Incidental Mutation 'IGL02281:Ddi2'
ID |
289827 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ddi2
|
Ensembl Gene |
ENSMUSG00000078515 |
Gene Name |
DNA-damage inducible protein 2 |
Synonyms |
1110056G13Rik, 1700027M01Rik, 9130022E05Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.942)
|
Stock # |
IGL02281
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
141410874-141450730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141419730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 340
(V340A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099542
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102484]
[ENSMUST00000177592]
|
AlphaFold |
A2ADY9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102484
AA Change: V340A
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099542 Gene: ENSMUSG00000078515 AA Change: V340A
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: ENSMUST00000177592
|
SMART Domains |
Protein: ENSMUSP00000136018 Gene: ENSMUSG00000078515
Domain | Start | End | E-Value | Type |
low complexity region
|
315 |
320 |
N/A |
INTRINSIC |
UBA
|
538 |
575 |
8.12e-6 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrp |
T |
C |
8: 106,293,786 (GRCm39) |
E60G |
probably benign |
Het |
Aldh3a1 |
T |
G |
11: 61,107,949 (GRCm39) |
|
probably null |
Het |
Bach2 |
T |
C |
4: 32,562,513 (GRCm39) |
C327R |
possibly damaging |
Het |
Bcam |
C |
T |
7: 19,492,616 (GRCm39) |
G523D |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
Calm1 |
A |
T |
12: 100,171,883 (GRCm39) |
I112F |
probably damaging |
Het |
Ceacam3 |
T |
C |
7: 16,895,656 (GRCm39) |
V542A |
probably benign |
Het |
Clec5a |
A |
T |
6: 40,561,336 (GRCm39) |
D36E |
probably benign |
Het |
Clspn |
T |
A |
4: 126,459,563 (GRCm39) |
C321S |
possibly damaging |
Het |
Cmtr1 |
T |
A |
17: 29,910,255 (GRCm39) |
D453E |
probably benign |
Het |
Cntnap1 |
T |
A |
11: 101,073,080 (GRCm39) |
D561E |
possibly damaging |
Het |
Cul5 |
A |
G |
9: 53,546,349 (GRCm39) |
V137A |
possibly damaging |
Het |
Cyp2b9 |
A |
G |
7: 25,900,529 (GRCm39) |
Y389C |
probably damaging |
Het |
Etv4 |
T |
C |
11: 101,664,545 (GRCm39) |
Y235C |
probably damaging |
Het |
Gm3099 |
G |
A |
14: 15,347,225 (GRCm39) |
|
probably benign |
Het |
Gpsm1 |
T |
A |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
Idh2 |
A |
G |
7: 79,745,550 (GRCm39) |
|
probably null |
Het |
Kit |
G |
A |
5: 75,815,194 (GRCm39) |
E973K |
possibly damaging |
Het |
Lilra5 |
A |
G |
7: 4,241,782 (GRCm39) |
I194V |
probably benign |
Het |
Lrp6 |
A |
C |
6: 134,434,697 (GRCm39) |
N1335K |
probably benign |
Het |
Map9 |
G |
A |
3: 82,298,453 (GRCm39) |
E613K |
possibly damaging |
Het |
Mroh2b |
G |
A |
15: 4,981,745 (GRCm39) |
A1519T |
probably benign |
Het |
Nefm |
A |
G |
14: 68,361,913 (GRCm39) |
V117A |
probably damaging |
Het |
Nr2c2 |
T |
A |
6: 92,131,495 (GRCm39) |
S186T |
probably benign |
Het |
Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
Plcd1 |
A |
T |
9: 118,903,841 (GRCm39) |
C334S |
probably benign |
Het |
Pomt1 |
T |
C |
2: 32,138,658 (GRCm39) |
S425P |
possibly damaging |
Het |
Pspc1 |
G |
T |
14: 56,960,635 (GRCm39) |
P497T |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,948,651 (GRCm39) |
P58L |
probably benign |
Het |
Rph3a |
T |
C |
5: 121,086,896 (GRCm39) |
T435A |
probably damaging |
Het |
Rsbn1 |
T |
C |
3: 103,869,777 (GRCm39) |
L746P |
probably damaging |
Het |
Sfrp2 |
A |
G |
3: 83,680,446 (GRCm39) |
E202G |
possibly damaging |
Het |
Slc25a38 |
T |
C |
9: 119,946,598 (GRCm39) |
S111P |
probably damaging |
Het |
Tfcp2l1 |
T |
C |
1: 118,597,110 (GRCm39) |
|
probably benign |
Het |
Tonsl |
A |
T |
15: 76,518,274 (GRCm39) |
L566H |
probably damaging |
Het |
Tsc1 |
C |
A |
2: 28,553,607 (GRCm39) |
D153E |
probably damaging |
Het |
Vmn2r37 |
A |
T |
7: 9,220,881 (GRCm39) |
H327Q |
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 |
|
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 |
|
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 |
|
|
Posted On |
2015-04-16 |