Incidental Mutation 'R1313:Ddi1'
ID |
157997 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ddi1
|
Ensembl Gene |
ENSMUSG00000047619 |
Gene Name |
DNA-damage inducible 1 |
Synonyms |
1700011N24Rik |
MMRRC Submission |
039379-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R1313 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
6265028-6266547 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6265769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 200
(E200G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051706]
[ENSMUST00000058692]
[ENSMUST00000168039]
[ENSMUST00000214892]
|
AlphaFold |
Q9DAF3 |
PDB Structure |
Solution Structure of the Ubiquitin-like Domain from Mouse Hypothetical 1700011N24Rik Protein [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051706
AA Change: E200G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000053223 Gene: ENSMUSG00000047619 AA Change: E200G
Domain | Start | End | E-Value | Type |
UBQ
|
3 |
77 |
4.57e-1 |
SMART |
low complexity region
|
111 |
123 |
N/A |
INTRINSIC |
low complexity region
|
191 |
202 |
N/A |
INTRINSIC |
Pfam:Asp_protease
|
226 |
349 |
3.3e-63 |
PFAM |
Pfam:RVP_2
|
229 |
362 |
3.6e-8 |
PFAM |
Pfam:RVP
|
250 |
349 |
2.5e-8 |
PFAM |
Pfam:Asp_protease_2
|
252 |
340 |
1.6e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058692
|
SMART Domains |
Protein: ENSMUSP00000056240 Gene: ENSMUSG00000032006
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
CUB
|
48 |
164 |
5.38e-25 |
SMART |
PDGF
|
265 |
358 |
4.58e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168039
|
SMART Domains |
Protein: ENSMUSP00000128388 Gene: ENSMUSG00000032006
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
CUB
|
54 |
170 |
5.38e-25 |
SMART |
PDGF
|
271 |
364 |
4.58e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214892
|
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.1%
- 10x: 91.4%
- 20x: 77.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankle1 |
A |
G |
8: 71,859,857 (GRCm39) |
E145G |
possibly damaging |
Het |
Bltp2 |
A |
G |
11: 78,156,498 (GRCm39) |
T226A |
probably benign |
Het |
C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
Cep250 |
C |
T |
2: 155,813,999 (GRCm39) |
A589V |
probably damaging |
Het |
Clhc1 |
A |
G |
11: 29,521,678 (GRCm39) |
I404V |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 50,011,550 (GRCm39) |
S1236P |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,561,133 (GRCm39) |
I550V |
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hnrnpul1 |
G |
T |
7: 25,422,341 (GRCm39) |
|
probably benign |
Het |
Ints1 |
T |
C |
5: 139,748,661 (GRCm39) |
T1049A |
probably benign |
Het |
Lilrb4b |
C |
T |
10: 51,356,832 (GRCm39) |
T6I |
probably benign |
Het |
Mocs1 |
A |
T |
17: 49,761,297 (GRCm39) |
T464S |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,775,955 (GRCm39) |
S816P |
probably damaging |
Het |
Ogfr |
T |
C |
2: 180,236,423 (GRCm39) |
L336P |
probably benign |
Het |
Or5p53 |
A |
T |
7: 107,532,975 (GRCm39) |
M83L |
probably benign |
Het |
Psapl1 |
C |
A |
5: 36,362,610 (GRCm39) |
Q401K |
probably benign |
Het |
Sh3rf3 |
C |
A |
10: 58,907,821 (GRCm39) |
Q450K |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Stat1 |
C |
T |
1: 52,195,165 (GRCm39) |
T720I |
probably damaging |
Het |
|
Other mutations in Ddi1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01309:Ddi1
|
APN |
9 |
6,265,773 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01977:Ddi1
|
APN |
9 |
6,266,226 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02260:Ddi1
|
APN |
9 |
6,265,760 (GRCm39) |
missense |
probably benign |
|
IGL02543:Ddi1
|
APN |
9 |
6,266,183 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02678:Ddi1
|
APN |
9 |
6,266,106 (GRCm39) |
missense |
probably benign |
|
R0482:Ddi1
|
UTSW |
9 |
6,266,144 (GRCm39) |
missense |
probably damaging |
0.96 |
R1313:Ddi1
|
UTSW |
9 |
6,265,769 (GRCm39) |
missense |
probably damaging |
0.99 |
R1588:Ddi1
|
UTSW |
9 |
6,265,391 (GRCm39) |
missense |
probably damaging |
0.98 |
R1605:Ddi1
|
UTSW |
9 |
6,266,012 (GRCm39) |
missense |
probably benign |
0.02 |
R1671:Ddi1
|
UTSW |
9 |
6,266,225 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4237:Ddi1
|
UTSW |
9 |
6,265,799 (GRCm39) |
missense |
probably benign |
0.00 |
R4239:Ddi1
|
UTSW |
9 |
6,265,799 (GRCm39) |
missense |
probably benign |
0.00 |
R4240:Ddi1
|
UTSW |
9 |
6,265,799 (GRCm39) |
missense |
probably benign |
0.00 |
R4588:Ddi1
|
UTSW |
9 |
6,266,003 (GRCm39) |
missense |
probably benign |
0.15 |
R4790:Ddi1
|
UTSW |
9 |
6,265,761 (GRCm39) |
missense |
probably benign |
0.00 |
R4950:Ddi1
|
UTSW |
9 |
6,266,073 (GRCm39) |
missense |
probably benign |
0.04 |
R5626:Ddi1
|
UTSW |
9 |
6,266,003 (GRCm39) |
missense |
probably benign |
|
R7413:Ddi1
|
UTSW |
9 |
6,265,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R8052:Ddi1
|
UTSW |
9 |
6,265,787 (GRCm39) |
missense |
probably benign |
|
R8260:Ddi1
|
UTSW |
9 |
6,265,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R8285:Ddi1
|
UTSW |
9 |
6,265,808 (GRCm39) |
missense |
probably benign |
0.00 |
R8356:Ddi1
|
UTSW |
9 |
6,266,249 (GRCm39) |
missense |
probably benign |
0.09 |
R8885:Ddi1
|
UTSW |
9 |
6,266,198 (GRCm39) |
missense |
probably benign |
0.44 |
R9564:Ddi1
|
UTSW |
9 |
6,265,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGAACGCGGCCCATAATCCTC -3'
(R):5'- GACCTTTGCTCAGGAACTCGACAG -3'
Sequencing Primer
(F):5'- CATGATAGTCATCTGGGCACC -3'
(R):5'- AGGAACTCGACAGCCCTG -3'
|
Posted On |
2014-02-18 |