Incidental Mutation 'IGL02145:Cul5'
ID |
281738 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cul5
|
Ensembl Gene |
ENSMUSG00000032030 |
Gene Name |
cullin 5 |
Synonyms |
VACM-1, C030032G03Rik, 4921514I20Rik, C330021I08Rik, 8430423K24Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02145
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
53525881-53578807 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 53546375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133144
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034529]
[ENSMUST00000120122]
[ENSMUST00000166367]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034529
|
SMART Domains |
Protein: ENSMUSP00000034529 Gene: ENSMUSG00000032030
Domain | Start | End | E-Value | Type |
PDB:2WZK|A
|
76 |
461 |
N/A |
PDB |
SCOP:d1ldja2
|
91 |
459 |
1e-109 |
SMART |
CULLIN
|
510 |
661 |
1.12e-80 |
SMART |
Cullin_Nedd8
|
782 |
849 |
5.12e-17 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082688
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120122
|
SMART Domains |
Protein: ENSMUSP00000113490 Gene: ENSMUSG00000032030
Domain | Start | End | E-Value | Type |
PDB:4JGH|D
|
1 |
258 |
N/A |
PDB |
SCOP:d1ldja2
|
5 |
255 |
2e-75 |
SMART |
CULLIN
|
306 |
457 |
1.12e-80 |
SMART |
Cullin_Nedd8
|
578 |
645 |
5.12e-17 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123499
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141180
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166367
|
SMART Domains |
Protein: ENSMUSP00000133144 Gene: ENSMUSG00000032030
Domain | Start | End | E-Value | Type |
PDB:2WZK|A
|
76 |
434 |
N/A |
PDB |
SCOP:d1ldja2
|
91 |
432 |
9e-99 |
SMART |
CULLIN
|
483 |
634 |
1.12e-80 |
SMART |
Cullin_Nedd8
|
755 |
822 |
5.12e-17 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality. Mice heterozygous for a null allele exhibit decreased susceptibility to LPS-induced lung injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agt |
A |
G |
8: 125,291,187 (GRCm39) |
L40P |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,980,219 (GRCm39) |
I501T |
probably benign |
Het |
Aldh2 |
A |
G |
5: 121,706,056 (GRCm39) |
*196Q |
probably null |
Het |
Ankrd65 |
A |
G |
4: 155,875,848 (GRCm39) |
D23G |
possibly damaging |
Het |
Anln |
A |
T |
9: 22,250,292 (GRCm39) |
|
probably null |
Het |
Armc3 |
C |
T |
2: 19,301,671 (GRCm39) |
S663L |
possibly damaging |
Het |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Cyba |
T |
C |
8: 123,151,796 (GRCm39) |
I134V |
probably damaging |
Het |
Cybb |
T |
A |
X: 9,323,257 (GRCm39) |
Q93H |
probably damaging |
Het |
Cyp4f37 |
G |
T |
17: 32,849,009 (GRCm39) |
K292N |
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,281,981 (GRCm39) |
I2850V |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,485,367 (GRCm39) |
I118T |
unknown |
Het |
Ercc6l |
G |
T |
X: 101,189,148 (GRCm39) |
P454T |
probably benign |
Het |
Grxcr1 |
A |
G |
5: 68,267,821 (GRCm39) |
E190G |
probably damaging |
Het |
Heatr3 |
C |
T |
8: 88,871,227 (GRCm39) |
R194C |
probably benign |
Het |
Hspa12b |
C |
T |
2: 130,985,655 (GRCm39) |
|
probably benign |
Het |
Inpp5d |
T |
C |
1: 87,642,777 (GRCm39) |
V644A |
probably damaging |
Het |
Kif26a |
G |
A |
12: 112,143,409 (GRCm39) |
R1221H |
probably benign |
Het |
Klra8 |
T |
C |
6: 130,102,199 (GRCm39) |
N79D |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,900,661 (GRCm39) |
I253T |
possibly damaging |
Het |
Lamp5 |
T |
C |
2: 135,901,509 (GRCm39) |
V111A |
possibly damaging |
Het |
Lmo7 |
T |
C |
14: 102,139,659 (GRCm39) |
S859P |
probably benign |
Het |
Mgarp |
T |
C |
3: 51,296,453 (GRCm39) |
Q205R |
possibly damaging |
Het |
Morf4l1 |
A |
G |
9: 89,975,848 (GRCm39) |
Y315H |
probably benign |
Het |
Naip6 |
A |
T |
13: 100,433,486 (GRCm39) |
V1117E |
possibly damaging |
Het |
Nipal1 |
A |
G |
5: 72,824,274 (GRCm39) |
D206G |
probably damaging |
Het |
Notch3 |
A |
G |
17: 32,373,715 (GRCm39) |
S498P |
probably benign |
Het |
Npepps |
A |
G |
11: 97,109,328 (GRCm39) |
|
probably null |
Het |
Or14c46 |
C |
A |
7: 85,918,466 (GRCm39) |
C177F |
probably damaging |
Het |
Or2ak6 |
T |
C |
11: 58,592,886 (GRCm39) |
Y120H |
probably damaging |
Het |
Phlpp1 |
A |
G |
1: 106,317,613 (GRCm39) |
H1278R |
probably damaging |
Het |
Pprc1 |
C |
A |
19: 46,053,329 (GRCm39) |
|
probably benign |
Het |
Rab8b |
A |
