Incidental Mutation 'IGL02117:Cul3'
ID 280449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cul3
Ensembl Gene ENSMUSG00000004364
Gene Name cullin 3
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02117
Quality Score
Status
Chromosome 1
Chromosomal Location 80242640-80318197 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 80300781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000163119] [ENSMUST00000164108]
AlphaFold Q9JLV5
Predicted Effect probably benign
Transcript: ENSMUST00000163119
SMART Domains Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364

DomainStartEndE-ValueType
PDB:4AP2|B 1 389 N/A PDB
SCOP:d1ldja2 30 382 1e-117 SMART
Blast:CULLIN 258 295 2e-15 BLAST
CULLIN 413 563 1.98e-90 SMART
Cullin_Nedd8 695 762 1.49e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164108
SMART Domains Protein: ENSMUSP00000131891
Gene: ENSMUSG00000004364

DomainStartEndE-ValueType
SCOP:d1ldja2 23 316 1e-101 SMART
PDB:4APF|B 23 323 N/A PDB
Blast:CULLIN 192 229 1e-15 BLAST
CULLIN 347 497 1.98e-90 SMART
Cullin_Nedd8 629 696 1.49e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167293
SMART Domains Protein: ENSMUSP00000126630
Gene: ENSMUSG00000004364

DomainStartEndE-ValueType
Pfam:Cullin 24 85 5.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170897
SMART Domains Protein: ENSMUSP00000130010
Gene: ENSMUSG00000004364

DomainStartEndE-ValueType
PDB:4AP2|B 2 45 1e-24 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192816
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for a targeted null mutation accumulate cyclin E, exhibit abnormal cycling in cells of extraembryonic ectoderm and trophectoderm, reduced size, abnormal gastrulation and trophoblast cells, absence of an amnion, and death by embryonic day 7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Cul3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00558:Cul3 APN 1 80,266,457 (GRCm39) splice site probably benign
IGL01454:Cul3 APN 1 80,281,900 (GRCm39) missense probably damaging 0.97
IGL01510:Cul3 APN 1 80,260,396 (GRCm39) missense probably damaging 1.00
IGL01701:Cul3 APN 1 80,255,140 (GRCm39) missense probably damaging 0.97
IGL02194:Cul3 APN 1 80,300,754 (GRCm39) missense probably benign 0.03
IGL02217:Cul3 APN 1 80,261,484 (GRCm39) missense probably damaging 0.97
IGL02417:Cul3 APN 1 80,300,619 (GRCm39) missense probably damaging 1.00
IGL02445:Cul3 APN 1 80,281,886 (GRCm39) missense possibly damaging 0.74
IGL02601:Cul3 APN 1 80,249,432 (GRCm39) intron probably benign
IGL03201:Cul3 APN 1 80,259,144 (GRCm39) missense probably damaging 1.00
R0467:Cul3 UTSW 1 80,258,580 (GRCm39) missense probably benign 0.01
R0662:Cul3 UTSW 1 80,249,282 (GRCm39) missense probably damaging 1.00
R0688:Cul3 UTSW 1 80,249,281 (GRCm39) missense possibly damaging 0.63
R0761:Cul3 UTSW 1 80,255,203 (GRCm39) unclassified probably benign
R0924:Cul3 UTSW 1 80,267,835 (GRCm39) missense probably damaging 0.99
R0930:Cul3 UTSW 1 80,267,835 (GRCm39) missense probably damaging 0.99
R0940:Cul3 UTSW 1 80,300,564 (GRCm39) intron probably benign
R1117:Cul3 UTSW 1 80,258,641 (GRCm39) missense probably damaging 1.00
R1572:Cul3 UTSW 1 80,260,506 (GRCm39) missense possibly damaging 0.91
R2384:Cul3 UTSW 1 80,261,406 (GRCm39) missense probably damaging 0.99
R3894:Cul3 UTSW 1 80,261,407 (GRCm39) missense probably damaging 0.97
R4676:Cul3 UTSW 1 80,249,391 (GRCm39) missense probably damaging 1.00
R4893:Cul3 UTSW 1 80,266,567 (GRCm39) missense probably damaging 0.98
R4908:Cul3 UTSW 1 80,258,632 (GRCm39) missense possibly damaging 0.91
R4910:Cul3 UTSW 1 80,267,806 (GRCm39) missense probably benign 0.09
R5173:Cul3 UTSW 1 80,259,133 (GRCm39) missense possibly damaging 0.94
R5787:Cul3 UTSW 1 80,260,438 (GRCm39) missense probably benign 0.13
R5887:Cul3 UTSW 1 80,254,139 (GRCm39) missense possibly damaging 0.94
R6057:Cul3 UTSW 1 80,249,249 (GRCm39) missense probably damaging 1.00
R6066:Cul3 UTSW 1 80,261,476 (GRCm39) missense probably benign 0.06
R6279:Cul3 UTSW 1 80,264,669 (GRCm39) missense probably damaging 0.98
R6300:Cul3 UTSW 1 80,264,669 (GRCm39) missense probably damaging 0.98
R6617:Cul3 UTSW 1 80,254,156 (GRCm39) missense probably damaging 1.00
R7059:Cul3 UTSW 1 80,254,141 (GRCm39) missense probably benign 0.00
R7223:Cul3 UTSW 1 80,264,717 (GRCm39) missense probably benign 0.14
R7774:Cul3 UTSW 1 80,247,011 (GRCm39) missense probably benign
R7958:Cul3 UTSW 1 80,249,274 (GRCm39) missense probably benign 0.11
R9494:Cul3 UTSW 1 80,255,169 (GRCm39) missense probably damaging 1.00
R9544:Cul3 UTSW 1 80,258,576 (GRCm39) missense probably damaging 0.97
Z1088:Cul3 UTSW 1 80,267,808 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16