Incidental Mutation 'IGL01674:Cul5'
| ID |
103582 |
| 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 # |
IGL01674
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
53525881-53578807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53546307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 328
(E328G)
|
| 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 damaging
Transcript: ENSMUST00000034529
AA Change: E355G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: E355G
| 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 damaging
Transcript: ENSMUST00000120122
AA Change: E151G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030
AA Change: E151G
| 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 damaging
Transcript: ENSMUST00000166367
AA Change: E328G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: E328G
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef39 |
A |
G |
4: 43,497,590 (GRCm39) |
L222P |
probably damaging |
Het |
| Art3 |
T |
A |
5: 92,551,473 (GRCm39) |
Y17* |
probably null |
Het |
| Cadps2 |
A |
G |
6: 23,355,851 (GRCm39) |
L859P |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,322,159 (GRCm39) |
Y218H |
probably damaging |
Het |
| Ces5a |
A |
G |
8: 94,228,847 (GRCm39) |
V461A |
probably damaging |
Het |
| Clic4 |
C |
A |
4: 134,966,204 (GRCm39) |
V51L |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,730,236 (GRCm39) |
L1083P |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,812,350 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
G |
A |
1: 71,645,900 (GRCm39) |
P1527L |
probably damaging |
Het |
| Gm20547 |
T |
A |
17: 35,100,631 (GRCm39) |
Q63L |
probably benign |
Het |
| Gm5089 |
T |
C |
14: 122,673,575 (GRCm39) |
T49A |
unknown |
Het |
| Ippk |
T |
C |
13: 49,602,740 (GRCm39) |
L362S |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,377,593 (GRCm39) |
M138V |
probably benign |
Het |
| Magi3 |
A |
G |
3: 104,013,037 (GRCm39) |
|
probably benign |
Het |
| Mcc |
T |
A |
18: 44,624,223 (GRCm39) |
I266F |
probably benign |
Het |
| Mcph1 |
A |
G |
8: 18,681,535 (GRCm39) |
E224G |
probably damaging |
Het |
| Neurod4 |
A |
T |
10: 130,106,887 (GRCm39) |
L129H |
probably damaging |
Het |
| Or14j5 |
T |
A |
17: 37,920,853 (GRCm39) |
D263V |
probably damaging |
Het |
| Or4c123 |
T |
A |
2: 89,127,014 (GRCm39) |
N200I |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,926 (GRCm39) |
S275P |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,093 (GRCm39) |
Y142C |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,160,630 (GRCm39) |
I2342N |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,105,787 (GRCm39) |
Q632R |
probably benign |
Het |
| Ppp2r2c |
T |
C |
5: 37,097,570 (GRCm39) |
M252T |
possibly damaging |
Het |
| Ppp4r2 |
A |
G |
6: 100,841,644 (GRCm39) |
N142D |
possibly damaging |
Het |
| Prex2 |
G |
T |
1: 11,240,965 (GRCm39) |
K1024N |
probably damaging |
Het |
| Rimklb |
T |
A |
6: 122,436,129 (GRCm39) |
I150F |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,770,218 (GRCm39) |
Q282R |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,669,519 (GRCm39) |
E148G |
probably damaging |
Het |
| Traf7 |
T |
C |
17: 24,729,349 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,998,623 (GRCm39) |
T1622M |
probably damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,911 (GRCm39) |
S195R |
probably damaging |
Het |
| Vmn2r67 |
C |
T |
7: 84,785,651 (GRCm39) |
V785I |
probably damaging |
Het |
| Ythdc2 |
G |
A |
18: 44,993,471 (GRCm39) |
D839N |
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,134,395 (GRCm39) |
|
probably benign |
Het |
| Zfp654 |
T |
C |
16: 64,605,004 (GRCm39) |
N525S |
probably benign |
Het |
|
| Other mutations in Cul5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02043:Cul5
|
APN |
9 |
53,569,973 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02145:Cul5
|
APN |
9 |
53,546,375 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-01-21 |
Incidental Mutation