Incidental Mutation 'IGL02194:Dcun1d4'
| ID |
284012 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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) |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
IGL02194
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
73638353-73718137 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 73638544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087181]
|
| AlphaFold |
Q8CCA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087181
|
| SMART Domains |
Protein: ENSMUSP00000084427
Gene: ENSMUSG00000051674
| 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 |
noncoding transcript
Transcript: ENSMUST00000119247
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
| Akap5 |
C |
T |
12: 76,374,807 (GRCm39) |
P80S |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,392,429 (GRCm39) |
D539E |
probably benign |
Het |
| Anxa11 |
A |
G |
14: 25,870,553 (GRCm39) |
D39G |
unknown |
Het |
| Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
| Btnl1 |
A |
C |
17: 34,598,509 (GRCm39) |
T42P |
possibly damaging |
Het |
| Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
| Det1 |
A |
T |
7: 78,489,912 (GRCm39) |
V371E |
probably benign |
Het |
| Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
| Fam76b |
G |
T |
9: 13,744,274 (GRCm39) |
G124W |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,211,341 (GRCm39) |
E117G |
probably benign |
Het |
| Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
| Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
| Krt15 |
A |
G |
11: 100,022,839 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
| Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
| Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
| Rnf157 |
C |
T |
11: 116,237,858 (GRCm39) |
|
probably null |
Het |
| Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
| Ube2q2l |
T |
C |
6: 136,378,056 (GRCm39) |
Q258R |
probably benign |
Het |
|
| Other mutations in Dcun1d4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4029: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation