Incidental Mutation 'IGL02417:Cul3'
ID 292493
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 # IGL02417
Quality Score
Status
Chromosome 1
Chromosomal Location 80242640-80318197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80300619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 74 (Y74C)
Ref Sequence ENSEMBL: ENSMUSP00000130738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163119] [ENSMUST00000164108]
AlphaFold Q9JLV5
PDB Structure Solution structure of the cullin-3 homologue [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000163119
AA Change: Y74C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364
AA Change: Y74C

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 unknown
Transcript: ENSMUST00000167293
AA Change: Y63C
SMART Domains Protein: ENSMUSP00000126630
Gene: ENSMUSG00000004364
AA Change: Y63C

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T A 12: 52,565,136 (GRCm39) N702K probably damaging Het
Atm T C 9: 53,390,995 (GRCm39) T1860A probably benign Het
Bicdl1 A T 5: 115,811,217 (GRCm39) H231Q probably damaging Het
C2cd5 A C 6: 142,987,218 (GRCm39) D470E probably damaging Het
Chd5 T C 4: 152,451,751 (GRCm39) F688L probably damaging Het
Dhx16 A G 17: 36,203,429 (GRCm39) E1042G probably damaging Het
Dnah11 A G 12: 118,020,915 (GRCm39) L1966P probably damaging Het
Dpy19l1 A T 9: 24,386,682 (GRCm39) I204N possibly damaging Het
Drd2 T C 9: 49,313,559 (GRCm39) probably benign Het
Fasn A G 11: 120,711,166 (GRCm39) V228A probably damaging Het
Fggy T C 4: 95,737,846 (GRCm39) W148R probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gpr89 A T 3: 96,804,741 (GRCm39) Y38* probably null Het
H2-M1 G A 17: 36,983,026 (GRCm39) H22Y possibly damaging Het
Kdm3b T A 18: 34,941,630 (GRCm39) S574T probably benign Het
Kmt2c C T 5: 25,578,018 (GRCm39) V753I probably benign Het
Lcn9 T C 2: 25,713,692 (GRCm39) F73L possibly damaging Het
Lnpep T C 17: 17,765,165 (GRCm39) T762A possibly damaging Het
Lrp2 C T 2: 69,291,649 (GRCm39) C3510Y probably damaging Het
Nlrp3 T A 11: 59,456,849 (GRCm39) probably benign Het
Or14c39 A G 7: 86,344,027 (GRCm39) Y121C probably damaging Het
Or1j18 A T 2: 36,624,356 (GRCm39) I8F probably benign Het
Or5b3 A G 19: 13,388,259 (GRCm39) T109A possibly damaging Het
Pcnx3 A T 19: 5,736,509 (GRCm39) V176E possibly damaging Het
Phlpp1 T C 1: 106,320,444 (GRCm39) S1480P probably benign Het
Ppfia3 T C 7: 44,991,141 (GRCm39) R1027G probably damaging Het
Rnf216 A G 5: 143,054,665 (GRCm39) Y628H possibly damaging Het
Sh3bp1 G A 15: 78,785,699 (GRCm39) R4Q probably damaging Het
Skint9 A G 4: 112,271,335 (GRCm39) probably benign Het
Slc25a51 A G 4: 45,400,074 (GRCm39) S39P probably benign Het
Smarca4 C T 9: 21,612,386 (GRCm39) R1558C probably damaging Het
Spag9 A G 11: 94,007,567 (GRCm39) S1224G probably benign Het
Spdl1 G T 11: 34,704,181 (GRCm39) Q551K probably benign Het
Sugt1 A G 14: 79,847,698 (GRCm39) I183V probably benign Het
Th G A 7: 142,453,643 (GRCm39) S19L probably damaging Het
Tmprss11g A G 5: 86,638,750 (GRCm39) V246A probably benign Het
Tnfaip8l2 T C 3: 95,047,714 (GRCm39) T50A probably benign Het
Tox3 G T 8: 90,984,759 (GRCm39) T140K possibly damaging Het
Unc50 T A 1: 37,476,531 (GRCm39) Y205* probably null Het
Vmn2r83 A T 10: 79,314,881 (GRCm39) K376N 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
IGL02217:Cul3 APN 1 80,261,484 (GRCm39) missense probably damaging 0.97
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