Incidental Mutation 'R0467:Ddi2'
ID |
41683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ddi2
|
Ensembl Gene |
ENSMUSG00000078515 |
Gene Name |
DNA-damage inducible protein 2 |
Synonyms |
1110056G13Rik, 1700027M01Rik, 9130022E05Rik |
MMRRC Submission |
038667-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.942)
|
Stock # |
R0467 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
141410874-141450730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141412495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 139
(I139T)
|
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: I139T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000101408 Gene: ENSMUSG00000040715 AA Change: I139T
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: I139T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000136018 Gene: ENSMUSG00000078515 AA Change: I139T
Domain | Start | End | E-Value | Type |
low complexity region
|
315 |
320 |
N/A |
INTRINSIC |
UBA
|
538 |
575 |
8.12e-6 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.7%
- 20x: 93.3%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,532,151 (GRCm39) |
|
probably benign |
Het |
Anapc1 |
A |
G |
2: 128,510,963 (GRCm39) |
I511T |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,621,589 (GRCm39) |
H477Q |
probably damaging |
Het |
C4b |
A |
G |
17: 34,955,101 (GRCm39) |
V795A |
probably benign |
Het |
Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
Cdk12 |
T |
C |
11: 98,094,405 (GRCm39) |
V71A |
probably damaging |
Het |
Cul3 |
A |
T |
1: 80,258,580 (GRCm39) |
D419E |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,317,471 (GRCm39) |
D333E |
probably benign |
Het |
Dnase1 |
A |
G |
16: 3,857,013 (GRCm39) |
D7G |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Galc |
A |
C |
12: 98,208,904 (GRCm39) |
I250R |
probably damaging |
Het |
Garin1b |
G |
A |
6: 29,326,606 (GRCm39) |
S241N |
probably damaging |
Het |
Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
Gm6133 |
A |
C |
18: 78,393,305 (GRCm39) |
S100R |
probably benign |
Het |
Iba57 |
T |
C |
11: 59,054,265 (GRCm39) |
T85A |
probably benign |
Het |
Ipo4 |
A |
T |
14: 55,872,983 (GRCm39) |
M1K |
probably null |
Het |
Ippk |
A |
G |
13: 49,584,341 (GRCm39) |
|
probably null |
Het |
Kcnk10 |
A |
T |
12: 98,456,204 (GRCm39) |
I209N |
probably benign |
Het |
Klk14 |
T |
C |
7: 43,343,534 (GRCm39) |
L122P |
probably benign |
Het |
Ltbp1 |
T |
A |
17: 75,589,424 (GRCm39) |
|
probably null |
Het |
Mab21l4 |
A |
T |
1: 93,080,766 (GRCm39) |
I380N |
probably damaging |
Het |
Mcm3 |
T |
C |
1: 20,875,071 (GRCm39) |
D737G |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Nalcn |
T |
A |
14: 123,528,459 (GRCm39) |
T1456S |
probably benign |
Het |
Nckap1l |
C |
T |
15: 103,405,854 (GRCm39) |
P1097S |
probably benign |
Het |
Ncoa1 |
A |
G |
12: 4,317,687 (GRCm39) |
M1215T |
possibly damaging |
Het |
Nomo1 |
T |
A |
7: 45,721,911 (GRCm39) |
|
probably null |
Het |
Obox5 |
T |
A |
7: 15,491,932 (GRCm39) |
C116S |
possibly damaging |
Het |
Or2ag2b |
T |
A |
7: 106,417,568 (GRCm39) |
S93T |
possibly damaging |
Het |
Or51a43 |
C |
T |
7: 103,717,332 (GRCm39) |
R302H |
probably benign |
Het |
Or5a1 |
C |
A |
19: 12,097,900 (GRCm39) |
A59S |
probably benign |
Het |
Pcdhb14 |
G |
T |
18: 37,582,277 (GRCm39) |
R461L |
probably damaging |
Het |
Pdgfra |
A |
G |
5: 75,355,697 (GRCm39) |
D1069G |
probably damaging |
Het |
Pgr |
C |
T |
9: 8,900,779 (GRCm39) |
A104V |
possibly damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Potegl |
A |
G |
2: 23,102,832 (GRCm39) |
E190G |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,253,109 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
G |
T |
15: 36,099,941 (GRCm39) |
S258* |
probably null |
Het |
Rsph6a |
C |
A |
7: 18,791,594 (GRCm39) |
D254E |
possibly damaging |
Het |
Sgk1 |
A |
G |
10: 21,872,257 (GRCm39) |
|
probably benign |
Het |
Shcbp1l |
G |
A |
1: 153,308,928 (GRCm39) |
C174Y |
probably damaging |
Het |
Spata31g1 |
T |
C |
4: 42,972,715 (GRCm39) |
S683P |
probably benign |
Het |
Sulf1 |
T |
A |
1: 12,867,144 (GRCm39) |
N109K |
probably damaging |
Het |
Taf7l2 |
G |
A |
10: 115,949,058 (GRCm39) |
A156V |
probably benign |
Het |
Tas2r115 |
T |
A |
6: 132,714,682 (GRCm39) |
I90L |
probably benign |
Het |
Tmem200a |
T |
C |
10: 25,870,002 (GRCm39) |
H89R |
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,906,244 (GRCm39) |
S1212P |
probably damaging |
Het |
Zfp408 |
T |
C |
2: 91,475,882 (GRCm39) |
Y424C |
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 |
|
R0350:Ddi2
|
UTSW |
4 |
141,412,834 (GRCm39) |
missense |
probably benign |
0.30 |
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'- TGAGCGTGTCTTTGTAGCTCACC -3'
(R):5'- TTGCTTCCTCAGCAGAGCAGAGTC -3'
Sequencing Primer
(F):5'- TCCTCAGAGCTTCCAAACTG -3'
(R):5'- CAGAGCAGAGTCTAGCCATGC -3'
|
Posted On |
2013-05-23 |