Incidental Mutation 'R9363:Dcun1d2'
| ID |
708788 |
| 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 # |
R9363 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13305963-13338126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13309014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 184
(Y184H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033825]
[ENSMUST00000045366]
[ENSMUST00000110838]
[ENSMUST00000110839]
[ENSMUST00000110840]
[ENSMUST00000168498]
[ENSMUST00000171619]
[ENSMUST00000203467]
[ENSMUST00000203604]
[ENSMUST00000204916]
|
| AlphaFold |
Q8BZJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033825
|
| SMART Domains |
Protein: ENSMUSP00000033825
Gene: ENSMUSG00000031448
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
6 |
327 |
1.2e-53 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000045366
|
| SMART Domains |
Protein: ENSMUSP00000047208
Gene: ENSMUSG00000038506
| 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: Y184H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000106462
Gene: ENSMUSG00000038506
AA Change: Y184H
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106463
Gene: ENSMUSG00000038506
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106464
Gene: ENSMUSG00000038506
| 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: ENSMUST00000168498
|
| SMART Domains |
Protein: ENSMUSP00000131920
Gene: ENSMUSG00000031448
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
69 |
196 |
9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171619
|
| SMART Domains |
Protein: ENSMUSP00000132014
Gene: ENSMUSG00000031448
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
1 |
135 |
4.9e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203467
|
| SMART Domains |
Protein: ENSMUSP00000145399
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
7.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203604
|
| SMART Domains |
Protein: ENSMUSP00000145430
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
4.7e-11 |
PFAM |
|
Pfam:Cullin_binding
|
136 |
213 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204916
|
| SMART Domains |
Protein: ENSMUSP00000145145
Gene: ENSMUSG00000031448
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADP_ribosyl_GH
|
6 |
327 |
4.2e-49 |
PFAM |
|
low complexity region
|
509 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
955 |
969 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1047 |
1150 |
1.82e-5 |
PROSPERO |
|
internal_repeat_1
|
1157 |
1274 |
1.82e-5 |
PROSPERO |
|
low complexity region
|
1275 |
1290 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,438,575 (GRCm39) |
|
probably null |
Het |
| Alkbh1 |
A |
T |
12: 87,487,080 (GRCm39) |
Y96* |
probably null |
Het |
| Alkbh8 |
T |
A |
9: 3,385,576 (GRCm39) |
C658S |
probably damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Blm |
T |
C |
7: 80,108,663 (GRCm39) |
Y1327C |
probably damaging |
Het |
| Ccdc28a |
C |
T |
10: 18,094,050 (GRCm39) |
D190N |
unknown |
Het |
| Chdh |
A |
G |
14: 29,753,310 (GRCm39) |
E73G |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,460,481 (GRCm39) |
P463L |
probably benign |
Het |
| Dst |
T |
C |
1: 34,235,060 (GRCm39) |
L3535P |
probably damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,761 (GRCm39) |
I153V |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Hcfc2 |
C |
T |
10: 82,574,258 (GRCm39) |
P144L |
probably damaging |
Het |
| Jkampl |
T |
A |
6: 73,446,487 (GRCm39) |
I21F |
possibly damaging |
Het |
| Mdc1 |
C |
A |
17: 36,162,019 (GRCm39) |
Q942K |
probably benign |
Het |
| Med15 |
C |
T |
16: 17,489,414 (GRCm39) |
V387I |
unknown |
Het |
| Muc4 |
C |
T |
16: 32,576,992 (GRCm39) |
S94L |
|
Het |
| Or5ak23 |
T |
A |
2: 85,244,993 (GRCm39) |
I77F |
probably damaging |
Het |
| Otud3 |
G |
T |
4: 138,623,133 (GRCm39) |
N369K |
probably benign |
Het |
| Parp14 |
C |
T |
16: 35,678,586 (GRCm39) |
E461K |
possibly damaging |
Het |
| Paxbp1 |
T |
A |
16: 90,827,395 (GRCm39) |
Q480L |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,500,831 (GRCm39) |
A1319V |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,172,257 (GRCm39) |
S153T |
probably benign |
Het |
| Scara3 |
T |
C |
14: 66,168,720 (GRCm39) |
D299G |
probably benign |
Het |
| Scube1 |
C |
A |
15: 83,499,080 (GRCm39) |
E712* |
probably null |
Het |
| Setd4 |
T |
A |
16: 93,388,009 (GRCm39) |
E159V |
probably benign |
Het |
| Slc15a2 |
T |
A |
16: 36,572,672 (GRCm39) |
I670F |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
| Snx18 |
G |
A |
13: 113,754,732 (GRCm39) |
P67L |
probably benign |
Het |
| St3gal5 |
A |
T |
6: 72,119,301 (GRCm39) |
K165* |
probably null |
Het |
| Sun5 |
A |
G |
2: 153,700,365 (GRCm39) |
I294T |
probably benign |
Het |
| Svil |
A |
G |
18: 5,037,155 (GRCm39) |
K37E |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,134,691 (GRCm39) |
I409T |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,917,294 (GRCm39) |
Y2230H |
possibly damaging |
Het |
| Trps1 |
A |
G |
15: 50,524,676 (GRCm39) |
S1085P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,612,592 (GRCm39) |
N17162K |
probably damaging |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,616 (GRCm39) |
F258L |
probably damaging |
Het |
| Vmn2r102 |
C |
T |
17: 19,897,614 (GRCm39) |
H210Y |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,815,423 (GRCm39) |
V147E |
probably benign |
Het |
| Zhx3 |
G |
A |
2: 160,621,785 (GRCm39) |
A794V |
probably benign |
Het |
| Zscan2 |
A |
G |
7: 80,525,331 (GRCm39) |
T351A |
probably benign |
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 |
|
R9437:Dcun1d2
|
UTSW |
8 |
13,331,004 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTCTTAACTCCTGTGGG -3'
(R):5'- TAGCACGTACCGTTGATGGAC -3'
Sequencing Primer
(F):5'- AACTCCTGTGGGTGGGCAG -3'
(R):5'- TACCGTTGATGGACGTCCG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation