Incidental Mutation 'IGL02043:Cul5'
ID184841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cul5
Ensembl Gene ENSMUSG00000032030
Gene Namecullin 5
SynonymsVACM-1, C030032G03Rik, C330021I08Rik, 8430423K24Rik, 4921514I20Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02043
Quality Score
Status
Chromosome9
Chromosomal Location53614582-53670014 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 53658673 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 86 (G86V)
Ref Sequence ENSEMBL: ENSMUSP00000034529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034529] [ENSMUST00000120122] [ENSMUST00000166367]
Predicted Effect probably benign
Transcript: ENSMUST00000034529
AA Change: G86V

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034529
Gene: ENSMUSG00000032030
AA Change: G86V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000133872
AA Change: G14V
SMART Domains Protein: ENSMUSP00000121734
Gene: ENSMUSG00000032030
AA Change: G14V

DomainStartEndE-ValueType
PDB:2WZK|A 5 49 4e-25 PDB
SCOP:d1ldja2 20 49 1e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137922
Predicted Effect probably benign
Transcript: ENSMUST00000166367
AA Change: G86V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000133144
Gene: ENSMUSG00000032030
AA Change: G86V

DomainStartEndE-ValueType
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 0.0701 question?
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik T G 4: 107,894,868 probably benign Het
Atp1b2 T C 11: 69,605,276 T33A probably benign Het
Brd2 A T 17: 34,112,616 probably benign Het
Carmil1 T C 13: 24,024,316 probably benign Het
Cdh9 A T 15: 16,856,232 D786V probably damaging Het
Cep128 A C 12: 91,266,730 probably benign Het
Cep85 T C 4: 134,155,727 T284A probably benign Het
Chrna1 C T 2: 73,568,106 E330K probably benign Het
Clec2l T C 6: 38,676,850 Y104H probably damaging Het
Clybl G T 14: 122,379,252 K226N probably damaging Het
Cmip T A 8: 117,445,328 D467E probably benign Het
Cpne3 A T 4: 19,543,340 probably null Het
Crisp4 A G 1: 18,134,100 V46A probably damaging Het
Csnk2a1 T C 2: 152,274,150 Y261H probably damaging Het
Depdc7 T C 2: 104,730,281 T123A probably benign Het
Edem2 T C 2: 155,705,741 T384A probably damaging Het
F8 C T X: 75,332,641 M377I probably benign Het
Fan1 T A 7: 64,371,619 probably null Het
Fez2 T C 17: 78,381,622 D366G probably damaging Het
Gm4841 A C 18: 60,270,965 S19A probably benign Het
Gm4862 T A 3: 139,128,635 noncoding transcript Het
Hk3 T A 13: 55,015,095 Q44L probably damaging Het
Irgm1 C A 11: 48,866,815 L56F probably damaging Het
Ldlr A G 9: 21,733,499 T108A probably benign Het
Lgr4 T A 2: 110,011,290 M516K probably damaging Het
Lrp1b T C 2: 40,697,525 N3906S probably null Het
Lrrtm4 A G 6: 80,021,862 N86D possibly damaging Het
Map3k2 A G 18: 32,207,534 D198G probably damaging Het
Mapkapk3 C T 9: 107,262,422 probably null Het
Mvp A T 7: 126,993,618 Y374N probably damaging Het
Myo3a T C 2: 22,399,965 S711P probably benign Het
Myom3 A G 4: 135,770,675 K189E probably damaging Het
Naip1 T A 13: 100,426,796 K620N probably benign Het
Nlrp10 T C 7: 108,925,502 E257G probably damaging Het
Nptn T G 9: 58,640,729 M139R possibly damaging Het
Nrk T G X: 138,988,795 M1105R possibly damaging Het
Olfr357 T A 2: 36,997,465 Y218* probably null Het
Olfr519 A T 7: 108,893,839 C189* probably null Het
Olfr963 T G 9: 39,669,078 V7G probably damaging Het
Pcdhb16 A G 18: 37,479,195 T403A probably benign Het
Pcyt1b A G X: 93,702,116 E50G possibly damaging Het
Pigg C T 5: 108,344,324 T892I probably damaging Het
Ppig T G 2: 69,735,983 probably null Het
Prr12 A G 7: 45,050,005 probably benign Het
Slc5a5 G T 8: 70,892,429 A78E possibly damaging Het
Slc7a2 T G 8: 40,911,058 M436R probably benign Het
Sp7 T A 15: 102,359,255 M39L probably benign Het
Spag8 T A 4: 43,653,134 probably benign Het
Svep1 A G 4: 58,068,556 S3077P probably benign Het
Tmem30a A T 9: 79,774,089 probably benign Het
Tmem63a C T 1: 180,972,788 T714I probably benign Het
Trank1 T C 9: 111,363,960 L535P probably damaging Het
Tuba8 A C 6: 121,220,511 N44T probably benign Het
Wnk1 A G 6: 119,949,078 probably benign Het
Zfp654 A T 16: 64,785,028 I396K probably benign Het
Other mutations in Cul5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Cul5 APN 9 53635007 missense probably damaging 1.00
IGL02145:Cul5 APN 9 53635075 splice site probably benign
IGL02261:Cul5 APN 9 53635037 missense probably damaging 1.00
IGL02281:Cul5 APN 9 53635049 missense possibly damaging 0.87
IGL02639:Cul5 APN 9 53655342 missense possibly damaging 0.89
IGL02697:Cul5 APN 9 53655331 missense probably benign
IGL02752:Cul5 APN 9 53634978 missense probably damaging 0.98
IGL03017:Cul5 APN 9 53644485 critical splice donor site probably null
IGL03031:Cul5 APN 9 53642675 splice site probably benign
IGL03196:Cul5 APN 9 53625880 missense probably damaging 0.99
R0142:Cul5 UTSW 9 53635050 missense probably damaging 0.98
R0415:Cul5 UTSW 9 53667070 missense probably benign 0.00
R1619:Cul5 UTSW 9 53658593 missense probably benign 0.00
R1675:Cul5 UTSW 9 53646683 missense probably benign 0.00
R2031:Cul5 UTSW 9 53667180 missense probably benign
R2059:Cul5 UTSW 9 53667156 missense probably damaging 0.98
R3401:Cul5 UTSW 9 53621212 missense probably benign 0.02
R3427:Cul5 UTSW 9 53617890 missense probably benign
R3701:Cul5 UTSW 9 53629216 missense probably damaging 0.99
R3702:Cul5 UTSW 9 53629216 missense probably damaging 0.99
R3815:Cul5 UTSW 9 53622943 missense probably benign 0.31
R3848:Cul5 UTSW 9 53617986 missense probably benign 0.34
R3849:Cul5 UTSW 9 53617986 missense probably benign 0.34
R3850:Cul5 UTSW 9 53617986 missense probably benign 0.34
R4592:Cul5 UTSW 9 53633727 splice site probably benign
R4690:Cul5 UTSW 9 53622871 missense probably damaging 1.00
R5154:Cul5 UTSW 9 53625867 missense probably damaging 1.00
R5173:Cul5 UTSW 9 53642734 missense probably benign
R5645:Cul5 UTSW 9 53622943 missense probably benign 0.17
R5868:Cul5 UTSW 9 53658673 missense probably benign 0.26
R5975:Cul5 UTSW 9 53622793 missense probably damaging 1.00
R6251:Cul5 UTSW 9 53646794 missense probably benign 0.40
R6284:Cul5 UTSW 9 53623735 missense probably damaging 1.00
R6415:Cul5 UTSW 9 53646683 missense probably benign 0.00
R7178:Cul5 UTSW 9 53644526 missense probably benign 0.01
R7511:Cul5 UTSW 9 53625969 missense probably damaging 1.00
X0018:Cul5 UTSW 9 53622929 missense probably damaging 1.00
Posted On2014-05-07