Incidental Mutation 'PIT4402001:Dcun1d4'
| ID |
555516 |
| 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) |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
PIT4402001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
73638353-73718137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73668276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 39
(I39V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084427
(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: I25V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000067616
Gene: ENSMUSG00000051674
AA Change: I25V
| 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: I39V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000084427
Gene: ENSMUSG00000051674
AA Change: I39V
| 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: I25V
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109187
Gene: ENSMUSG00000051674
AA Change: I25V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
Pfam:Cullin_binding
|
203 |
252 |
2e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133137
AA Change: I25V
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120055
Gene: ENSMUSG00000051674
AA Change: I25V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134092
AA Change: I25V
PolyPhen 2
Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118710
Gene: ENSMUSG00000051674
AA Change: I25V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136268
|
| SMART Domains |
Protein: ENSMUSP00000119983
Gene: ENSMUSG00000051674
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GBA|B
|
42 |
104 |
2e-8 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141553
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145645
|
| SMART Domains |
Protein: ENSMUSP00000122689
Gene: ENSMUSG00000051674
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GBA|B
|
42 |
101 |
1e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156806
|
| Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.3%
- 10x: 83.2%
- 20x: 68.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
G |
14: 59,380,084 (GRCm39) |
L71F |
probably damaging |
Het |
| Adamts9 |
C |
T |
6: 92,849,328 (GRCm39) |
V1044I |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,115,497 (GRCm39) |
Y207C |
probably damaging |
Het |
| Aldh4a1 |
C |
A |
4: 139,369,502 (GRCm39) |
S351* |
probably null |
Het |
| Aoah |
C |
A |
13: 20,978,680 (GRCm39) |
S39R |
probably benign |
Het |
| Arcn1 |
A |
T |
9: 44,656,899 (GRCm39) |
V421E |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,306,485 (GRCm39) |
E300G |
possibly damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,557 (GRCm39) |
R126S |
probably damaging |
Het |
| Fam53b |
A |
T |
7: 132,361,746 (GRCm39) |
I94N |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,594,422 (GRCm39) |
H652R |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,039,803 (GRCm39) |
M157K |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,615,049 (GRCm39) |
I299N |
probably damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gns |
A |
G |
10: 121,212,611 (GRCm39) |
Y191C |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,462,063 (GRCm39) |
T690A |
possibly damaging |
Het |
| Gsk3b |
C |
T |
16: 37,909,763 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,233,000 (GRCm39) |
V1911A |
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,334,393 (GRCm39) |
K157E |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,091,369 (GRCm39) |
Y118H |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,752,359 (GRCm39) |
V1413A |
unknown |
Het |
| Mettl9 |
T |
A |
7: 120,656,440 (GRCm39) |
V190E |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,935,258 (GRCm39) |
L188P |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,777,719 (GRCm39) |
R1158S |
possibly damaging |
Het |
| Nacad |
T |
G |
11: 6,548,621 (GRCm39) |
Q1371P |
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,344,987 (GRCm39) |
M787V |
probably benign |
Het |
| Noxred1 |
A |
T |
12: 87,273,855 (GRCm39) |
I62K |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,316 (GRCm39) |
H86L |
probably benign |
Het |
| Or2d3b |
T |
A |
7: 106,514,294 (GRCm39) |
D296E |
possibly damaging |
Het |
| Or2y17 |
A |
G |
11: 49,232,226 (GRCm39) |
Y289C |
probably damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,657 (GRCm39) |
Y57C |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,818,185 (GRCm39) |
Y239H |
probably damaging |
Het |
| Pank1 |
A |
G |
19: 34,818,366 (GRCm39) |
Y233H |
probably damaging |
Het |
| Pccb |
G |
T |
9: 100,877,645 (GRCm39) |
D286E |
probably benign |
Het |
| Plek |
A |
C |
11: 16,940,121 (GRCm39) |
L196R |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,299,931 (GRCm39) |
H576R |
|
Het |
| Rbm47 |
T |
A |
5: 66,184,354 (GRCm39) |
Y83F |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,665,049 (GRCm39) |
Y787N |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,868,419 (GRCm39) |
A217E |
probably damaging |
Het |
| Suox |
G |
A |
10: 128,507,164 (GRCm39) |
A288V |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,640,873 (GRCm39) |
I501M |
probably damaging |
Het |
| Tjp2 |
C |
A |
19: 24,075,493 (GRCm39) |
G1042* |
probably null |
Het |
| Tmtc2 |
T |
C |
10: 105,249,268 (GRCm39) |
Y155C |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,516,359 (GRCm39) |
N600S |
probably benign |
Het |
| Zer1 |
T |
C |
2: 29,991,132 (GRCm39) |
I699V |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,618,687 (GRCm39) |
F227S |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTTGTAAGTGTCCTGCTAG -3'
(R):5'- TGATCGTCTTGGCCAACGTC -3'
Sequencing Primer
(F):5'- GTCGAGCTACTAGGACAACTATACG -3'
(R):5'- CAACGTCTTCTGTCAGATTCTGTAAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation