Incidental Mutation 'R0350:Ddi2'
ID |
29646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ddi2
|
Ensembl Gene |
ENSMUSG00000078515 |
Gene Name |
DNA-damage inducible protein 2 |
Synonyms |
1110056G13Rik, 1700027M01Rik, 9130022E05Rik |
MMRRC Submission |
038557-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.946)
|
Stock # |
R0350 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
141410874-141450730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 141412834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 26
(T26M)
|
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: T26M
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000101408 Gene: ENSMUSG00000040715 AA Change: T26M
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: T26M
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000136018 Gene: ENSMUSG00000078515 AA Change: T26M
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: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
T |
A |
8: 10,037,600 (GRCm39) |
Y66N |
probably damaging |
Het |
Apol6 |
C |
T |
15: 76,935,147 (GRCm39) |
Q139* |
probably null |
Het |
Armh1 |
C |
A |
4: 117,072,753 (GRCm39) |
E244* |
probably null |
Het |
Cd1d1 |
A |
T |
3: 86,904,880 (GRCm39) |
H219Q |
probably benign |
Het |
Cdca2 |
A |
G |
14: 67,950,568 (GRCm39) |
L121P |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,607,411 (GRCm39) |
Y255H |
possibly damaging |
Het |
Cog4 |
T |
A |
8: 111,580,328 (GRCm39) |
L133I |
possibly damaging |
Het |
Csf1 |
T |
C |
3: 107,655,922 (GRCm39) |
M370V |
probably benign |
Het |
Dhcr7 |
A |
G |
7: 143,391,507 (GRCm39) |
D32G |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,581,706 (GRCm39) |
V16A |
probably benign |
Het |
Exd1 |
T |
C |
2: 119,354,047 (GRCm39) |
N337S |
possibly damaging |
Het |
Flii |
T |
C |
11: 60,612,683 (GRCm39) |
D227G |
probably damaging |
Het |
Hsf1 |
A |
G |
15: 76,384,679 (GRCm39) |
T485A |
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,884,505 (GRCm39) |
R2614* |
probably null |
Het |
Iqch |
T |
C |
9: 63,408,158 (GRCm39) |
T630A |
probably benign |
Het |
Itgal |
T |
A |
7: 126,921,253 (GRCm39) |
D770E |
probably damaging |
Het |
Mroh1 |
T |
A |
15: 76,316,449 (GRCm39) |
V759E |
probably damaging |
Het |
Mrps17 |
A |
G |
5: 129,795,209 (GRCm39) |
|
probably benign |
Het |
Mtpap |
A |
G |
18: 4,396,195 (GRCm39) |
S496G |
possibly damaging |
Het |
Nkd1 |
T |
A |
8: 89,311,844 (GRCm39) |
Y39* |
probably null |
Het |
Nmd3 |
A |
G |
3: 69,650,907 (GRCm39) |
Y359C |
probably damaging |
Het |
Nr1h3 |
G |
A |
2: 91,022,170 (GRCm39) |
L153F |
possibly damaging |
Het |
Nuf2 |
T |
A |
1: 169,341,112 (GRCm39) |
|
probably null |
Het |
Or4b1b |
T |
C |
2: 90,112,926 (GRCm39) |
|
probably null |
Het |
Or4c113 |
T |
A |
2: 88,885,700 (GRCm39) |
K23N |
probably benign |
Het |
Or8b12i |
A |
T |
9: 20,082,032 (GRCm39) |
Y278* |
probably null |
Het |
Pnn |
T |
C |
12: 59,113,903 (GRCm39) |
|
probably null |
Het |
Ppm1j |
A |
G |
3: 104,690,687 (GRCm39) |
D230G |
probably benign |
Het |
Ppp1r15a |
A |
T |
7: 45,172,442 (GRCm39) |
L650Q |
probably damaging |
Het |
Prss37 |
T |
C |
6: 40,491,893 (GRCm39) |
E229G |
probably damaging |
Het |
Rbm19 |
T |
C |
5: 120,266,372 (GRCm39) |
V465A |
possibly damaging |
Het |
Rubcnl |
G |
T |
14: 75,278,331 (GRCm39) |
V372F |
probably damaging |
Het |
Sema6a |
G |
T |
18: 47,403,785 (GRCm39) |
D595E |
probably benign |
Het |
Slc35c1 |
A |
G |
2: 92,289,377 (GRCm39) |
F43S |
probably damaging |
Het |
Slc39a5 |
C |
T |
10: 128,232,619 (GRCm39) |
|
probably null |
Het |
Slco4c1 |
A |
G |
1: 96,756,574 (GRCm39) |
F583L |
probably benign |
Het |
Sox9 |
A |
G |
11: 112,675,702 (GRCm39) |
Y297C |
probably damaging |
Het |
Taf1b |
A |
G |
12: 24,564,884 (GRCm39) |
D167G |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,861,321 (GRCm39) |
|
probably null |
Het |
Uba6 |
A |
C |
5: 86,292,237 (GRCm39) |
V402G |
possibly damaging |
Het |
Usp43 |
T |
C |
11: 67,767,324 (GRCm39) |
Y682C |
probably damaging |
Het |
Vmn1r195 |
A |
G |
13: 22,463,403 (GRCm39) |
D291G |
probably damaging |
Het |
Xpr1 |
A |
T |
1: 155,206,214 (GRCm39) |
F156Y |
probably damaging |
Het |
Yju2b |
C |
T |
8: 84,987,277 (GRCm39) |
E99K |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,724,124 (GRCm39) |
H2042Q |
probably benign |
Het |
Zfp937 |
T |
A |
2: 150,081,222 (GRCm39) |
D417E |
possibly damaging |
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 |
|
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 |
|
R3906:Ddi2
|
UTSW |
4 |
141,411,592 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
PCR Primer
(F):5'- GAAAGGCATGGCTAGACTCTGCTC -3'
(R):5'- AGTGACAGATGCTACCTTGCCACC -3'
Sequencing Primer
(F):5'- ACTCTGCTCTGCTGAGGAAG -3'
(R):5'- TGCCGACTTCAGATGGGTTT -3'
|
Posted On |
2013-04-24 |