Incidental Mutation 'IGL02886:Cul2'
| ID |
363037 |
| 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 # |
IGL02886
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
3382988-3436377 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 3426920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025073]
[ENSMUST00000080089]
[ENSMUST00000161317]
[ENSMUST00000162301]
|
| AlphaFold |
Q9D4H8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025073
|
| SMART Domains |
Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
| 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 |
probably benign
Transcript: ENSMUST00000161317
|
| SMART Domains |
Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231
| Domain | Start | End | E-Value | Type |
|---|
|
CULLIN
|
353 |
505 |
1.19e-84 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161852
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162301
|
| SMART Domains |
Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,921,863 (GRCm39) |
C1140S |
probably damaging |
Het |
| Abhd12b |
T |
C |
12: 70,229,740 (GRCm39) |
I238T |
possibly damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,543,991 (GRCm39) |
|
probably null |
Het |
| Baz2b |
A |
T |
2: 59,788,087 (GRCm39) |
|
probably null |
Het |
| Brwd3 |
T |
C |
X: 107,794,454 (GRCm39) |
Y1410C |
probably damaging |
Het |
| Casp7 |
T |
A |
19: 56,421,775 (GRCm39) |
I71N |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,804,672 (GRCm39) |
I1828F |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,986,700 (GRCm39) |
D5409G |
possibly damaging |
Het |
| Fam187a |
A |
T |
11: 102,777,380 (GRCm39) |
T395S |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,793,297 (GRCm39) |
V244A |
possibly damaging |
Het |
| Fubp1 |
A |
G |
3: 151,926,392 (GRCm39) |
E333G |
possibly damaging |
Het |
| Ganab |
G |
T |
19: 8,888,391 (GRCm39) |
|
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,677,952 (GRCm39) |
S170P |
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Klhl11 |
T |
C |
11: 100,363,047 (GRCm39) |
S170G |
possibly damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,777,090 (GRCm39) |
|
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,901,534 (GRCm39) |
V613A |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,276,055 (GRCm39) |
F757L |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,059,169 (GRCm39) |
|
probably benign |
Het |
| Myocd |
T |
A |
11: 65,069,569 (GRCm39) |
D837V |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,984 (GRCm39) |
Q513R |
possibly damaging |
Het |
| Nol4l |
A |
G |
2: 153,371,457 (GRCm39) |
F76L |
probably benign |
Het |
| Or10ak7 |
T |
C |
4: 118,792,027 (GRCm39) |
E6G |
probably benign |
Het |
| Or2b2b |
T |
A |
13: 21,859,122 (GRCm39) |
|
probably benign |
Het |
| Or5b98 |
T |
A |
19: 12,931,882 (GRCm39) |
S310T |
probably benign |
Het |
| Pck1 |
G |
A |
2: 172,996,649 (GRCm39) |
E188K |
probably benign |
Het |
| Pdcd11 |
T |
C |
19: 47,102,064 (GRCm39) |
V1083A |
possibly damaging |
Het |
| Primpol |
G |
A |
8: 47,046,619 (GRCm39) |
Q226* |
probably null |
Het |
| Rbm15 |
A |
C |
3: 107,233,611 (GRCm39) |
V959G |
probably benign |
Het |
| Rorb |
A |
G |
19: 18,954,943 (GRCm39) |
|
probably null |
Het |
| Spata9 |
T |
C |
13: 76,125,853 (GRCm39) |
L112P |
probably damaging |
Het |
| Stk24 |
A |
T |
14: 121,529,527 (GRCm39) |
L375Q |
probably null |
Het |
| Svip |
A |
G |
7: 51,655,509 (GRCm39) |
S11P |
possibly damaging |
Het |
| Taf13 |
T |
C |
3: 108,488,500 (GRCm39) |
|
probably benign |
Het |
| Tex30 |
T |
C |
1: 44,127,683 (GRCm39) |
Y7C |
probably damaging |
Het |
| Tmem68 |
T |
C |
4: 3,569,361 (GRCm39) |
|
probably benign |
Het |
| Tnc |
T |
C |
4: 63,918,344 (GRCm39) |
E1189G |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,365,688 (GRCm38) |
S4P |
possibly damaging |
Het |
| Trav3-3 |
C |
A |
14: 53,903,822 (GRCm39) |
L47I |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,733,557 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,323,811 (GRCm39) |
|
probably benign |
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 |
|
IGL03190:Cul2
|
APN |
18 |
3,429,634 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2015-12-18 |
Incidental Mutation