Incidental Mutation 'R4029:Dcun1d4'
ID |
313127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcun1d4
|
Ensembl Gene |
ENSMUSG00000051674 |
Gene Name |
defective in cullin neddylation 1 domain containing 4 |
Synonyms |
DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) |
MMRRC Submission |
040959-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.183)
|
Stock # |
R4029 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
73638353-73718137 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73691980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 89
(D89G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063882]
[ENSMUST00000087181]
[ENSMUST00000113558]
[ENSMUST00000133137]
[ENSMUST00000134092]
[ENSMUST00000136268]
[ENSMUST00000145645]
|
AlphaFold |
Q8CCA0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063882
AA Change: D149G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000067616 Gene: ENSMUSG00000051674 AA Change: D149G
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
Pfam:Cullin_binding
|
173 |
287 |
3.4e-35 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087181
AA Change: D163G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000084427 Gene: ENSMUSG00000051674 AA Change: D163G
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
Pfam:Cullin_binding
|
189 |
300 |
1.3e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113558
AA Change: D149G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000109187 Gene: ENSMUSG00000051674 AA Change: D149G
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
Pfam:Cullin_binding
|
203 |
252 |
2e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130087
|
SMART Domains |
Protein: ENSMUSP00000118392 Gene: ENSMUSG00000051674
Domain | Start | End | E-Value | Type |
PDB:3KEV|A
|
44 |
109 |
3e-9 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133137
|
SMART Domains |
Protein: ENSMUSP00000120055 Gene: ENSMUSG00000051674
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134092
|
SMART Domains |
Protein: ENSMUSP00000118710 Gene: ENSMUSG00000051674
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136268
AA Change: D89G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119983 Gene: ENSMUSG00000051674 AA Change: D89G
Domain | Start | End | E-Value | Type |
PDB:4GBA|B
|
42 |
104 |
2e-8 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145645
AA Change: D89G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000122689 Gene: ENSMUSG00000051674 AA Change: D89G
Domain | Start | End | E-Value | Type |
PDB:4GBA|B
|
42 |
101 |
1e-7 |
PDB |
|
Meta Mutation Damage Score |
0.0795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (31/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
A |
G |
7: 119,293,008 (GRCm39) |
K46R |
probably benign |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
Bfsp1 |
G |
A |
2: 143,673,749 (GRCm39) |
|
probably benign |
Het |
Cenpq |
T |
C |
17: 41,238,140 (GRCm39) |
T125A |
probably damaging |
Het |
Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
Dmrt2 |
T |
G |
19: 25,655,498 (GRCm39) |
S366A |
probably damaging |
Het |
Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
Krt17 |
T |
A |
11: 100,148,349 (GRCm39) |
N364I |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
Nup35 |
A |
G |
2: 80,483,318 (GRCm39) |
D172G |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
|
Other mutations in Dcun1d4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02194:Dcun1d4
|
APN |
5 |
73,638,544 (GRCm39) |
splice site |
probably benign |
|
IGL02345:Dcun1d4
|
APN |
5 |
73,668,495 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03264:Dcun1d4
|
APN |
5 |
73,677,572 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4402001:Dcun1d4
|
UTSW |
5 |
73,668,276 (GRCm39) |
missense |
probably benign |
0.09 |
R1184:Dcun1d4
|
UTSW |
5 |
73,668,455 (GRCm39) |
splice site |
probably benign |
|
R2266:Dcun1d4
|
UTSW |
5 |
73,638,618 (GRCm39) |
splice site |
probably benign |
|
R2267:Dcun1d4
|
UTSW |
5 |
73,638,618 (GRCm39) |
splice site |
probably benign |
|
R2268:Dcun1d4
|
UTSW |
5 |
73,638,618 (GRCm39) |
splice site |
probably benign |
|
R2269:Dcun1d4
|
UTSW |
5 |
73,638,618 (GRCm39) |
splice site |
probably benign |
|
R4027:Dcun1d4
|
UTSW |
5 |
73,691,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4031:Dcun1d4
|
UTSW |
5 |
73,691,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4788:Dcun1d4
|
UTSW |
5 |
73,691,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R4961:Dcun1d4
|
UTSW |
5 |
73,701,463 (GRCm39) |
nonsense |
probably null |
|
R5245:Dcun1d4
|
UTSW |
5 |
73,714,657 (GRCm39) |
missense |
probably benign |
0.11 |
R5284:Dcun1d4
|
UTSW |
5 |
73,680,025 (GRCm39) |
splice site |
probably null |
|
R5457:Dcun1d4
|
UTSW |
5 |
73,688,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R5728:Dcun1d4
|
UTSW |
5 |
73,677,491 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6469:Dcun1d4
|
UTSW |
5 |
73,691,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R6813:Dcun1d4
|
UTSW |
5 |
73,678,300 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7165:Dcun1d4
|
UTSW |
5 |
73,648,538 (GRCm39) |
splice site |
probably null |
|
R7439:Dcun1d4
|
UTSW |
5 |
73,648,879 (GRCm39) |
critical splice donor site |
probably null |
|
R8706:Dcun1d4
|
UTSW |
5 |
73,714,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R8730:Dcun1d4
|
UTSW |
5 |
73,688,832 (GRCm39) |
splice site |
probably benign |
|
R8768:Dcun1d4
|
UTSW |
5 |
73,678,310 (GRCm39) |
missense |
probably benign |
0.03 |
R9326:Dcun1d4
|
UTSW |
5 |
73,680,018 (GRCm39) |
missense |
probably benign |
|
R9496:Dcun1d4
|
UTSW |
5 |
73,668,272 (GRCm39) |
missense |
probably damaging |
0.98 |
X0063:Dcun1d4
|
UTSW |
5 |
73,712,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGTCAAACCCAGACTCACTCAG -3'
(R):5'- AAGGGAGGCTTGCTACACTAC -3'
Sequencing Primer
(F):5'- AGACTCACTCAGTTTTGAAGCC -3'
(R):5'- ATGTCCTAAGTTCCCAGGAGC -3'
|
Posted On |
2015-04-30 |