Incidental Mutation 'R3906:Ddi2'
| ID |
474494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddi2
|
| Ensembl Gene |
ENSMUSG00000078515 |
| Gene Name |
DNA-damage inducible protein 2 |
| Synonyms |
1110056G13Rik, 1700027M01Rik, 9130022E05Rik |
| MMRRC Submission |
040813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
R3906 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141410874-141450730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141411592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 440
(D440G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102484]
[ENSMUST00000105782]
[ENSMUST00000177592]
|
| AlphaFold |
A2ADY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102484
|
| SMART Domains |
Protein: ENSMUSP00000099542
Gene: ENSMUSG00000078515
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ubiquitin
|
10 |
79 |
3.1e-9 |
PFAM |
|
low complexity region
|
177 |
189 |
N/A |
INTRINSIC |
|
Pfam:Asp_protease
|
212 |
335 |
9.2e-65 |
PFAM |
|
Pfam:RVP_2
|
219 |
348 |
3.7e-8 |
PFAM |
|
Pfam:RVP
|
236 |
335 |
3.5e-8 |
PFAM |
|
Pfam:Asp_protease_2
|
238 |
326 |
2.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105782
AA Change: D440G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101408
Gene: ENSMUSG00000040715
AA Change: D440G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
315 |
320 |
N/A |
INTRINSIC |
|
UBA
|
538 |
575 |
8.12e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177592
AA Change: D440G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515
AA Change: D440G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
315 |
320 |
N/A |
INTRINSIC |
|
UBA
|
538 |
575 |
8.12e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,067,151 (GRCm39) |
V1352A |
possibly damaging |
Het |
| Abcb7 |
G |
T |
X: 103,327,765 (GRCm39) |
Q715K |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Cd1d1 |
A |
G |
3: 86,906,063 (GRCm39) |
W71R |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,103,427 (GRCm39) |
F397L |
probably damaging |
Het |
| Ces2a |
A |
G |
8: 105,465,940 (GRCm39) |
I325V |
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,186,585 (GRCm39) |
V140M |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,754,926 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
G |
A |
18: 20,671,556 (GRCm39) |
G754R |
probably damaging |
Het |
| Endod1 |
T |
A |
9: 14,292,151 (GRCm39) |
Y39F |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Fpr2 |
A |
G |
17: 18,113,811 (GRCm39) |
K269R |
probably benign |
Het |
| Frk |
T |
G |
10: 34,460,052 (GRCm39) |
L216V |
probably benign |
Het |
| Gan |
G |
A |
8: 117,920,873 (GRCm39) |
V370M |
probably damaging |
Het |
| Grik1 |
A |
G |
16: 87,803,337 (GRCm39) |
I285T |
probably benign |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,103,565 (GRCm39) |
Y405N |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Kif26a |
T |
A |
12: 112,143,324 (GRCm39) |
S1193T |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
| Lrrk1 |
G |
T |
7: 65,944,651 (GRCm39) |
T653K |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,046,922 (GRCm39) |
Y182C |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,194,412 (GRCm39) |
D739G |
probably benign |
Het |
| Ninl |
T |
C |
2: 150,822,039 (GRCm39) |
D21G |
probably damaging |
Het |
| Or11g27 |
C |
T |
14: 50,771,211 (GRCm39) |
T114I |
probably benign |
Het |
| Or9i16 |
C |
T |
19: 13,865,070 (GRCm39) |
C168Y |
probably damaging |
Het |
| Pacsin2 |
A |
C |
15: 83,263,256 (GRCm39) |
V125G |
probably damaging |
Het |
| Pfas |
G |
A |
11: 68,879,112 (GRCm39) |
|
probably benign |
Het |
| Pla2g4f |
C |
T |
2: 120,130,980 (GRCm39) |
R825Q |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,435,209 (GRCm39) |
V506E |
possibly damaging |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,753,095 (GRCm39) |
D1742V |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,235,466 (GRCm39) |
|
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,772 (GRCm39) |
T378A |
probably benign |
Het |
|
| Other mutations in Ddi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01916:Ddi2
|
APN |
4 |
141,422,709 (GRCm39) |
splice site |
probably benign |
|
|
IGL02012:Ddi2
|
APN |
4 |
141,435,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02281:Ddi2
|
APN |
4 |
141,419,730 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02395:Ddi2
|
APN |
4 |
141,422,725 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03103:Ddi2
|
APN |
4 |
141,430,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03220:Ddi2
|
APN |
4 |
141,435,767 (GRCm39) |
missense |
probably benign |
|
|
R0350:Ddi2
|
UTSW |
4 |
141,412,834 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0467:Ddi2
|
UTSW |
4 |
141,412,495 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0577:Ddi2
|
UTSW |
4 |
141,411,818 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1706:Ddi2
|
UTSW |
4 |
141,411,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1801:Ddi2
|
UTSW |
4 |
141,411,283 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1839:Ddi2
|
UTSW |
4 |
141,440,837 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1878:Ddi2
|
UTSW |
4 |
141,411,460 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2113:Ddi2
|
UTSW |
4 |
141,430,591 (GRCm39) |
splice site |
probably null |
|
|
R3907:Ddi2
|
UTSW |
4 |
141,411,592 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3908:Ddi2
|
UTSW |
4 |
141,411,592 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4911:Ddi2
|
UTSW |
4 |
141,411,713 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5296:Ddi2
|
UTSW |
4 |
141,412,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5383:Ddi2
|
UTSW |
4 |
141,412,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:Ddi2
|
UTSW |
4 |
141,412,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5874:Ddi2
|
UTSW |
4 |
141,422,780 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6359:Ddi2
|
UTSW |
4 |
141,411,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6603:Ddi2
|
UTSW |
4 |
141,411,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6991:Ddi2
|
UTSW |
4 |
141,412,561 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7108:Ddi2
|
UTSW |
4 |
141,433,248 (GRCm39) |
missense |
probably benign |
|
|
R7838:Ddi2
|
UTSW |
4 |
141,412,561 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8935:Ddi2
|
UTSW |
4 |
141,412,600 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9015:Ddi2
|
UTSW |
4 |
141,412,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9095:Ddi2
|
UTSW |
4 |
141,419,590 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9709:Ddi2
|
UTSW |
4 |
141,412,429 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9711:Ddi2
|
UTSW |
4 |
141,422,734 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9760:Ddi2
|
UTSW |
4 |
141,411,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Ddi2
|
UTSW |
4 |
141,440,784 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation