Incidental Mutation 'IGL01087:Cul1'
ID 51280
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 # IGL01087
Quality Score
Status
Chromosome 6
Chromosomal Location 47430516-47503078 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47485978 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9WTX6
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: 83,139,770 (GRCm39) probably null Het
Abca6 C A 11: 110,082,476 (GRCm39) A1166S probably benign Het
Arhgdib C A 6: 136,910,622 (GRCm39) K46N probably damaging Het
Ash1l T A 3: 88,971,209 (GRCm39) V2507D probably damaging Het
B4galnt1 A T 10: 127,002,060 (GRCm39) I63F probably damaging Het
Bclaf1 A G 10: 20,201,056 (GRCm39) D394G probably damaging Het
Btbd10 T C 7: 112,915,763 (GRCm39) D442G probably damaging Het
Cd44 A T 2: 102,652,607 (GRCm39) L492H probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Chsy1 T G 7: 65,821,874 (GRCm39) V703G possibly damaging Het
Clrn2 T C 5: 45,621,311 (GRCm39) probably benign Het
Crtc3 T C 7: 80,248,487 (GRCm39) probably benign Het
Dgki T C 6: 36,989,846 (GRCm39) D631G probably damaging Het
Eif3b T C 5: 140,426,862 (GRCm39) I706T probably damaging Het
Fam120a A G 13: 49,055,549 (GRCm39) L713P probably damaging Het
I830077J02Rik C A 3: 105,836,049 (GRCm39) probably null Het
Jmjd8 A C 17: 26,048,145 (GRCm39) probably benign Het
Kmt5a T C 5: 124,589,443 (GRCm39) probably benign Het
Krt87 C A 15: 101,329,706 (GRCm39) C486F probably benign Het
Lrp2 A T 2: 69,354,417 (GRCm39) N470K probably damaging Het
Med1 C A 11: 98,071,111 (GRCm39) D79Y probably damaging Het
Myo1d A G 11: 80,573,261 (GRCm39) S189P probably damaging Het
Myo9a T A 9: 59,697,361 (GRCm39) Y381N possibly damaging Het
Nipbl C A 15: 8,379,981 (GRCm39) S937I possibly damaging Het
Nlrp4g A G 9: 124,353,858 (GRCm38) noncoding transcript Het
Nutm2 A G 13: 50,623,665 (GRCm39) T121A probably damaging Het
Opa1 C T 16: 29,405,815 (GRCm39) P127S probably damaging Het
Or2h1b C T 17: 37,462,332 (GRCm39) C177Y probably damaging Het
Pcdh15 A T 10: 74,178,464 (GRCm39) I574F possibly damaging Het
Pcnx1 G A 12: 82,042,113 (GRCm39) probably benign Het
Prex2 A G 1: 11,138,328 (GRCm39) T136A probably benign Het
Prph2 A G 17: 47,222,085 (GRCm39) T155A probably damaging Het
Rsl1d1 T C 16: 11,012,539 (GRCm39) K296E possibly damaging Het
Syne1 A T 10: 5,375,708 (GRCm39) I128N probably damaging Het
Tlk1 A T 2: 70,582,660 (GRCm39) N156K possibly damaging Het
Trem2 C T 17: 48,658,956 (GRCm39) T222I probably damaging Het
Trip12 A T 1: 84,735,580 (GRCm39) F872L probably damaging Het
Trrap T A 5: 144,783,349 (GRCm39) S3393T probably damaging Het
Vwa8 T A 14: 79,172,669 (GRCm39) S304T probably benign Het
Zc3h7a T C 16: 10,971,046 (GRCm39) T328A probably benign Het
Other mutations in Cul1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02410:Cul1 APN 6 47,461,948 (GRCm39) missense probably damaging 1.00
IGL02458:Cul1 APN 6 47,502,542 (GRCm39) missense possibly damaging 0.91
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 2013-06-21