T |
9: 66,755,000 (GRCm39) |
|
probably benign |
Het |
Ripor2 |
T |
A |
13: 24,901,554 (GRCm39) |
I875N |
probably damaging |
Het |
Samd9l |
T |
C |
6: 3,374,105 (GRCm39) |
E1052G |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,520,569 (GRCm39) |
I569F |
probably damaging |
Het |
Spata2l |
C |
T |
8: 123,960,770 (GRCm39) |
G173D |
possibly damaging |
Het |
Stc2 |
T |
G |
11: 31,317,875 (GRCm39) |
|
probably benign |
Het |
Tm6sf1 |
C |
A |
7: 81,513,000 (GRCm39) |
Y65* |
probably null |
Het |
Tspan15 |
A |
G |
10: 62,029,751 (GRCm39) |
|
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,368,454 (GRCm39) |
Y179* |
probably null |
Het |
Washc5 |
C |
A |
15: 59,241,060 (GRCm39) |
V92L |
probably benign |
Het |
Wiz |
A |
G |
17: 32,575,893 (GRCm39) |
S838P |
probably benign |
Het |
Zp2 |
T |
A |
7: 119,739,074 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cul5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01674:Cul5
|
APN |
9 |
53,546,307 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02043:Cul5
|
APN |
9 |
53,569,973 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02261:Cul5
|
APN |
9 |
53,546,337 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02281:Cul5
|
APN |
9 |
53,546,349 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02639:Cul5
|
APN |
9 |
53,566,642 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02697:Cul5
|
APN |
9 |
53,566,631 (GRCm39) |
missense |
probably benign |
|
IGL02752:Cul5
|
APN |
9 |
53,546,278 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03017:Cul5
|
APN |
9 |
53,555,785 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03031:Cul5
|
APN |
9 |
53,553,975 (GRCm39) |
splice site |
probably benign |
|
IGL03196:Cul5
|
APN |
9 |
53,537,180 (GRCm39) |
missense |
probably damaging |
0.99 |
R0142:Cul5
|
UTSW |
9 |
53,546,350 (GRCm39) |
missense |
probably damaging |
0.98 |
R0415:Cul5
|
UTSW |
9 |
53,578,370 (GRCm39) |
missense |
probably benign |
0.00 |
R1619:Cul5
|
UTSW |
9 |
53,569,893 (GRCm39) |
missense |
probably benign |
0.00 |
R1675:Cul5
|
UTSW |
9 |
53,557,983 (GRCm39) |
missense |
probably benign |
0.00 |
R2031:Cul5
|
UTSW |
9 |
53,578,480 (GRCm39) |
missense |
probably benign |
|
R2059:Cul5
|
UTSW |
9 |
53,578,456 (GRCm39) |
missense |
probably damaging |
0.98 |
R3401:Cul5
|
UTSW |
9 |
53,532,512 (GRCm39) |
missense |
probably benign |
0.02 |
R3427:Cul5
|
UTSW |
9 |
53,529,190 (GRCm39) |
missense |
probably benign |
|
R3701:Cul5
|
UTSW |
9 |
53,540,516 (GRCm39) |
missense |
probably damaging |
0.99 |
R3702:Cul5
|
UTSW |
9 |
53,540,516 (GRCm39) |
missense |
probably damaging |
0.99 |
R3815:Cul5
|
UTSW |
9 |
53,534,243 (GRCm39) |
missense |
probably benign |
0.31 |
R3848:Cul5
|
UTSW |
9 |
53,529,286 (GRCm39) |
missense |
probably benign |
0.34 |
R3849:Cul5
|
UTSW |
9 |
53,529,286 (GRCm39) |
missense |
probably benign |
0.34 |
R3850:Cul5
|
UTSW |
9 |
53,529,286 (GRCm39) |
missense |
probably benign |
0.34 |
R4592:Cul5
|
UTSW |
9 |
53,545,027 (GRCm39) |
splice site |
probably benign |
|
R4690:Cul5
|
UTSW |
9 |
53,534,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R5154:Cul5
|
UTSW |
9 |
53,537,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R5173:Cul5
|
UTSW |
9 |
53,554,034 (GRCm39) |
missense |
probably benign |
|
R5645:Cul5
|
UTSW |
9 |
53,534,243 (GRCm39) |
missense |
probably benign |
0.17 |
R5868:Cul5
|
UTSW |
9 |
53,569,973 (GRCm39) |
missense |
probably benign |
0.26 |
R5975:Cul5
|
UTSW |
9 |
53,534,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R6251:Cul5
|
UTSW |
9 |
53,558,094 (GRCm39) |
missense |
probably benign |
0.40 |
R6284:Cul5
|
UTSW |
9 |
53,535,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R6415:Cul5
|
UTSW |
9 |
53,557,983 (GRCm39) |
missense |
probably benign |
0.00 |
R7178:Cul5
|
UTSW |
9 |
53,555,826 (GRCm39) |
missense |
probably benign |
0.01 |
R7511:Cul5
|
UTSW |
9 |
53,537,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R7923:Cul5
|
UTSW |
9 |
53,535,466 (GRCm39) |
missense |
probably benign |
0.00 |
R7940:Cul5
|
UTSW |
9 |
53,535,069 (GRCm39) |
missense |
probably benign |
0.21 |
R8481:Cul5
|
UTSW |
9 |
53,558,123 (GRCm39) |
missense |
probably benign |
0.00 |
R9483:Cul5
|
UTSW |
9 |
53,532,474 (GRCm39) |
missense |
probably benign |
0.10 |
X0018:Cul5
|
UTSW |
9 |
53,534,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |