Incidental Mutation 'IGL02494:Cand1'
ID 295780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cand1
Ensembl Gene ENSMUSG00000020114
Gene Name cullin associated and neddylation disassociated 1
Synonyms 6330512O03Rik, 2310038O07Rik, D10Ertd516e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02494
Quality Score
Status
Chromosome 10
Chromosomal Location 119035160-119075960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119049522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 408 (V408A)
Ref Sequence ENSEMBL: ENSMUSP00000020315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020315] [ENSMUST00000126373]
AlphaFold Q6ZQ38
Predicted Effect probably benign
Transcript: ENSMUST00000020315
AA Change: V408A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020315
Gene: ENSMUSG00000020114
AA Change: V408A

DomainStartEndE-ValueType
SCOP:d1qgra_ 53 994 4e-44 SMART
Pfam:TIP120 1040 1203 1.9e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126373
SMART Domains Protein: ENSMUSP00000115234
Gene: ENSMUSG00000020114

DomainStartEndE-ValueType
Pfam:HEAT 56 86 2.1e-5 PFAM
low complexity region 124 135 N/A INTRINSIC
Pfam:HEAT_EZ 155 209 3.7e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149155
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 an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 (GRCm39) C178Y possibly damaging Het
Arg2 A G 12: 79,198,697 (GRCm39) R242G probably benign Het
Ash1l T A 3: 88,973,525 (GRCm39) L2528* probably null Het
Astn2 T A 4: 65,910,585 (GRCm39) M468L probably benign Het
Bglap2 A T 3: 88,285,243 (GRCm39) C74* probably null Het
Ccdc14 A G 16: 34,543,784 (GRCm39) Y714C probably damaging Het
Ccdc88c C T 12: 100,911,734 (GRCm39) G707D probably benign Het
Cdk13 G A 13: 17,913,710 (GRCm39) R890* probably null Het
Cep192 A G 18: 67,937,453 (GRCm39) E61G probably benign Het
Ctdspl T C 9: 118,866,484 (GRCm39) L181P probably damaging Het
Dock7 C T 4: 98,877,471 (GRCm39) V442M probably benign Het
Dop1a T C 9: 86,408,871 (GRCm39) V1860A probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fscn2 G A 11: 120,253,228 (GRCm39) V232M probably benign Het
Gemin5 A T 11: 58,012,583 (GRCm39) C1458S probably benign Het
Glrb A G 3: 80,752,539 (GRCm39) V408A probably benign Het
Gtse1 C T 15: 85,751,704 (GRCm39) P299L probably damaging Het
Hcfc1r1 T A 17: 23,893,559 (GRCm39) M46K probably damaging Het
Hdc A G 2: 126,436,041 (GRCm39) F610S probably benign Het
Hip1 A T 5: 135,473,645 (GRCm39) C224* probably null Het
Hsd17b10 G T X: 150,787,230 (GRCm39) A241S probably benign Het
Igsf10 G T 3: 59,235,427 (GRCm39) Q1585K probably damaging Het
Kat2b T C 17: 53,960,233 (GRCm39) Y514H probably damaging Het
Krt78 T C 15: 101,862,486 (GRCm39) I58M probably benign Het
Lcat C A 8: 106,668,571 (GRCm39) probably benign Het
Naca G A 10: 127,877,179 (GRCm39) probably benign Het
Nbea T C 3: 55,712,772 (GRCm39) K2102E probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or1e35 A C 11: 73,797,550 (GRCm39) I256S possibly damaging Het
Or4b1b G A 2: 90,112,295 (GRCm39) S208F probably benign Het
