Incidental Mutation 'IGL03264:Dcun1d4'
| ID |
415024 |
| 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: 0.139)
|
| Stock # |
IGL03264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
73638353-73718137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73677572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 84
(S84G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063882]
[ENSMUST00000087181]
[ENSMUST00000113558]
[ENSMUST00000133137]
[ENSMUST00000134092]
[ENSMUST00000136268]
[ENSMUST00000141553]
[ENSMUST00000145645]
[ENSMUST00000156806]
|
| AlphaFold |
Q8CCA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063882
AA Change: S84G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067616
Gene: ENSMUSG00000051674
AA Change: S84G
| 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 benign
Transcript: ENSMUST00000087181
AA Change: S98G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084427
Gene: ENSMUSG00000051674
AA Change: S98G
| 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: S84G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109187
Gene: ENSMUSG00000051674
AA Change: S84G
| 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
AA Change: S84G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000120055
Gene: ENSMUSG00000051674
AA Change: S84G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134092
AA Change: R84G
|
| SMART Domains |
Protein: ENSMUSP00000118710
Gene: ENSMUSG00000051674
AA Change: R84G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136268
AA Change: S24G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119983
Gene: ENSMUSG00000051674
AA Change: S24G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GBA|B
|
42 |
104 |
2e-8 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141553
AA Change: S24G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145645
AA Change: S24G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122689
Gene: ENSMUSG00000051674
AA Change: S24G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GBA|B
|
42 |
101 |
1e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156806
AA Change: S24G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149970
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
G |
17: 31,283,428 (GRCm39) |
S38A |
probably benign |
Het |
| Alkbh1 |
T |
G |
12: 87,478,197 (GRCm39) |
D238A |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,529,220 (GRCm39) |
D1531E |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,056,784 (GRCm39) |
I3152F |
probably damaging |
Het |
| Cacng3 |
G |
T |
7: 122,271,180 (GRCm39) |
G62W |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,958,093 (GRCm39) |
I625V |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,228,898 (GRCm39) |
N444S |
possibly damaging |
Het |
| Chst13 |
A |
T |
6: 90,286,193 (GRCm39) |
Y256* |
probably null |
Het |
| Clcn5 |
T |
A |
X: 7,044,613 (GRCm39) |
H177L |
probably benign |
Het |
| Dars1 |
G |
A |
1: 128,341,427 (GRCm39) |
R63C |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,617,298 (GRCm39) |
N82D |
probably damaging |
Het |
| Eef1a2 |
C |
A |
2: 180,790,527 (GRCm39) |
K376N |
possibly damaging |
Het |
| Efhc1 |
G |
A |
1: 21,037,715 (GRCm39) |
M297I |
probably benign |
Het |
| Etfb |
G |
T |
7: 43,101,897 (GRCm39) |
V64F |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,334,637 (GRCm39) |
N852K |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,376,790 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,513,288 (GRCm39) |
K274E |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,525,553 (GRCm39) |
S200T |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
| Med12l |
C |
T |
3: 59,208,788 (GRCm39) |
Q2139* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,155,337 (GRCm39) |
F1536L |
possibly damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,329 (GRCm39) |
Q100L |
probably damaging |
Het |
| Rmnd5a |
A |
G |
6: 71,370,119 (GRCm39) |
I389T |
probably damaging |
Het |
| Rnf128 |
T |
G |
X: 138,511,985 (GRCm39) |
V144G |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,378,109 (GRCm39) |
T486A |
possibly damaging |
Het |
| Rps6kc1 |
T |
C |
1: 190,604,026 (GRCm39) |
T199A |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,343,854 (GRCm39) |
D1338V |
unknown |
Het |
| Slc35g2 |
A |
T |
9: 100,434,699 (GRCm39) |
I324K |
possibly damaging |
Het |
| Slc4a5 |
G |
A |
6: 83,238,507 (GRCm39) |
R225H |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,793,636 (GRCm39) |
H113Q |
probably damaging |
Het |
| Stpg2 |
A |
C |
3: 139,014,970 (GRCm39) |
K378N |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,066,422 (GRCm39) |
|
probably benign |
Het |
| Utp11 |
T |
C |
4: 124,573,521 (GRCm39) |
K218E |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,315,819 (GRCm39) |
I667F |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,048,016 (GRCm39) |
L1763P |
probably damaging |
Het |
| Wnt2 |
A |
G |
6: 17,989,959 (GRCm39) |
Y313H |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,923,229 (GRCm39) |
S676P |
probably benign |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,811 (GRCm39) |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation