Incidental Mutation 'IGL02043:Cul5'
ID 184841
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) question?
Stock # IGL02043
Quality Score
Status
Chromosome 9
Chromosomal Location 53525881-53578807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 53569973 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Cul5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Cul5 APN 9 53,546,307 (GRCm39) missense probably damaging 1.00
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
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 2014-05-07