Incidental Mutation 'IGL00927:Dcun1d1'
| ID |
27102 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcun1d1
|
| Ensembl Gene |
ENSMUSG00000027708 |
| Gene Name |
defective in cullin neddylation 1 domain containing 1 |
| Synonyms |
Rp42, Tes3, SCCRO, DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae), pTes3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.684)
|
| Stock # |
IGL00927
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
35946254-35991594 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 35975114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108182]
[ENSMUST00000148465]
[ENSMUST00000178098]
[ENSMUST00000196270]
[ENSMUST00000197489]
[ENSMUST00000200661]
[ENSMUST00000199173]
[ENSMUST00000198389]
[ENSMUST00000198362]
|
| AlphaFold |
Q9QZ73 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108182
|
| SMART Domains |
Protein: ENSMUSP00000103817
Gene: ENSMUSG00000027708
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
1.6e-12 |
PFAM |
|
Pfam:Cullin_binding
|
136 |
247 |
2.2e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148465
|
| SMART Domains |
Protein: ENSMUSP00000115420
Gene: ENSMUSG00000027708
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
1 |
35 |
2.5e-8 |
PFAM |
|
Pfam:Cullin_binding
|
119 |
214 |
9.4e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178098
|
| SMART Domains |
Protein: ENSMUSP00000137324
Gene: ENSMUSG00000027708
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
1 |
35 |
3e-8 |
PFAM |
|
Pfam:Cullin_binding
|
119 |
233 |
6.7e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196263
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196270
|
| SMART Domains |
Protein: ENSMUSP00000142384
Gene: ENSMUSG00000027708
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
1 |
35 |
8.8e-9 |
PFAM |
|
PDB:3TDZ|B
|
47 |
115 |
3e-44 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197489
|
| SMART Domains |
Protein: ENSMUSP00000142690
Gene: ENSMUSG00000027708
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
7.5e-11 |
PFAM |
|
PDB:3TDZ|B
|
62 |
89 |
9e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197546
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200661
|
| SMART Domains |
Protein: ENSMUSP00000143716
Gene: ENSMUSG00000027708
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
1 |
35 |
5e-9 |
PFAM |
|
Pfam:Cullin_binding
|
121 |
220 |
9.9e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199173
|
| SMART Domains |
Protein: ENSMUSP00000142443
Gene: ENSMUSG00000027708
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
1 |
35 |
8.8e-9 |
PFAM |
|
PDB:3TDZ|B
|
47 |
115 |
3e-44 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198389
|
| SMART Domains |
Protein: ENSMUSP00000143243
Gene: ENSMUSG00000027708
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
1 |
35 |
3e-8 |
PFAM |
|
Pfam:Cullin_binding
|
119 |
233 |
6.7e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198362
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,674 (GRCm39) |
T92A |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,765,125 (GRCm39) |
S1007G |
probably benign |
Het |
| Cabp4 |
A |
T |
19: 4,189,406 (GRCm39) |
S50R |
possibly damaging |
Het |
| Camp |
A |
T |
9: 109,678,336 (GRCm39) |
L56Q |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,986,461 (GRCm39) |
N568S |
probably benign |
Het |
| Ccr6 |
C |
A |
17: 8,474,825 (GRCm39) |
T10K |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,072,992 (GRCm39) |
F106S |
probably damaging |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,943 (GRCm39) |
L34P |
probably damaging |
Het |
| Deup1 |
A |
G |
9: 15,521,967 (GRCm39) |
|
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,083,518 (GRCm39) |
F184S |
probably damaging |
Het |
| Fmnl3 |
A |
G |
15: 99,235,509 (GRCm39) |
|
probably null |
Het |
| Grk2 |
T |
C |
19: 4,337,982 (GRCm39) |
N508S |
probably benign |
Het |
| Herc4 |
A |
G |
10: 63,109,316 (GRCm39) |
I184V |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ift56 |
T |
C |
6: 38,359,155 (GRCm39) |
|
probably benign |
Het |
| Kif3b |
G |
A |
2: 153,158,381 (GRCm39) |
A61T |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,890 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
C |
A |
3: 157,866,727 (GRCm39) |
V1005L |
possibly damaging |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,046 (GRCm39) |
M168L |
probably benign |
Het |
| Ndc1 |
C |
T |
4: 107,241,977 (GRCm39) |
|
probably benign |
Het |
| Nphs1 |
A |
G |
7: 30,160,164 (GRCm39) |
|
probably benign |
Het |
| Or52w1 |
A |
T |
7: 105,018,454 (GRCm39) |
Y298F |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,907,734 (GRCm39) |
V200A |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,606 (GRCm39) |
Y245C |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,740,918 (GRCm39) |
T1055A |
probably damaging |
Het |
| Plcl2 |
C |
T |
17: 50,913,948 (GRCm39) |
S319L |
probably benign |
Het |
| Plekha8 |
C |
A |
6: 54,606,822 (GRCm39) |
Y372* |
probably null |
Het |
| Ralb |
T |
A |
1: 119,399,506 (GRCm39) |
N184I |
probably benign |
Het |
| Robo3 |
C |
T |
9: 37,339,050 (GRCm39) |
|
probably null |
Het |
| Slc41a1 |
T |
A |
1: 131,766,914 (GRCm39) |
L144H |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,739,855 (GRCm39) |
G3364D |
probably damaging |
Het |
| Spmap2 |
A |
G |
10: 79,412,433 (GRCm39) |
S329P |
probably damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,216 (GRCm39) |
V36D |
possibly damaging |
Het |
| Zbtb7c |
T |
C |
18: 76,278,921 (GRCm39) |
S460P |
possibly damaging |
Het |
| Zscan30 |
T |
C |
18: 24,104,834 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Dcun1d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Dcun1d1
|
APN |
3 |
35,970,455 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03092:Dcun1d1
|
APN |
3 |
35,975,141 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03214:Dcun1d1
|
APN |
3 |
35,973,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
deacon
|
UTSW |
3 |
35,951,934 (GRCm39) |
splice site |
probably benign |
|
|
Preacher
|
UTSW |
3 |
35,951,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
LCD18:Dcun1d1
|
UTSW |
3 |
35,992,154 (GRCm39) |
unclassified |
probably benign |
|
|
R0575:Dcun1d1
|
UTSW |
3 |
35,951,934 (GRCm39) |
splice site |
probably benign |
|
|
R1006:Dcun1d1
|
UTSW |
3 |
35,951,930 (GRCm39) |
splice site |
probably benign |
|
|
R1820:Dcun1d1
|
UTSW |
3 |
35,973,153 (GRCm39) |
nonsense |
probably null |
|
|
R4714:Dcun1d1
|
UTSW |
3 |
35,949,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5849:Dcun1d1
|
UTSW |
3 |
35,970,333 (GRCm39) |
intron |
probably benign |
|
|
R6681:Dcun1d1
|
UTSW |
3 |
35,949,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Dcun1d1
|
UTSW |
3 |
35,951,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8344:Dcun1d1
|
UTSW |
3 |
35,951,703 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9049:Dcun1d1
|
UTSW |
3 |
35,951,998 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9351:Dcun1d1
|
UTSW |
3 |
35,975,185 (GRCm39) |
missense |
probably benign |
|
|
X0018:Dcun1d1
|
UTSW |
3 |
35,975,293 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
| Posted On |
2013-04-17 |
Incidental Mutation