Incidental Mutation 'R2031:Cul5'
| ID |
221248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul5
|
| Ensembl Gene |
ENSMUSG00000032030 |
| Gene Name |
cullin 5 |
| Synonyms |
VACM-1, C030032G03Rik, C330021I08Rik, 8430423K24Rik, 4921514I20Rik |
| MMRRC Submission |
040038-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2031 (G1)
|
| Quality Score |
162 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
53614582-53670014 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53667180 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 36
(V36A)
|
| 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: V36A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: V36A
| 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
|
| 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 |
probably benign
Transcript: ENSMUST00000133872
|
| SMART Domains |
Protein: ENSMUSP00000121734
Gene: ENSMUSG00000032030
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2WZK|A
|
5 |
49 |
4e-25 |
PDB |
|
SCOP:d1ldja2
|
20 |
49 |
1e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146938
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166367
AA Change: V36A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: V36A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (55/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
G |
T |
5: 121,501,055 (GRCm38) |
N642K |
possibly damaging |
Het |
| Akap11 |
T |
A |
14: 78,510,037 (GRCm38) |
I1637L |
possibly damaging |
Het |
| Arhgap28 |
G |
T |
17: 67,896,116 (GRCm38) |
T114N |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 68,278,688 (GRCm38) |
|
probably null |
Het |
| Atp10a |
T |
A |
7: 58,827,930 (GRCm38) |
C1292* |
probably null |
Het |
| Casp4 |
A |
G |
9: 5,321,401 (GRCm38) |
S51G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,798,652 (GRCm38) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,841,687 (GRCm38) |
F736L |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,504,074 (GRCm38) |
S1203P |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,512,400 (GRCm38) |
|
probably null |
Het |
| Cep85 |
A |
G |
4: 134,132,450 (GRCm38) |
V634A |
probably benign |
Het |
| Cpeb3 |
C |
T |
19: 37,044,679 (GRCm38) |
R589H |
probably damaging |
Het |
| Crebrf |
T |
G |
17: 26,742,921 (GRCm38) |
S331A |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,727,470 (GRCm38) |
|
probably benign |
Het |
| Doxl2 |
T |
C |
6: 48,975,855 (GRCm38) |
V238A |
probably damaging |
Het |
| Dstyk |
G |
A |
1: 132,453,191 (GRCm38) |
A475T |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,053,614 (GRCm38) |
P151Q |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,354,424 (GRCm38) |
Y765H |
probably damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,636,317 (GRCm38) |
S354T |
probably benign |
Het |
| Ifi204 |
A |
C |
1: 173,752,777 (GRCm38) |
F389C |
probably damaging |
Het |
| Ikbip |
T |
C |
10: 91,096,612 (GRCm38) |
Y373H |
probably benign |
Het |
| Kbtbd11 |
C |
A |
8: 15,028,021 (GRCm38) |
P207T |
possibly damaging |
Het |
| Krt73 |
A |
C |
15: 101,798,764 (GRCm38) |
|
probably benign |
Het |
| Mfsd6 |
T |
A |
1: 52,708,854 (GRCm38) |
Q284L |
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,368,607 (GRCm38) |
D415V |
possibly damaging |
Het |
| Mrc1 |
A |
T |
2: 14,321,773 (GRCm38) |
T1161S |
probably damaging |
Het |
| Ms4a18 |
A |
G |
19: 11,013,650 (GRCm38) |
S27P |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,638,400 (GRCm38) |
S2120F |
possibly damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,188,592 (GRCm38) |
R2366S |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,491,152 (GRCm38) |
L172P |
probably damaging |
Het |
| Nrros |
C |
T |
16: 32,144,157 (GRCm38) |
W311* |
probably null |
Het |
| Olfr1212 |
A |
G |
2: 88,959,299 (GRCm38) |
T278A |
probably benign |
Het |
| Olfr1436 |
A |
T |
19: 12,298,376 (GRCm38) |
V252D |
probably damaging |
Het |
| Olfr1466 |
T |
C |
19: 13,342,406 (GRCm38) |
L216S |
probably benign |
Het |
| Olfr412 |
A |
G |
11: 74,364,951 (GRCm38) |
Y94C |
probably damaging |
Het |
| Olfr585 |
A |
G |
7: 103,098,164 (GRCm38) |
Y141C |
probably damaging |
Het |
| Olfr697 |
A |
G |
7: 106,741,898 (GRCm38) |
F12S |
probably damaging |
Het |
| Parvb |
A |
T |
15: 84,282,835 (GRCm38) |
Y117F |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,043,027 (GRCm38) |
|
probably benign |
Het |
| Plxnb2 |
A |
T |
15: 89,162,810 (GRCm38) |
C769* |
probably null |
Het |
| Plxnc1 |
G |
T |
10: 94,943,667 (GRCm38) |
D304E |
probably benign |
Het |
| Prkg2 |
T |
C |
5: 99,024,451 (GRCm38) |
D135G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,317,543 (GRCm38) |
D635G |
probably benign |
Het |
| Rapgef6 |
T |
G |
11: 54,552,858 (GRCm38) |
V89G |
probably benign |
Het |
| Ror2 |
T |
A |
13: 53,117,330 (GRCm38) |
T330S |
probably benign |
Het |
| Ros1 |
A |
G |
10: 52,067,068 (GRCm38) |
V2050A |
possibly damaging |
Het |
| Serpinb6e |
T |
C |
13: 33,837,750 (GRCm38) |
|
probably benign |
Het |
| Skp2 |
C |
A |
15: 9,113,698 (GRCm38) |
G376C |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,686,062 (GRCm38) |
V1371A |
possibly damaging |
Het |
| Syvn1 |
G |
A |
19: 6,050,530 (GRCm38) |
R317H |
probably damaging |
Het |
| Tdo2 |
T |
A |
3: 81,969,505 (GRCm38) |
D139V |
probably damaging |
Het |
| Tmem130 |
A |
G |
5: 144,752,426 (GRCm38) |
V135A |
possibly damaging |
Het |
| Tpr |
A |
T |
1: 150,442,119 (GRCm38) |
Q2126L |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,830,314 (GRCm38) |
M324V |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,721,263 (GRCm38) |
M34T |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,439,455 (GRCm38) |
W154R |
possibly damaging |
Het |
|
| Other mutations in Cul5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01674:Cul5
|
APN |
9 |
53,635,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02043:Cul5
|
APN |
9 |
53,658,673 (GRCm38) |
missense |
probably benign |
0.26 |
|
IGL02145:Cul5
|
APN |
9 |
53,635,075 (GRCm38) |
splice site |
probably benign |
|
|
IGL02261:Cul5
|
APN |
9 |
53,635,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02281:Cul5
|
APN |
9 |
53,635,049 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02639:Cul5
|
APN |
9 |
53,655,342 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02697:Cul5
|
APN |
9 |
53,655,331 (GRCm38) |
missense |
probably benign |
|
|
IGL02752:Cul5
|
APN |
9 |
53,634,978 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03017:Cul5
|
APN |
9 |
53,644,485 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03031:Cul5
|
APN |
9 |
53,642,675 (GRCm38) |
splice site |
probably benign |
|
|
IGL03196:Cul5
|
APN |
9 |
53,625,880 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0142:Cul5
|
UTSW |
9 |
53,635,050 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0415:Cul5
|
UTSW |
9 |
53,667,070 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1619:Cul5
|
UTSW |
9 |
53,658,593 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1675:Cul5
|
UTSW |
9 |
53,646,683 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2059:Cul5
|
UTSW |
9 |
53,667,156 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3401:Cul5
|
UTSW |
9 |
53,621,212 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3427:Cul5
|
UTSW |
9 |
53,617,890 (GRCm38) |
missense |
probably benign |
|
|
R3701:Cul5
|
UTSW |
9 |
53,629,216 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3702:Cul5
|
UTSW |
9 |
53,629,216 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3815:Cul5
|
UTSW |
9 |
53,622,943 (GRCm38) |
missense |
probably benign |
0.31 |
|
R3848:Cul5
|
UTSW |
9 |
53,617,986 (GRCm38) |
missense |
probably benign |
0.34 |
|
R3849:Cul5
|
UTSW |
9 |
53,617,986 (GRCm38) |
missense |
probably benign |
0.34 |
|
R3850:Cul5
|
UTSW |
9 |
53,617,986 (GRCm38) |
missense |
probably benign |
0.34 |
|
R4592:Cul5
|
UTSW |
9 |
53,633,727 (GRCm38) |
splice site |
probably benign |
|
|
R4690:Cul5
|
UTSW |
9 |
53,622,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5154:Cul5
|
UTSW |
9 |
53,625,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5173:Cul5
|
UTSW |
9 |
53,642,734 (GRCm38) |
missense |
probably benign |
|
|
R5645:Cul5
|
UTSW |
9 |
53,622,943 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5868:Cul5
|
UTSW |
9 |
53,658,673 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5975:Cul5
|
UTSW |
9 |
53,622,793 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6251:Cul5
|
UTSW |
9 |
53,646,794 (GRCm38) |
missense |
probably benign |
0.40 |
|
R6284:Cul5
|
UTSW |
9 |
53,623,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6415:Cul5
|
UTSW |
9 |
53,646,683 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7178:Cul5
|
UTSW |
9 |
53,644,526 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7511:Cul5
|
UTSW |
9 |
53,625,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7923:Cul5
|
UTSW |
9 |
53,624,166 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7940:Cul5
|
UTSW |
9 |
53,623,769 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8481:Cul5
|
UTSW |
9 |
53,646,823 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9483:Cul5
|
UTSW |
9 |
53,621,174 (GRCm38) |
missense |
probably benign |
0.10 |
|
X0018:Cul5
|
UTSW |
9 |
53,622,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCAAGAGTCACAATGATGG -3'
(R):5'- AAGTGGCTACTACCTCTTCCCG -3'
Sequencing Primer
(F):5'- TGGTCCCTTGAAAGCATCG -3'
(R):5'- TCTTCCCGGTCTGGTCGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation