Incidental Mutation 'IGL02458:Cul1'
ID 294512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cul1
Ensembl Gene ENSMUSG00000029686
Gene Name cullin 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02458
Quality Score
Status
Chromosome 6
Chromosomal Location 47430516-47503078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47502542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 769 (K769E)
Ref Sequence ENSEMBL: ENSMUSP00000031697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031697] [ENSMUST00000081721] [ENSMUST00000092648] [ENSMUST00000114616] [ENSMUST00000114618] [ENSMUST00000146200]
AlphaFold Q9WTX6
Predicted Effect possibly damaging
Transcript: ENSMUST00000031697
AA Change: K769E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: K769E

DomainStartEndE-ValueType
SCOP:d1ldja2 17 410 1e-174 SMART
CULLIN 447 594 3.69e-81 SMART
low complexity region 638 651 N/A INTRINSIC
Cullin_Nedd8 703 770 6.19e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081721
SMART Domains Protein: ENSMUSP00000080419
Gene: ENSMUSG00000029687

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 39 68 6.1e-18 PFAM
SANT 159 250 9.7e-3 SMART
low complexity region 349 366 N/A INTRINSIC
low complexity region 385 409 N/A INTRINSIC
SANT 428 476 6.62e-1 SMART
CXC 555 592 1.05e-1 SMART
SET 612 733 4.15e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092648
SMART Domains Protein: ENSMUSP00000090318
Gene: ENSMUSG00000029687

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 39 68 6.9e-20 PFAM
SANT 159 250 9.7e-3 SMART
Blast:SET 272 333 3e-13 BLAST
low complexity region 349 366 N/A INTRINSIC
low complexity region 385 409 N/A INTRINSIC
SANT 428 476 6.62e-1 SMART
CXC 513 550 1.05e-1 SMART
SET 570 691 4.15e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114616
SMART Domains Protein: ENSMUSP00000110263
Gene: ENSMUSG00000029687

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 39 68 2.5e-20 PFAM
SANT 120 211 9.7e-3 SMART
low complexity region 310 327 N/A INTRINSIC
low complexity region 346 370 N/A INTRINSIC
SANT 389 437 6.62e-1 SMART
CXC 516 553 1.05e-1 SMART
SET 573 694 4.15e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114618
SMART Domains Protein: ENSMUSP00000110265
Gene: ENSMUSG00000029687

DomainStartEndE-ValueType
Pfam:EZH2_WD-Binding 39 68 7.4e-20 PFAM
SANT 150 241 9.7e-3 SMART
low complexity region 345 362 N/A INTRINSIC
low complexity region 381 405 N/A INTRINSIC
SANT 424 472 6.62e-1 SMART
CXC 551 588 1.05e-1 SMART
SET 608 729 4.15e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154201
Predicted Effect probably benign
Transcript: ENSMUST00000204243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149531
Predicted Effect probably benign
Transcript: ENSMUST00000146200
SMART Domains Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686

DomainStartEndE-ValueType
SCOP:d1ldja2 17 410 1e-176 SMART
CULLIN 447 594 3.69e-81 SMART
low complexity region 638 651 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations accumulate cyclin E1 and exhibit arrested development and lethality around embryonic day 6.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,206,844 (GRCm39) I37L probably benign Het
Alpk1 A G 3: 127,474,968 (GRCm39) probably null Het
Ankrd33 T C 15: 101,014,488 (GRCm39) F8L probably damaging Het
Avil A G 10: 126,852,222 (GRCm39) K669R probably benign Het
Bcor G T X: 11,914,749 (GRCm39) L1165I probably damaging Het
C7 A G 15: 5,088,871 (GRCm39) probably benign Het
Cc2d2a A G 5: 43,875,896 (GRCm39) I958V probably benign Het
Cenpe A T 3: 134,935,869 (GRCm39) K435* probably null Het
Chrna7 G A 7: 62,755,842 (GRCm39) L235F probably damaging Het
Col6a3 C A 1: 90,706,919 (GRCm39) V2065L unknown Het
Copb1 A T 7: 113,846,020 (GRCm39) N183K probably benign Het
Cpn2 G A 16: 30,079,653 (GRCm39) A16V probably benign Het
Deup1 C T 9: 15,503,656 (GRCm39) V302M probably benign Het
Dnah17 T C 11: 117,927,176 (GRCm39) K3871E probably damaging Het
Dnah6 A G 6: 73,004,431 (GRCm39) V3844A probably benign Het
Dnah7a A T 1: 53,657,487 (GRCm39) L763* probably null Het
Donson A T 16: 91,478,064 (GRCm39) W461R probably damaging Het
Dpp10 T C 1: 123,269,418 (GRCm39) I664V probably benign Het
Dusp8 T A 7: 141,636,484 (GRCm39) T369S probably benign Het
Dync2h1 A T 9: 7,117,422 (GRCm39) L56Q probably damaging Het
Ecd A T 14: 20,374,545 (GRCm39) S532T probably benign Het
Frg2f1 G A 4: 119,388,154 (GRCm39) T115I probably damaging Het
Gpatch2l A G 12: 86,335,735 (GRCm39) probably benign Het
Gtf3c2 T A 5: 31,316,867 (GRCm39) probably null Het
Haghl T C 17: 26,002,470 (GRCm39) probably benign Het
Hoxc8 A T 15: 102,901,181 (GRCm39) N208I probably damaging Het
Igf2 T C 7: 142,207,785 (GRCm39) D115G probably benign Het
Jag2 T A 12: 112,879,613 (GRCm39) D385V probably damaging Het
Laptm4b A G 15: 34,258,888 (GRCm39) H54R probably benign Het
Lrp2 A G 2: 69,352,117 (GRCm39) S640P probably damaging Het
Map3k8 A C 18: 4,334,660 (GRCm39) V328G probably damaging Het
Mfsd13a A G 19: 46,360,686 (GRCm39) E388G probably damaging Het
Ms4a13 G A 19: 11,149,292 (GRCm39) T168I probably benign Het
Mtg1 C A 7: 139,730,085 (GRCm39) Q294K probably benign Het
Myh3 C T 11: 66,987,766 (GRCm39) A1413V possibly damaging Het
Neo1 A T 9: 58,801,150 (GRCm39) probably benign Het
Ogfod3 T C 11: 121,091,749 (GRCm39) E119G probably benign Het
Or10ak9 A G 4: 118,726,497 (GRCm39) N173S possibly damaging Het
Or2t49 A T 11: 58,393,073 (GRCm39) M109K probably benign Het
Or4a77 A G 2: 89,487,692 (GRCm39) L31P probably damaging Het
Or5ak20 G A 2: 85,184,006 (GRCm39) T88I probably benign Het
Or6c210 A T 10: 129,496,475 (GRCm39) I267F probably benign Het
Parvb G T 15: 84,187,635 (GRCm39) D248Y probably damaging Het
Pcdh11x A T X: 119,310,315 (GRCm39) H586L possibly damaging Het
Phactr2 T C 10: 13,137,572 (GRCm39) E120G probably damaging Het
Ppfibp2 A T 7: 107,342,171 (GRCm39) Q775L probably damaging Het
Rcbtb1 A G 14: 59,467,443 (GRCm39) Y427C probably damaging Het
Rftn2 A T 1: 55,250,351 (GRCm39) C131* probably null Het
Rigi A G 4: 40,229,536 (GRCm39) S83P probably damaging Het
Rps6ka2 A G 17: 7,556,402 (GRCm39) D474G probably benign Het
Rsbn1l T C 5: 21,156,734 (GRCm39) E17G probably damaging Het
Ryr2 T C 13: 11,720,585 (GRCm39) M2688V probably benign Het
Slc22a18 C A 7: 143,046,574 (GRCm39) probably benign Het
Smarcc1 A G 9: 109,961,194 (GRCm39) probably benign Het
Soat2 T C 15: 102,070,550 (GRCm39) V451A probably damaging Het
Sptlc2 A T 12: 87,356,667 (GRCm39) probably benign Het
Tada1 C T 1: 166,220,203 (GRCm39) L308F probably damaging Het
Tango2 A T 16: 18,128,731 (GRCm39) probably null Het
Tbc1d15 A T 10: 115,065,111 (GRCm39) V158D probably damaging Het
Tmx2 A T 2: 84,503,588 (GRCm39) probably benign Het
Tpte T A 8: 22,795,874 (GRCm39) I79K probably benign Het
Trav6-1 A G 14: 52,876,199 (GRCm39) I40V probably benign Het
Trgv3 A G 13: 19,427,423 (GRCm39) Y102C probably damaging Het
Ubash3a T C 17: 31,450,455 (GRCm39) S377P possibly damaging Het
Vmn2r7 T C 3: 64,600,446 (GRCm39) D575G probably damaging Het
Vps41 A G 13: 19,037,649 (GRCm39) D704G possibly damaging Het
Vwa5a T C 9: 38,638,259 (GRCm39) S261P possibly damaging Het
Zc3hav1 A G 6: 38,317,264 (GRCm39) V112A probably damaging Het
Other mutations in Cul1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Cul1 APN 6 47,485,978 (GRCm39) missense probably benign
IGL02410:Cul1 APN 6 47,461,948 (GRCm39) missense probably damaging 1.00
IGL02490:Cul1 APN 6 47,491,820 (GRCm39) missense probably damaging 0.98
IGL03065:Cul1 APN 6 47,472,015 (GRCm39) missense probably damaging 1.00
IGL03387:Cul1 APN 6 47,478,143 (GRCm39) missense probably damaging 0.96
IGL02837:Cul1 UTSW 6 47,500,139 (GRCm39) missense probably benign 0.01
R0064:Cul1 UTSW 6 47,479,349 (GRCm39) splice site probably benign
R0064:Cul1 UTSW 6 47,479,349 (GRCm39) splice site probably benign
R0436:Cul1 UTSW 6 47,500,707 (GRCm39) missense probably benign 0.16
R0746:Cul1 UTSW 6 47,495,222 (GRCm39) splice site probably null
R1103:Cul1 UTSW 6 47,494,111 (GRCm39) missense probably benign 0.03
R1471:Cul1 UTSW 6 47,491,820 (GRCm39) missense probably damaging 0.98
R1746:Cul1 UTSW 6 47,485,179 (GRCm39) missense probably damaging 0.98
R1852:Cul1 UTSW 6 47,497,764 (GRCm39) missense probably damaging 0.99
R1858:Cul1 UTSW 6 47,502,458 (GRCm39) splice site probably null
R1937:Cul1 UTSW 6 47,485,289 (GRCm39) missense probably benign 0.19
R1964:Cul1 UTSW 6 47,479,505 (GRCm39) missense probably damaging 0.98
R2985:Cul1 UTSW 6 47,479,441 (GRCm39) missense probably damaging 1.00
R4452:Cul1 UTSW 6 47,485,923 (GRCm39) nonsense probably null
R4653:Cul1 UTSW 6 47,461,897 (GRCm39) missense probably damaging 1.00
R4860:Cul1 UTSW 6 47,494,080 (GRCm39) missense probably benign 0.38
R4860:Cul1 UTSW 6 47,494,080 (GRCm39) missense probably benign 0.38
R4860:Cul1 UTSW 6 47,494,125 (GRCm39) missense probably damaging 0.99
R4860:Cul1 UTSW 6 47,494,125 (GRCm39) missense probably damaging 0.99
R5141:Cul1 UTSW 6 47,497,773 (GRCm39) missense probably benign 0.04
R5328:Cul1 UTSW 6 47,485,251 (GRCm39) missense probably damaging 0.99
R5399:Cul1 UTSW 6 47,462,018 (GRCm39) splice site probably null
R5593:Cul1 UTSW 6 47,491,925 (GRCm39) missense probably damaging 0.99
R5593:Cul1 UTSW 6 47,462,020 (GRCm39) nonsense probably null
R5616:Cul1 UTSW 6 47,500,722 (GRCm39) missense probably damaging 1.00
R5855:Cul1 UTSW 6 47,500,147 (GRCm39) missense probably benign 0.00
R6382:Cul1 UTSW 6 47,479,373 (GRCm39) missense probably damaging 1.00
R6670:Cul1 UTSW 6 47,494,068 (GRCm39) missense probably damaging 1.00
R6964:Cul1 UTSW 6 47,493,443 (GRCm39) missense probably benign 0.01
R8146:Cul1 UTSW 6 47,472,027 (GRCm39) missense possibly damaging 0.50
R8373:Cul1 UTSW 6 47,491,997 (GRCm39) missense possibly damaging 0.78
R8842:Cul1 UTSW 6 47,492,010 (GRCm39) missense probably damaging 1.00
R8899:Cul1 UTSW 6 47,474,246 (GRCm39) missense possibly damaging 0.84
R9093:Cul1 UTSW 6 47,495,173 (GRCm39) missense probably damaging 1.00
R9352:Cul1 UTSW 6 47,479,426 (GRCm39) missense probably benign 0.00
RF001:Cul1 UTSW 6 47,501,515 (GRCm39) missense possibly damaging 0.50
RF055:Cul1 UTSW 6 47,494,067 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16