTCGAAGGGTTCTTGC -3'
(R):5'- TCTTAACAACATACAGGGCTCTGG -3'
Sequencing Primer
(F):5'- CCTCGAAGGGTTCTTGCATTTG -3'
(R):5'- CATACAGGGCTCTGGGAATACATC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation