Incidental Mutation 'R9437:Dcun1d2'
| ID |
713326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcun1d2
|
| Ensembl Gene |
ENSMUSG00000038506 |
| Gene Name |
defective in cullin neddylation 1 domain containing 2 |
| Synonyms |
DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae) |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R9437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13305963-13338126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13331004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 42
(D42G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045366]
[ENSMUST00000110838]
[ENSMUST00000110839]
[ENSMUST00000110840]
[ENSMUST00000203467]
[ENSMUST00000203604]
|
| AlphaFold |
Q8BZJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045366
AA Change: D42G
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000047208
Gene: ENSMUSG00000038506
AA Change: D42G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
1.5e-13 |
PFAM |
|
Pfam:Cullin_binding
|
136 |
247 |
2.2e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110838
AA Change: D42G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000106462
Gene: ENSMUSG00000038506
AA Change: D42G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
9.9e-14 |
PFAM |
|
PDB:4GAO|G
|
62 |
173 |
3e-71 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110839
AA Change: D42G
PolyPhen 2
Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106463
Gene: ENSMUSG00000038506
AA Change: D42G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
1.1e-13 |
PFAM |
|
Pfam:Cullin_binding
|
134 |
206 |
2.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110840
AA Change: D42G
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106464
Gene: ENSMUSG00000038506
AA Change: D42G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
7.6e-14 |
PFAM |
|
PDB:4GAO|G
|
62 |
199 |
6e-75 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203467
AA Change: D42G
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000145399
Gene: ENSMUSG00000038506
AA Change: D42G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
7.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203604
AA Change: D42G
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000145430
Gene: ENSMUSG00000038506
AA Change: D42G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
4.7e-11 |
PFAM |
|
Pfam:Cullin_binding
|
136 |
213 |
1.1e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
T |
C |
17: 32,553,608 (GRCm39) |
S371G |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,162,158 (GRCm39) |
S2255P |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Copa |
G |
A |
1: 171,931,712 (GRCm39) |
R321H |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,372,199 (GRCm39) |
D415E |
possibly damaging |
Het |
| Ebf4 |
T |
A |
2: 130,202,005 (GRCm39) |
S325T |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,097,562 (GRCm39) |
E137G |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,813,872 (GRCm39) |
S1304P |
probably benign |
Het |
| Fam24b |
A |
T |
7: 130,927,893 (GRCm39) |
C99S |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,945,417 (GRCm39) |
T1437A |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,627 (GRCm39) |
T287A |
probably benign |
Het |
| Fscb |
G |
T |
12: 64,519,708 (GRCm39) |
A586E |
unknown |
Het |
| Gm2244 |
A |
T |
14: 19,599,038 (GRCm39) |
I86N |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
| Kcnk5 |
A |
C |
14: 20,192,468 (GRCm39) |
I231S |
probably damaging |
Het |
| Krt10 |
A |
G |
11: 99,276,390 (GRCm39) |
M87T |
probably benign |
Het |
| Ly6c2 |
C |
G |
15: 74,983,535 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
A |
9: 109,864,155 (GRCm39) |
T460K |
possibly damaging |
Het |
| Mok |
A |
G |
12: 110,774,659 (GRCm39) |
C388R |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,607,065 (GRCm39) |
D200G |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,153,655 (GRCm39) |
Y687H |
probably damaging |
Het |
| Nrp1 |
A |
G |
8: 129,187,108 (GRCm39) |
T385A |
probably benign |
Het |
| Or2w25 |
T |
C |
11: 59,504,195 (GRCm39) |
M135T |
possibly damaging |
Het |
| Or56a41 |
A |
T |
7: 104,739,963 (GRCm39) |
Y294* |
probably null |
Het |
| Osbp2 |
A |
G |
11: 3,664,581 (GRCm39) |
S131P |
probably damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,144 (GRCm39) |
R199H |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigx |
G |
T |
16: 31,918,310 (GRCm39) |
D26E |
probably benign |
Het |
| Pkn3 |
T |
C |
2: 29,973,267 (GRCm39) |
I363T |
possibly damaging |
Het |
| Psg16 |
T |
A |
7: 16,827,715 (GRCm39) |
Y133N |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,246,925 (GRCm39) |
I407T |
probably damaging |
Het |
| Rc3h2 |
G |
A |
2: 37,272,841 (GRCm39) |
A745V |
possibly damaging |
Het |
| Srgap1 |
T |
C |
10: 121,636,777 (GRCm39) |
E703G |
probably benign |
Het |
| Susd4 |
T |
C |
1: 182,681,697 (GRCm39) |
|
probably null |
Het |
| Tbpl1 |
T |
C |
10: 22,587,838 (GRCm39) |
N37S |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,559,096 (GRCm39) |
I77V |
possibly damaging |
Het |
|
| Other mutations in Dcun1d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4519001:Dcun1d2
|
UTSW |
8 |
13,311,406 (GRCm39) |
missense |
probably benign |
|
|
R1491:Dcun1d2
|
UTSW |
8 |
13,331,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1582:Dcun1d2
|
UTSW |
8 |
13,330,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2892:Dcun1d2
|
UTSW |
8 |
13,328,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2894:Dcun1d2
|
UTSW |
8 |
13,328,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Dcun1d2
|
UTSW |
8 |
13,331,082 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7022:Dcun1d2
|
UTSW |
8 |
13,321,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7395:Dcun1d2
|
UTSW |
8 |
13,328,675 (GRCm39) |
nonsense |
probably null |
|
|
R7554:Dcun1d2
|
UTSW |
8 |
13,331,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8098:Dcun1d2
|
UTSW |
8 |
13,311,396 (GRCm39) |
missense |
probably benign |
|
|
R8679:Dcun1d2
|
UTSW |
8 |
13,311,406 (GRCm39) |
missense |
probably benign |
|
|
R9092:Dcun1d2
|
UTSW |
8 |
13,307,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:Dcun1d2
|
UTSW |
8 |
13,309,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAGCTCACTCGTTATCAGTC -3'
(R):5'- AGCAAACATGGCTTCATTGGC -3'
Sequencing Primer
(F):5'- TCTAGCCTTTCTGCCAGGAGG -3'
(R):5'- AAACATGGCTTCATTGGCTTTCC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation