Incidental Mutation 'IGL03190:Cul2'
| ID |
412605 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cul2
|
| Ensembl Gene |
ENSMUSG00000024231 |
| Gene Name |
cullin 2 |
| Synonyms |
4932411N15Rik, 1300003D18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
IGL03190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
3382988-3436377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3429634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 498
(T498I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025073]
[ENSMUST00000080089]
[ENSMUST00000161317]
[ENSMUST00000162301]
|
| AlphaFold |
Q9D4H8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025073
AA Change: T561I
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
AA Change: T561I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ldja2
|
11 |
386 |
1e-109 |
SMART |
|
CULLIN
|
416 |
568 |
1.19e-84 |
SMART |
|
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
|
Pfam:Cullin_Nedd8
|
651 |
700 |
9.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080089
|
| SMART Domains |
Protein: ENSMUSP00000078988
Gene: ENSMUSG00000024231
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cullin
|
14 |
88 |
2.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159443
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161317
AA Change: T498I
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231
AA Change: T498I
| Domain | Start | End | E-Value | Type |
|---|
|
CULLIN
|
353 |
505 |
1.19e-84 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161852
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162301
AA Change: T561I
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: T561I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ldja2
|
11 |
386 |
1e-108 |
SMART |
|
CULLIN
|
416 |
568 |
1.19e-84 |
SMART |
|
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
|
Cullin_Nedd8
|
672 |
739 |
1.01e-33 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,016,510 (GRCm39) |
C314S |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,048,634 (GRCm39) |
I128N |
probably damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,496,412 (GRCm39) |
I91T |
possibly damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,990,909 (GRCm39) |
I221V |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,141,766 (GRCm39) |
M1129K |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,031,491 (GRCm39) |
Q670L |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,806,185 (GRCm39) |
Y483C |
probably damaging |
Het |
| Bcan |
A |
T |
3: 87,900,357 (GRCm39) |
|
probably benign |
Het |
| Bcl11a |
G |
A |
11: 24,108,333 (GRCm39) |
E104K |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,673,208 (GRCm39) |
Q368* |
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,267,037 (GRCm39) |
Y71N |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,035,390 (GRCm39) |
D3014G |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,445,636 (GRCm39) |
|
probably benign |
Het |
| Il36g |
C |
A |
2: 24,077,272 (GRCm39) |
S28* |
probably null |
Het |
| Itgb3bp |
A |
G |
4: 99,677,923 (GRCm39) |
|
probably benign |
Het |
| Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
| Klk1b26 |
T |
C |
7: 43,662,151 (GRCm39) |
F3S |
possibly damaging |
Het |
| Lin52 |
T |
C |
12: 84,504,732 (GRCm39) |
V39A |
probably damaging |
Het |
| Magt1 |
A |
C |
X: 105,032,622 (GRCm39) |
N242K |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,588,627 (GRCm39) |
M1118V |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,734 (GRCm39) |
M136K |
probably damaging |
Het |
| Or6k2 |
T |
C |
1: 173,987,110 (GRCm39) |
V257A |
probably damaging |
Het |
| Paqr5 |
A |
C |
9: 61,880,084 (GRCm39) |
L56R |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,396 (GRCm39) |
F452S |
probably damaging |
Het |
| Prdm5 |
T |
A |
6: 65,833,116 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
A |
G |
12: 100,524,907 (GRCm39) |
|
probably benign |
Het |
| Slc22a5 |
A |
G |
11: 53,765,840 (GRCm39) |
F249L |
probably benign |
Het |
| Spata31f1a |
C |
A |
4: 42,848,362 (GRCm39) |
G1265C |
probably benign |
Het |
| Ttll2 |
T |
C |
17: 7,618,779 (GRCm39) |
K383E |
probably benign |
Het |
| Ube2o |
G |
A |
11: 116,435,954 (GRCm39) |
P353L |
probably damaging |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,110 (GRCm39) |
D174G |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,192,643 (GRCm39) |
|
probably null |
Het |
| Xpnpep2 |
T |
A |
X: 47,207,205 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,111,994 (GRCm39) |
S45T |
possibly damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,855 (GRCm39) |
|
probably benign |
Het |
| Zfyve19 |
G |
A |
2: 119,046,717 (GRCm39) |
A304T |
probably damaging |
Het |
|
| Other mutations in Cul2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Cul2
|
APN |
18 |
3,423,487 (GRCm39) |
missense |
probably benign |
|
|
IGL01293:Cul2
|
APN |
18 |
3,419,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02719:Cul2
|
APN |
18 |
3,434,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02886:Cul2
|
APN |
18 |
3,426,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL03389:Cul2
|
APN |
18 |
3,431,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03409:Cul2
|
APN |
18 |
3,429,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Cul2
|
UTSW |
18 |
3,414,115 (GRCm39) |
splice site |
probably benign |
|
|
R1013:Cul2
|
UTSW |
18 |
3,425,535 (GRCm39) |
nonsense |
probably null |
|
|
R1119:Cul2
|
UTSW |
18 |
3,419,335 (GRCm39) |
splice site |
probably benign |
|
|
R1743:Cul2
|
UTSW |
18 |
3,426,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Cul2
|
UTSW |
18 |
3,414,164 (GRCm39) |
missense |
probably benign |
|
|
R2252:Cul2
|
UTSW |
18 |
3,399,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2253:Cul2
|
UTSW |
18 |
3,399,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Cul2
|
UTSW |
18 |
3,434,033 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4386:Cul2
|
UTSW |
18 |
3,434,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Cul2
|
UTSW |
18 |
3,430,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4828:Cul2
|
UTSW |
18 |
3,431,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6085:Cul2
|
UTSW |
18 |
3,431,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6429:Cul2
|
UTSW |
18 |
3,421,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6480:Cul2
|
UTSW |
18 |
3,417,561 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6805:Cul2
|
UTSW |
18 |
3,421,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Cul2
|
UTSW |
18 |
3,434,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7343:Cul2
|
UTSW |
18 |
3,426,873 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7690:Cul2
|
UTSW |
18 |
3,419,420 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8114:Cul2
|
UTSW |
18 |
3,426,164 (GRCm39) |
nonsense |
probably null |
|
|
R8414:Cul2
|
UTSW |
18 |
3,399,912 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8736:Cul2
|
UTSW |
18 |
3,434,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8849:Cul2
|
UTSW |
18 |
3,423,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Cul2
|
UTSW |
18 |
3,423,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9443:Cul2
|
UTSW |
18 |
3,434,041 (GRCm39) |
nonsense |
probably null |
|
|
R9709:Cul2
|
UTSW |
18 |
3,431,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Cul2
|
UTSW |
18 |
3,419,435 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2016-08-02 |
Incidental Mutation