Incidental Mutation 'IGL02217:Cul3'
ID 284949
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 # IGL02217
Quality Score
Status
Chromosome 1
Chromosomal Location 80242640-80318197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80261484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 247 (M247K)
Ref Sequence ENSEMBL: ENSMUSP00000131891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163119] [ENSMUST00000164108]
AlphaFold Q9JLV5
Predicted Effect possibly damaging
Transcript: ENSMUST00000163119
AA Change: M313K

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364
AA Change: M313K

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 damaging
Transcript: ENSMUST00000164108
AA Change: M247K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131891
Gene: ENSMUSG00000004364
AA Change: M247K

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: ENSMUST00000170897
SMART Domains Protein: ENSMUSP00000130010
Gene: ENSMUSG00000004364

DomainStartEndE-ValueType
PDB:4AP2|B 2 45 1e-24 PDB
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,603,955 (GRCm39) probably benign Het
Actn1 G A 12: 80,220,868 (GRCm39) Q647* probably null Het
Adamts6 T A 13: 104,598,873 (GRCm39) probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabin1 G A 10: 75,535,881 (GRCm39) T1389I possibly damaging Het
Cenpc1 A G 5: 86,177,059 (GRCm39) probably benign Het
Clca4a T A 3: 144,667,757 (GRCm39) T405S possibly damaging Het
Cntln G A 4: 85,018,495 (GRCm39) V1168M probably damaging Het
Col18a1 A G 10: 76,889,132 (GRCm39) S1494P probably damaging Het
Cps1 A T 1: 67,213,541 (GRCm39) T758S probably benign Het
Cyp3a57 A G 5: 145,305,953 (GRCm39) probably null Het
Dennd4c T A 4: 86,732,036 (GRCm39) C917S probably benign Het
Dhrs11 A T 11: 84,713,221 (GRCm39) Y166* probably null Het
Dtl A G 1: 191,300,426 (GRCm39) V146A probably damaging Het
Exosc9 A G 3: 36,606,893 (GRCm39) E20G probably damaging Het
Fer A G 17: 64,445,960 (GRCm39) K437R probably benign Het
Fkbp6 A T 5: 135,366,484 (GRCm39) V284E probably benign Het
Foxq1 A T 13: 31,743,152 (GRCm39) S85C probably damaging Het
Galnt12 T A 4: 47,113,832 (GRCm39) S83R probably damaging Het
Gpr156 A G 16: 37,825,673 (GRCm39) D630G probably benign Het
Hace1 A T 10: 45,466,471 (GRCm39) probably null Het
Hemgn G T 4: 46,396,420 (GRCm39) T272K probably damaging Het
Ifi213 T G 1: 173,422,598 (GRCm39) E89A possibly damaging Het
Jarid2 A G 13: 45,066,677 (GRCm39) E954G probably damaging Het
Kcnu1 A G 8: 26,348,212 (GRCm39) D126G probably damaging Het
Lbh A T 17: 73,228,247 (GRCm39) I31F possibly damaging Het
Lrrc37 T C 11: 103,503,697 (GRCm39) probably benign Het
Mdfic2 T A 6: 98,225,033 (GRCm39) E83D possibly damaging Het
Muc6 T C 7: 141,235,889 (GRCm39) E490G probably damaging Het
Ncoa3 T C 2: 165,897,266 (GRCm39) S686P probably damaging Het
Nme4 A G 17: 26,312,834 (GRCm39) M108T probably damaging Het
Nod1 A C 6: 54,920,404 (GRCm39) V638G possibly damaging Het
Nrip2 A G 6: 128,383,502 (GRCm39) N70S probably damaging Het
Or2bd2 T A 7: 6,443,244 (GRCm39) I115N probably damaging Het
Or5as1 A G 2: 86,980,231 (GRCm39) M258T probably benign Het
Pitrm1 G A 13: 6,617,377 (GRCm39) probably benign Het
Proser1 A G 3: 53,378,912 (GRCm39) K115E probably damaging Het
Ptov1 C T 7: 44,516,900 (GRCm39) G70R probably damaging Het
Qtrt1 T G 9: 21,328,685 (GRCm39) probably null Het
Rbbp8nl A G 2: 179,919,981 (GRCm39) probably benign Het
Rplp1rt A T 19: 12,824,227 (GRCm39) noncoding transcript Het
Rtn3 G A 19: 7,412,449 (GRCm39) T794I probably damaging Het
Setd4 A G 16: 93,390,183 (GRCm39) L82P probably damaging Het
Shank2 C T 7: 143,838,784 (GRCm39) L27F possibly damaging Het
Srpk2 A C 5: 23,750,568 (GRCm39) V45G probably damaging Het
Utrn A G 10: 12,627,303 (GRCm39) F57S probably damaging Het
Vcan T G 13: 89,851,196 (GRCm39) T1255P probably damaging Het
Vmn2r16 A C 5: 109,487,676 (GRCm39) H183P probably damaging Het
Wdr48 T C 9: 119,738,601 (GRCm39) I286T 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
IGL02117:Cul3 APN 1 80,300,781 (GRCm39) splice site probably benign
IGL02194:Cul3 APN 1 80,300,754 (GRCm39) missense probably benign 0.03
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