Incidental Mutation 'IGL01087:Cul1'
ID51280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cul1
Ensembl Gene ENSMUSG00000029686
Gene Namecullin 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01087
Quality Score
Status
Chromosome6
Chromosomal Location47453398-47526139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 47509044 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 342 (T342A)
Ref Sequence ENSEMBL: ENSMUSP00000122702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031697] [ENSMUST00000146200]
Predicted Effect probably benign
Transcript: ENSMUST00000031697
AA Change: T342A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: T342A

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: ENSMUST00000146200
AA Change: T342A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: T342A

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,162,788 probably null Het
Abca6 C A 11: 110,191,650 A1166S probably benign Het
Arhgdib C A 6: 136,933,624 K46N probably damaging Het
Ash1l T A 3: 89,063,902 V2507D probably damaging Het
B4galnt1 A T 10: 127,166,191 I63F probably damaging Het
Bclaf1 A G 10: 20,325,310 D394G probably damaging Het
Btbd10 T C 7: 113,316,556 D442G probably damaging Het
Cd44 A T 2: 102,822,262 L492H probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Chsy1 T G 7: 66,172,126 V703G possibly damaging Het
Clrn2 T C 5: 45,463,969 probably benign Het
Crtc3 T C 7: 80,598,739 probably benign Het
Dgki T C 6: 37,012,911 D631G probably damaging Het
Eif3b T C 5: 140,441,107 I706T probably damaging Het
Fam120a A G 13: 48,902,073 L713P probably damaging Het
I830077J02Rik C A 3: 105,928,733 probably null Het
Jmjd8 A C 17: 25,829,171 probably benign Het
Kmt5a T C 5: 124,451,380 probably benign Het
Krt87 C A 15: 101,431,825 C486F probably benign Het
Lrp2 A T 2: 69,524,073 N470K probably damaging Het
Med1 C A 11: 98,180,285 D79Y probably damaging Het
Myo1d A G 11: 80,682,435 S189P probably damaging Het
Myo9a T A 9: 59,790,078 Y381N possibly damaging Het
Nipbl C A 15: 8,350,497 S937I possibly damaging Het
Nlrp4g A G 9: 124,353,858 noncoding transcript Het
Nutm2 A G 13: 50,469,629 T121A probably damaging Het
Olfr93 C T 17: 37,151,441 C177Y probably damaging Het
Opa1 C T 16: 29,586,997 P127S probably damaging Het
Pcdh15 A T 10: 74,342,632 I574F possibly damaging Het
Pcnx G A 12: 81,995,339 probably benign Het
Prex2 A G 1: 11,068,104 T136A probably benign Het
Prph2 A G 17: 46,911,159 T155A probably damaging Het
Rsl1d1 T C 16: 11,194,675 K296E possibly damaging Het
Syne1 A T 10: 5,425,708 I128N probably damaging Het
Tlk1 A T 2: 70,752,316 N156K possibly damaging Het
Trem2 C T 17: 48,351,928 T222I probably damaging Het
Trip12 A T 1: 84,757,859 F872L probably damaging Het
Trrap T A 5: 144,846,539 S3393T probably damaging Het
Vwa8 T A 14: 78,935,229 S304T probably benign Het
Zc3h7a T C 16: 11,153,182 T328A probably benign Het
Other mutations in Cul1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02410:Cul1 APN 6 47485014 missense probably damaging 1.00
IGL02458:Cul1 APN 6 47525608 missense possibly damaging 0.91
IGL02490:Cul1 APN 6 47514886 missense probably damaging 0.98
IGL03065:Cul1 APN 6 47495081 missense probably damaging 1.00
IGL03387:Cul1 APN 6 47501209 missense probably damaging 0.96
IGL02837:Cul1 UTSW 6 47523205 missense probably benign 0.01
R0064:Cul1 UTSW 6 47502415 splice site probably benign
R0064:Cul1 UTSW 6 47502415 splice site probably benign
R0436:Cul1 UTSW 6 47523773 missense probably benign 0.16
R0746:Cul1 UTSW 6 47518288 splice site probably null
R1103:Cul1 UTSW 6 47517177 missense probably benign 0.03
R1471:Cul1 UTSW 6 47514886 missense probably damaging 0.98
R1746:Cul1 UTSW 6 47508245 missense probably damaging 0.98
R1852:Cul1 UTSW 6 47520830 missense probably damaging 0.99
R1858:Cul1 UTSW 6 47525524 intron probably null
R1937:Cul1 UTSW 6 47508355 missense probably benign 0.19
R1964:Cul1 UTSW 6 47502571 missense probably damaging 0.98
R2985:Cul1 UTSW 6 47502507 missense probably damaging 1.00
R4452:Cul1 UTSW 6 47508989 nonsense probably null
R4653:Cul1 UTSW 6 47484963 missense probably damaging 1.00
R4860:Cul1 UTSW 6 47517146 missense probably benign 0.38
R4860:Cul1 UTSW 6 47517191 missense probably damaging 0.99
R4860:Cul1 UTSW 6 47517146 missense probably benign 0.38
R4860:Cul1 UTSW 6 47517191 missense probably damaging 0.99
R5141:Cul1 UTSW 6 47520839 missense probably benign 0.04
R5328:Cul1 UTSW 6 47508317 missense probably damaging 0.99
R5399:Cul1 UTSW 6 47485084 unclassified probably null
R5593:Cul1 UTSW 6 47485086 nonsense probably null
R5593:Cul1 UTSW 6 47514991 missense probably damaging 0.99
R5616:Cul1 UTSW 6 47523788 missense probably damaging 1.00
R5855:Cul1 UTSW 6 47523213 missense probably benign 0.00
R6382:Cul1 UTSW 6 47502439 missense probably damaging 1.00
R6670:Cul1 UTSW 6 47517134 missense probably damaging 1.00
R6964:Cul1 UTSW 6 47516509 missense probably benign 0.01
Posted On2013-06-21