Incidental Mutation 'IGL03196:Cul5'
| ID |
412802 |
| 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 # |
IGL03196
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
53525881-53578807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53537180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 551
(M551L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034529
(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: M551L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: M551L
| 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 |
probably benign
Transcript: ENSMUST00000120122
AA Change: M347L
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030
AA Change: M347L
| 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: ENSMUST00000141180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141803
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166367
AA Change: M524L
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: M524L
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
C |
6: 83,138,045 (GRCm39) |
V57A |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,397,885 (GRCm39) |
V173A |
probably damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,594,597 (GRCm39) |
R4139L |
probably benign |
Het |
| Aqp4 |
T |
G |
18: 15,526,566 (GRCm39) |
D305A |
probably benign |
Het |
| Cadm1 |
T |
C |
9: 47,710,675 (GRCm39) |
S193P |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,432,340 (GRCm39) |
S377P |
possibly damaging |
Het |
| Clic5 |
C |
A |
17: 44,552,960 (GRCm39) |
H71Q |
possibly damaging |
Het |
| Col20a1 |
G |
A |
2: 180,649,671 (GRCm39) |
|
probably null |
Het |
| Col5a1 |
A |
G |
2: 27,865,610 (GRCm39) |
D759G |
unknown |
Het |
| Cplane1 |
A |
T |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
| Cpt1b |
A |
G |
15: 89,308,598 (GRCm39) |
V110A |
probably benign |
Het |
| Cts8 |
C |
T |
13: 61,401,272 (GRCm39) |
G85S |
probably benign |
Het |
| Eno1b |
T |
A |
18: 48,180,558 (GRCm39) |
D245E |
probably damaging |
Het |
| Fgf1 |
A |
T |
18: 38,975,028 (GRCm39) |
Y140* |
probably null |
Het |
| Flt1 |
A |
G |
5: 147,551,937 (GRCm39) |
|
probably null |
Het |
| Fndc7 |
A |
G |
3: 108,790,760 (GRCm39) |
Y89H |
probably damaging |
Het |
| Gm3127 |
A |
T |
14: 15,432,259 (GRCm39) |
M254L |
probably benign |
Het |
| Gm5849 |
T |
C |
3: 90,685,089 (GRCm39) |
E32G |
probably damaging |
Het |
| Gys1 |
T |
C |
7: 45,104,241 (GRCm39) |
|
probably benign |
Het |
| H2ap |
A |
G |
X: 9,713,349 (GRCm39) |
Q27R |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,400,607 (GRCm39) |
V125A |
probably benign |
Het |
| Igkv6-32 |
C |
T |
6: 70,051,042 (GRCm39) |
V105I |
probably benign |
Het |
| Lmo3 |
T |
C |
6: 138,342,993 (GRCm39) |
T140A |
probably benign |
Het |
| Marf1 |
A |
G |
16: 13,958,123 (GRCm39) |
V793A |
possibly damaging |
Het |
| Mep1b |
A |
C |
18: 21,228,121 (GRCm39) |
I575L |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,491,609 (GRCm39) |
I155N |
possibly damaging |
Het |
| Muc2 |
T |
C |
7: 141,301,367 (GRCm39) |
F361L |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,523,510 (GRCm39) |
|
probably benign |
Het |
| Nme6 |
C |
T |
9: 109,670,561 (GRCm39) |
R71W |
probably damaging |
Het |
| Or56b1b |
T |
C |
7: 108,164,061 (GRCm39) |
S314G |
probably benign |
Het |
| Or9g4b |
G |
A |
2: 85,616,365 (GRCm39) |
G170D |
possibly damaging |
Het |
| Or9m2 |
A |
T |
2: 87,820,826 (GRCm39) |
I124F |
possibly damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,930,061 (GRCm39) |
V357I |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,015,913 (GRCm39) |
|
probably benign |
Het |
| Rnf216 |
T |
C |
5: 143,066,766 (GRCm39) |
R474G |
probably damaging |
Het |
| Rpp25l |
A |
G |
4: 41,712,541 (GRCm39) |
V78A |
possibly damaging |
Het |
| Sh3bp2 |
C |
A |
5: 34,714,687 (GRCm39) |
P245Q |
probably damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,151 (GRCm39) |
F154S |
possibly damaging |
Het |
| Wasf2 |
T |
A |
4: 132,921,732 (GRCm39) |
S284T |
unknown |
Het |
| Wdtc1 |
T |
C |
4: 133,022,648 (GRCm39) |
E566G |
probably damaging |
Het |
| Zcchc14 |
C |
T |
8: 122,335,877 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation