Incidental Mutation 'R9496:Dcun1d4'
| ID |
717213 |
| 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) |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R9496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
73638353-73718137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 73668272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 37
(H37Q)
|
| 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 damaging
Transcript: ENSMUST00000063882
AA Change: H23Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067616
Gene: ENSMUSG00000051674
AA Change: H23Q
| 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 damaging
Transcript: ENSMUST00000087181
AA Change: H37Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000084427
Gene: ENSMUSG00000051674
AA Change: H37Q
| 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 damaging
Transcript: ENSMUST00000113558
AA Change: H23Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109187
Gene: ENSMUSG00000051674
AA Change: H23Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
Pfam:Cullin_binding
|
203 |
252 |
2e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133137
AA Change: H23Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120055
Gene: ENSMUSG00000051674
AA Change: H23Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134092
AA Change: H23Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118710
Gene: ENSMUSG00000051674
AA Change: H23Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
A |
T |
19: 6,310,022 (GRCm39) |
Q1735L |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,040,453 (GRCm39) |
D958G |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,356,711 (GRCm39) |
F142L |
probably benign |
Het |
| Calcoco1 |
C |
T |
15: 102,619,876 (GRCm39) |
A303T |
probably benign |
Het |
| Chat |
C |
A |
14: 32,148,119 (GRCm39) |
C306F |
probably benign |
Het |
| Ciita |
T |
G |
16: 10,298,009 (GRCm39) |
M1R |
probably null |
Het |
| Ckap2l |
A |
C |
2: 129,112,595 (GRCm39) |
S638A |
probably benign |
Het |
| Coro1c |
C |
T |
5: 113,983,337 (GRCm39) |
G397D |
probably benign |
Het |
| Cyb5r2 |
A |
G |
7: 107,353,954 (GRCm39) |
V72A |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,271,164 (GRCm39) |
T314A |
probably benign |
Het |
| Dgkd |
T |
A |
1: 87,857,464 (GRCm39) |
S725R |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,089,460 (GRCm39) |
Y744H |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,004,885 (GRCm39) |
N916S |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,855,853 (GRCm39) |
K1287E |
unknown |
Het |
| Epo |
C |
T |
5: 137,482,401 (GRCm39) |
V89I |
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,397,291 (GRCm39) |
I3N |
probably benign |
Het |
| Fcgr3 |
A |
C |
1: 170,879,386 (GRCm39) |
Y219D |
possibly damaging |
Het |
| Fign |
A |
T |
2: 63,809,253 (GRCm39) |
C672* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,793,062 (GRCm39) |
R406S |
probably benign |
Het |
| Gli2 |
A |
G |
1: 118,764,425 (GRCm39) |
V1242A |
probably benign |
Het |
| Gm10577 |
C |
T |
4: 100,877,745 (GRCm39) |
C50Y |
unknown |
Het |
| Gm11568 |
GCTGCTGCCAGCCCTGCTGCCAGCCC |
GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC |
11: 99,749,044 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,291,571 (GRCm39) |
L826P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,579,971 (GRCm39) |
D1922G |
probably benign |
Het |
| Itga2b |
C |
T |
11: 102,358,629 (GRCm39) |
C96Y |
probably damaging |
Het |
| Itih2 |
A |
T |
2: 10,106,984 (GRCm39) |
I670N |
probably benign |
Het |
| Lypla1 |
A |
T |
1: 4,898,813 (GRCm39) |
|
probably benign |
Het |
| Mettl16 |
T |
C |
11: 74,707,696 (GRCm39) |
S337P |
possibly damaging |
Het |
| Myh11 |
G |
A |
16: 14,048,616 (GRCm39) |
Q564* |
probably null |
Het |
| Myrf |
A |
G |
19: 10,193,840 (GRCm39) |
F529L |
probably benign |
Het |
| Nell2 |
T |
G |
15: 95,194,097 (GRCm39) |
I539L |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,685,502 (GRCm39) |
V646E |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,102,762 (GRCm39) |
T289A |
|
Het |
| Obsl1 |
C |
T |
1: 75,467,484 (GRCm39) |
C1430Y |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,890,505 (GRCm39) |
L18P |
unknown |
Het |
| Pkd1l1 |
C |
A |
11: 8,783,773 (GRCm39) |
|
probably null |
Het |
| Pum1 |
T |
C |
4: 130,446,664 (GRCm39) |
|
probably null |
Het |
| Rhbdl1 |
A |
T |
17: 26,055,371 (GRCm39) |
|
probably null |
Het |
| Rmdn2 |
T |
A |
17: 79,975,425 (GRCm39) |
L305I |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,312,493 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
G |
T |
19: 58,963,457 (GRCm39) |
S619R |
probably damaging |
Het |
| Smpd1 |
G |
A |
7: 105,205,202 (GRCm39) |
|
probably null |
Het |
| Tepsin |
A |
G |
11: 119,982,357 (GRCm39) |
L571S |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tssk5 |
T |
C |
15: 76,258,856 (GRCm39) |
D10G |
probably benign |
Het |
| Usp39 |
A |
G |
6: 72,302,759 (GRCm39) |
Y432H |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,227 (GRCm39) |
V205D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,258,122 (GRCm39) |
V757A |
probably benign |
Het |
| Zc2hc1b |
A |
T |
10: 13,044,540 (GRCm39) |
F41Y |
probably damaging |
Het |
| Zfp1007 |
A |
G |
5: 109,823,924 (GRCm39) |
S509P |
probably damaging |
Het |
| Zfp114 |
A |
T |
7: 23,880,463 (GRCm39) |
S271C |
possibly 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 |
|
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 |
|
|
X0063:Dcun1d4
|
UTSW |
5 |
73,712,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGACTGTACTGTTGGAGCG -3'
(R):5'- AGAAATCGCACATCCTACGG -3'
Sequencing Primer
(F):5'- ACTGTACTGTTGGAGCGTATTCC -3'
(R):5'- GGTAAGCACGAAAACTCAGTATTGTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation