Incidental Mutation 'IGL03214:Dcun1d1'
| ID |
413412 |
| 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 # |
IGL03214
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
35946254-35991594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35973220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 92
(W92R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108182]
[ENSMUST00000148465]
[ENSMUST00000178098]
[ENSMUST00000196270]
[ENSMUST00000197489]
[ENSMUST00000198389]
[ENSMUST00000199173]
[ENSMUST00000200661]
[ENSMUST00000198362]
|
| AlphaFold |
Q9QZ73 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108182
AA Change: W107R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103817
Gene: ENSMUSG00000027708
AA Change: W107R
| 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 damaging
Transcript: ENSMUST00000148465
AA Change: W92R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115420
Gene: ENSMUSG00000027708
AA Change: W92R
| 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 damaging
Transcript: ENSMUST00000178098
AA Change: W92R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137324
Gene: ENSMUSG00000027708
AA Change: W92R
| 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 damaging
Transcript: ENSMUST00000196270
AA Change: W92R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142384
Gene: ENSMUSG00000027708
AA Change: W92R
| 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 damaging
Transcript: ENSMUST00000198389
AA Change: W92R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143243
Gene: ENSMUSG00000027708
AA Change: W92R
| 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 damaging
Transcript: ENSMUST00000199173
AA Change: W92R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142443
Gene: ENSMUSG00000027708
AA Change: W92R
| 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 damaging
Transcript: ENSMUST00000200661
AA Change: W92R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143716
Gene: ENSMUSG00000027708
AA Change: W92R
| 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 |
unknown
Transcript: ENSMUST00000197546
AA Change: W106R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198362
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
C |
11: 7,117,054 (GRCm39) |
|
probably benign |
Het |
| Asb5 |
T |
C |
8: 55,038,098 (GRCm39) |
V207A |
probably benign |
Het |
| Atxn3 |
G |
T |
12: 101,912,181 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,839,100 (GRCm39) |
D857G |
probably benign |
Het |
| Cacna1i |
A |
G |
15: 80,239,917 (GRCm39) |
N322S |
probably benign |
Het |
| Ccn6 |
T |
C |
10: 39,029,163 (GRCm39) |
N255S |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,561,368 (GRCm39) |
|
probably null |
Het |
| Enpep |
T |
C |
3: 129,086,896 (GRCm39) |
D581G |
probably benign |
Het |
| Fam135a |
G |
A |
1: 24,092,357 (GRCm39) |
L201F |
probably damaging |
Het |
| Gm14496 |
T |
G |
2: 181,642,329 (GRCm39) |
L667V |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,909,553 (GRCm39) |
M539K |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,081,742 (GRCm39) |
V2261A |
probably benign |
Het |
| Krtap5-2 |
A |
G |
7: 141,728,751 (GRCm39) |
S310P |
unknown |
Het |
| Mme |
A |
T |
3: 63,237,111 (GRCm39) |
Y232F |
possibly damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,488,519 (GRCm39) |
Y58H |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,244,411 (GRCm39) |
S983P |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,381,111 (GRCm39) |
|
probably benign |
Het |
| Neb |
C |
T |
2: 52,049,560 (GRCm39) |
G6428R |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,087,856 (GRCm39) |
T5448S |
possibly damaging |
Het |
| Or2ag17 |
T |
A |
7: 106,389,552 (GRCm39) |
I219L |
probably benign |
Het |
| Or2t1 |
A |
T |
14: 14,328,284 (GRCm38) |
M58L |
probably damaging |
Het |
| Or52ab7 |
G |
T |
7: 102,977,873 (GRCm39) |
S60I |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,415 (GRCm39) |
Q54L |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,173 (GRCm39) |
M83T |
probably benign |
Het |
| Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
| Phex |
A |
T |
X: 155,960,500 (GRCm39) |
N681K |
probably damaging |
Het |
| Plekha8 |
C |
A |
6: 54,612,755 (GRCm39) |
A454E |
probably damaging |
Het |
| Rbfa |
C |
A |
18: 80,240,506 (GRCm39) |
K152N |
probably benign |
Het |
| Satb2 |
C |
A |
1: 56,884,739 (GRCm39) |
S513I |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,639,879 (GRCm39) |
R520L |
probably benign |
Het |
| Slfn14 |
T |
C |
11: 83,169,826 (GRCm39) |
H606R |
probably benign |
Het |
| Smc1b |
G |
A |
15: 84,982,147 (GRCm39) |
Q716* |
probably null |
Het |
| Syncrip |
C |
T |
9: 88,346,696 (GRCm39) |
|
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,259 (GRCm39) |
I126F |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,804,477 (GRCm39) |
A762V |
probably null |
Het |
| Wdr64 |
C |
A |
1: 175,571,201 (GRCm39) |
|
probably benign |
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 |
|
IGL00927:Dcun1d1
|
APN |
3 |
35,975,114 (GRCm39) |
splice site |
probably benign |
|
|
IGL03092:Dcun1d1
|
APN |
3 |
35,975,141 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
2016-08-02 |
Incidental Mutation