Incidental Mutation 'R3401:Cul5'
| ID |
259194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul5
|
| Ensembl Gene |
ENSMUSG00000032030 |
| Gene Name |
cullin 5 |
| Synonyms |
VACM-1, C030032G03Rik, 4921514I20Rik, C330021I08Rik, 8430423K24Rik |
| MMRRC Submission |
040620-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3401 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
53525881-53578807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53532512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 747
(M747K)
|
| 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
AA Change: M774K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: M774K
| 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: M570K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000113490
Gene: ENSMUSG00000032030
AA Change: M570K
| 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: ENSMUST00000141803
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166367
AA Change: M747K
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: M747K
| 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 |
|
| Meta Mutation Damage Score |
0.0695 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (30/30) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gat1 |
C |
A |
9: 26,667,149 (GRCm39) |
T127K |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Eif1ad |
T |
C |
19: 5,418,276 (GRCm39) |
V20A |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,418,229 (GRCm39) |
V119I |
probably damaging |
Het |
| Fli1 |
G |
A |
9: 32,372,570 (GRCm39) |
S156L |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,635,154 (GRCm39) |
D399E |
probably benign |
Het |
| Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
| Htr2a |
T |
C |
14: 74,882,499 (GRCm39) |
S162P |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,358,411 (GRCm39) |
Q942* |
probably null |
Het |
| Ndrg3 |
C |
T |
2: 156,790,208 (GRCm39) |
V92M |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,628,193 (GRCm39) |
I422M |
possibly damaging |
Het |
| Polr3b |
C |
T |
10: 84,535,355 (GRCm39) |
T888M |
probably damaging |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,705,922 (GRCm39) |
T2323A |
possibly damaging |
Het |
| Sntg2 |
A |
G |
12: 30,338,171 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,534,170 (GRCm39) |
I3476V |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,873,097 (GRCm39) |
|
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,901,707 (GRCm39) |
M334T |
probably benign |
Het |
| Uprt |
A |
G |
X: 103,549,864 (GRCm39) |
D310G |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfp157 |
T |
A |
5: 138,455,273 (GRCm39) |
N490K |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,745 (GRCm39) |
E167G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCAACCCAGAAGAGCATTTC -3'
(R):5'- GGGATTGCCTTAAAGTAAAGCTG -3'
Sequencing Primer
(F):5'- TGTTCTGAAATCCTCTACAGACCAGG -3'
(R):5'- TGCCTTAAAGTAAAGCTGTATGTTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation