Incidental Mutation 'R3850:Cul5'
ID |
275884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cul5
|
Ensembl Gene |
ENSMUSG00000032030 |
Gene Name |
cullin 5 |
Synonyms |
VACM-1, C030032G03Rik, 4921514I20Rik, C330021I08Rik, 8430423K24Rik |
MMRRC Submission |
040898-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3850 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
53525881-53578807 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 53529286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 800
(M800L)
|
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 benign
Transcript: ENSMUST00000034529
AA Change: M800L
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000034529 Gene: ENSMUSG00000032030 AA Change: M800L
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: M596L
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113490 Gene: ENSMUSG00000032030 AA Change: M596L
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: M773L
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000133144 Gene: ENSMUSG00000032030 AA Change: M773L
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 |
0.1610 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (59/59) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
C |
T |
4: 53,061,481 (GRCm39) |
|
probably benign |
Het |
Abcc5 |
A |
T |
16: 20,190,906 (GRCm39) |
S815T |
probably benign |
Het |
Adamts17 |
T |
A |
7: 66,490,215 (GRCm39) |
L99Q |
possibly damaging |
Het |
Adamtsl1 |
A |
T |
4: 86,336,783 (GRCm39) |
Q1564L |
probably damaging |
Het |
Als2cl |
A |
G |
9: 110,718,377 (GRCm39) |
|
probably benign |
Het |
Antxrl |
C |
A |
14: 33,789,338 (GRCm39) |
H309Q |
probably benign |
Het |
Ap1g2 |
T |
C |
14: 55,342,363 (GRCm39) |
M165V |
probably benign |
Het |
Cacna2d3 |
A |
G |
14: 29,069,077 (GRCm39) |
|
probably null |
Het |
Cdh16 |
T |
C |
8: 105,344,473 (GRCm39) |
D22G |
possibly damaging |
Het |
Cdh17 |
A |
G |
4: 11,785,201 (GRCm39) |
D331G |
probably damaging |
Het |
Csmd1 |
C |
G |
8: 16,129,936 (GRCm39) |
V1729L |
probably benign |
Het |
Cwf19l1 |
T |
C |
19: 44,119,937 (GRCm39) |
Y68C |
probably benign |
Het |
Dst |
C |
T |
1: 34,228,355 (GRCm39) |
Q1658* |
probably null |
Het |
Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
Fan1 |
T |
C |
7: 64,022,119 (GRCm39) |
Y378C |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,061,410 (GRCm39) |
V4331D |
probably benign |
Het |
Fbxl8 |
T |
C |
8: 105,993,781 (GRCm39) |
S46P |
probably benign |
Het |
Golgb1 |
C |
A |
16: 36,719,095 (GRCm39) |
Q334K |
probably benign |
Het |
Hoxc10 |
T |
C |
15: 102,875,879 (GRCm39) |
V196A |
probably benign |
Het |
Hsf4 |
T |
C |
8: 105,997,469 (GRCm39) |
F101L |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,290,561 (GRCm39) |
I3340T |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,826,426 (GRCm39) |
R123H |
probably benign |
Het |
Mov10l1 |
A |
T |
15: 88,889,898 (GRCm39) |
|
probably null |
Het |
Mrc2 |
T |
C |
11: 105,183,729 (GRCm39) |
|
probably null |
Het |
Muc5b |
G |
A |
7: 141,416,375 (GRCm39) |
C3107Y |
possibly damaging |
Het |
Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
Nek1 |
T |
A |
8: 61,525,349 (GRCm39) |
F596I |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,559,471 (GRCm39) |
T214A |
probably damaging |
Het |
Or4a72 |
T |
C |
2: 89,405,378 (GRCm39) |
R231G |
probably damaging |
Het |
Or5aq1b |
T |
A |
2: 86,902,310 (GRCm39) |
H56L |
possibly damaging |
Het |
Or7d10 |
A |
T |
9: 19,832,105 (GRCm39) |
Y200F |
probably damaging |
Het |
Pcdhga10 |
C |
T |
18: 37,882,074 (GRCm39) |
P612S |
probably damaging |
Het |
Picalm |
A |
G |
7: 89,840,912 (GRCm39) |
N456S |
probably damaging |
Het |
Pigo |
A |
G |
4: 43,025,084 (GRCm39) |
F5S |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,270,004 (GRCm39) |
F563S |
probably damaging |
Het |
Plod2 |
A |
G |
9: 92,424,598 (GRCm39) |
E29G |
probably benign |
Het |
Pm20d2 |
A |
G |
4: 33,174,414 (GRCm39) |
V403A |
probably damaging |
Het |
Proz |
A |
G |
8: 13,123,533 (GRCm39) |
E268G |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,320,337 (GRCm39) |
V1252D |
probably benign |
Het |
Rimbp3 |
A |
T |
16: 17,028,163 (GRCm39) |
H529L |
probably benign |
Het |
Rmdn3 |
A |
T |
2: 118,986,903 (GRCm39) |
H41Q |
possibly damaging |
Het |
Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
Ror1 |
A |
G |
4: 100,299,357 (GRCm39) |
Y910C |
possibly damaging |
Het |
Scn2a |
C |
T |
2: 65,512,375 (GRCm39) |
L171F |
probably benign |
Het |
Sh3pxd2b |
A |
G |
11: 32,361,505 (GRCm39) |
E239G |
probably damaging |
Het |
Smim33 |
G |
A |
18: 35,861,767 (GRCm39) |
V84I |
probably benign |
Het |
Snx27 |
G |
T |
3: 94,427,542 (GRCm39) |
T311K |
probably benign |
Het |
Sspo |
T |
A |
6: 48,469,424 (GRCm39) |
L4459Q |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,095,396 (GRCm39) |
L5241P |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,638 (GRCm39) |
I223N |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,881,752 (GRCm39) |
|
probably null |
Het |
Thap12 |
G |
T |
7: 98,365,870 (GRCm39) |
K679N |
probably damaging |
Het |
Vmn2r65 |
T |
A |
7: 84,595,859 (GRCm39) |
H275L |
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
Zfp229 |
C |
A |
17: 21,964,843 (GRCm39) |
H358N |
probably damaging |
Het |
Zfp687 |
T |
C |
3: 94,915,225 (GRCm39) |
D1092G |
probably damaging |
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 |
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 |
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'- GTCCAAATAAAGCTTCCTCCAG -3'
(R):5'- CTGCTGAGTGAGTCTCCAAATG -3'
Sequencing Primer
(F):5'- TCTGCCCAGGCCTTCAG -3'
(R):5'- CTGAGTGAGTCTCCAAATGATGACC -3'
|
Posted On |
2015-04-06 |