Incidental Mutation 'R5626:Ddi1'
| ID |
441840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddi1
|
| Ensembl Gene |
ENSMUSG00000047619 |
| Gene Name |
DNA-damage inducible 1 |
| Synonyms |
1700011N24Rik |
| MMRRC Submission |
043165-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R5626 (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 6266003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 122
(H122R)
|
| 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 benign
Transcript: ENSMUST00000051706
AA Change: H122R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053223
Gene: ENSMUSG00000047619
AA Change: H122R
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
G |
C |
3: 137,986,171 (GRCm39) |
V53L |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,105,737 (GRCm39) |
Q514* |
probably null |
Het |
| Calhm2 |
A |
C |
19: 47,121,558 (GRCm39) |
C204G |
probably damaging |
Het |
| Carhsp1 |
T |
C |
16: 8,478,897 (GRCm39) |
N119D |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,471,980 (GRCm39) |
L133P |
probably damaging |
Het |
| Clcn4 |
A |
T |
7: 7,292,017 (GRCm39) |
V598E |
probably damaging |
Het |
| Cpxm2 |
TGCAGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAGCAG |
7: 131,661,581 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,607,575 (GRCm39) |
T2697A |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,564 (GRCm39) |
I117F |
probably damaging |
Het |
| Egflam |
A |
G |
15: 7,280,688 (GRCm39) |
S446P |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,036,604 (GRCm39) |
I1922V |
probably damaging |
Het |
| Gpc1 |
T |
A |
1: 92,784,841 (GRCm39) |
|
probably null |
Het |
| Gphn |
A |
C |
12: 78,730,671 (GRCm39) |
I769L |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,053,929 (GRCm39) |
|
probably null |
Het |
| Hira |
G |
T |
16: 18,746,262 (GRCm39) |
Q468H |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,532,318 (GRCm39) |
G3154E |
probably damaging |
Het |
| Ighv16-1 |
G |
A |
12: 114,032,472 (GRCm39) |
T92M |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,943 (GRCm39) |
E380G |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,281,419 (GRCm39) |
F380L |
probably benign |
Het |
| Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
| Ncbp1 |
G |
A |
4: 46,161,290 (GRCm39) |
S422N |
probably damaging |
Het |
| Pcolce |
T |
A |
5: 137,608,661 (GRCm39) |
T26S |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,158 (GRCm39) |
I51V |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,932,643 (GRCm39) |
S1041G |
probably benign |
Het |
| Ppp5c |
T |
C |
7: 16,761,629 (GRCm39) |
D37G |
probably benign |
Het |
| Prkca |
T |
C |
11: 107,948,641 (GRCm39) |
D116G |
possibly damaging |
Het |
| Qrsl1 |
A |
T |
10: 43,757,516 (GRCm39) |
D367E |
probably benign |
Het |
| Rbm26 |
T |
C |
14: 105,381,667 (GRCm39) |
T493A |
probably benign |
Het |
| Saxo1 |
T |
C |
4: 86,363,826 (GRCm39) |
E219G |
probably damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,460,849 (GRCm39) |
|
probably null |
Het |
| Tmem30c |
T |
C |
16: 57,096,506 (GRCm39) |
N205S |
possibly damaging |
Het |
| Trp53i11 |
A |
G |
2: 93,029,723 (GRCm39) |
N119S |
possibly damaging |
Het |
| Wnt3a |
A |
T |
11: 59,181,409 (GRCm39) |
I22N |
probably benign |
Het |
| Zfp998 |
A |
G |
13: 66,580,040 (GRCm39) |
Y148H |
probably benign |
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 |
|
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 |
|
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'- CTCAAGGTTTCCACTAAGCAGAG -3'
(R):5'- TGGAACAGCTCCTCACAGATG -3'
Sequencing Primer
(F):5'- GGTTTCCACTAAGCAGAGCTTCAG -3'
(R):5'- CTGGGCTCCTATGGACTCAAAGATG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation