Incidental Mutation 'I0000:Ddias'
ID |
17531 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ddias
|
Ensembl Gene |
ENSMUSG00000030641 |
Gene Name |
DNA damage-induced apoptosis suppressor |
Synonyms |
4632434I11Rik, noxin |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
I0000 (G3)
of strain
635
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
92506734-92523455 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92515848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 15
(V15A)
|
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: V15A
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000032877 Gene: ENSMUSG00000030641 AA Change: V15A
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 |
noncoding transcript
Transcript: ENSMUST00000207931
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208356
AA Change: V15A
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209074
AA Change: V15A
PolyPhen 2
Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
|
Validation Efficiency |
67% (62/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
C |
5: 114,376,716 (GRCm39) |
V1933A |
probably damaging |
Het |
Acsm4 |
T |
A |
7: 119,310,415 (GRCm39) |
F467I |
probably damaging |
Het |
Ankrd55 |
A |
T |
13: 112,485,259 (GRCm39) |
|
probably benign |
Het |
Bfsp1 |
T |
C |
2: 143,687,888 (GRCm39) |
Y179C |
probably damaging |
Het |
Ccdc61 |
A |
G |
7: 18,637,474 (GRCm39) |
I51T |
probably damaging |
Het |
Ccdc81 |
A |
G |
7: 89,547,259 (GRCm39) |
L43P |
probably damaging |
Het |
Dpp6 |
A |
T |
5: 27,603,920 (GRCm39) |
T62S |
probably benign |
Het |
Ereg |
G |
A |
5: 91,237,068 (GRCm39) |
C129Y |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,888,688 (GRCm39) |
G2745S |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,528,540 (GRCm39) |
|
probably benign |
Het |
Herc2 |
T |
A |
7: 55,786,477 (GRCm39) |
|
probably benign |
Het |
Hsd17b4 |
A |
G |
18: 50,293,295 (GRCm39) |
D278G |
probably benign |
Homo |
Ifitm3 |
A |
G |
7: 140,590,441 (GRCm39) |
S40P |
possibly damaging |
Het |
Klf5 |
C |
T |
14: 99,540,911 (GRCm39) |
T307M |
probably damaging |
Homo |
Lnpep |
A |
T |
17: 17,799,233 (GRCm39) |
C141S |
probably damaging |
Homo |
Mmp19 |
A |
T |
10: 128,634,329 (GRCm39) |
D362V |
probably benign |
Het |
Or4a72 |
T |
C |
2: 89,405,497 (GRCm39) |
Y191C |
probably damaging |
Het |
Pnpla6 |
G |
A |
8: 3,592,322 (GRCm39) |
A1222T |
probably benign |
Het |
Rbm26 |
C |
A |
14: 105,391,003 (GRCm39) |
R161L |
unknown |
Homo |
Selenon |
G |
A |
4: 134,270,012 (GRCm39) |
|
probably benign |
Het |
Septin11 |
A |
G |
5: 93,313,118 (GRCm39) |
T322A |
probably benign |
Het |
Sh3bp4 |
T |
A |
1: 89,065,518 (GRCm39) |
D37E |
probably benign |
Het |
Tango2 |
G |
A |
16: 18,130,530 (GRCm39) |
R80W |
possibly damaging |
Homo |
Tjap1 |
C |
T |
17: 46,569,955 (GRCm39) |
C345Y |
probably damaging |
Homo |
Wdr62 |
T |
C |
7: 29,944,752 (GRCm39) |
D455G |
probably benign |
Het |
Zbtb48 |
A |
G |
4: 152,104,315 (GRCm39) |
I671T |
probably benign |
Het |
Zfp318 |
T |
C |
17: 46,710,485 (GRCm39) |
L736P |
probably damaging |
Homo |
|
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 |
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 |
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 |
2013-01-31 |