Or4n4 A T 14: 50,519,683 (GRCm39) V9D probably damaging Het
Or7c19 C A 8: 85,957,312 (GRCm39) L63I possibly damaging Het
Patj T A 4: 98,592,224 (GRCm39) probably benign Het
Pcdhb17 G A 18: 37,618,347 (GRCm39) A46T possibly damaging Het
Phf8 T C X: 150,408,227 (GRCm39) V859A probably benign Het
Plec T A 15: 76,060,979 (GRCm39) E3054V probably damaging Het
Prr12 C A 7: 44,678,270 (GRCm39) K1958N unknown Het
Psmf1 A G 2: 151,582,929 (GRCm39) probably null Het
Rsu1 T C 2: 13,222,002 (GRCm39) probably null Het
Samm50 T C 15: 84,080,015 (GRCm39) V31A probably benign Het
St14 A G 9: 31,019,941 (GRCm39) V56A possibly damaging Het
Trpc1 T C 9: 95,590,360 (GRCm39) N699S probably damaging Het
Ttn A T 2: 76,574,144 (GRCm39) M25583K probably damaging Het
Utrn A G 10: 12,585,798 (GRCm39) V993A probably benign Het
Other mutations in Cand1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Cand1 APN 10 119,047,040 (GRCm39) missense probably benign 0.00
IGL00917:Cand1 APN 10 119,046,841 (GRCm39) missense possibly damaging 0.87
IGL01383:Cand1 APN 10 119,044,072 (GRCm39) missense probably damaging 0.96
IGL02016:Cand1 APN 10 119,048,473 (GRCm39) missense probably damaging 0.98
IGL02271:Cand1 APN 10 119,047,626 (GRCm39) missense probably damaging 1.00
IGL02282:Cand1 APN 10 119,046,614 (GRCm39) missense probably benign 0.26
IGL02527:Cand1 APN 10 119,042,712 (GRCm39) missense probably damaging 1.00
IGL02675:Cand1 APN 10 119,055,602 (GRCm39) missense probably damaging 0.99
IGL02796:Cand1 UTSW 10 119,049,543 (GRCm39) missense probably damaging 1.00
R0114:Cand1 UTSW 10 119,052,427 (GRCm39) missense probably benign
R0667:Cand1 UTSW 10 119,052,425 (GRCm39) missense probably benign 0.00
R1589:Cand1 UTSW 10 119,049,471 (GRCm39) missense probably damaging 0.97
R1591:Cand1 UTSW 10 119,047,774 (GRCm39) missense possibly damaging 0.63
R1626:Cand1 UTSW 10 119,045,919 (GRCm39) missense possibly damaging 0.46
R1771:Cand1 UTSW 10 119,044,211 (GRCm39) missense probably benign 0.05
R1937:Cand1 UTSW 10 119,038,925 (GRCm39) missense probably damaging 1.00
R1951:Cand1 UTSW 10 119,043,925 (GRCm39) splice site probably benign
R1990:Cand1 UTSW 10 119,045,972 (GRCm39) missense probably damaging 1.00
R3522:Cand1 UTSW 10 119,075,102 (GRCm39) missense probably benign 0.01
R4207:Cand1 UTSW 10 119,047,750 (GRCm39) missense probably damaging 1.00
R4209:Cand1 UTSW 10 119,047,463 (GRCm39) missense probably benign 0.24
R4502:Cand1 UTSW 10 119,052,572 (GRCm39) missense probably benign
R4791:Cand1 UTSW 10 119,046,607 (GRCm39) missense probably benign 0.02
R4841:Cand1 UTSW 10 119,049,451 (GRCm39) critical splice donor site probably null
R4842:Cand1 UTSW 10 119,049,451 (GRCm39) critical splice donor site probably null
R5326:Cand1 UTSW 10 119,047,933 (GRCm39) missense probably benign
R5606:Cand1 UTSW 10 119,047,359 (GRCm39) missense possibly damaging 0.63
R5613:Cand1 UTSW 10 119,051,228 (GRCm39) missense possibly damaging 0.93
R5768:Cand1 UTSW 10 119,046,910 (GRCm39) missense probably benign 0.06
R5884:Cand1 UTSW 10 119,049,670 (GRCm39) missense possibly damaging 0.90
R6006:Cand1 UTSW 10 119,045,933 (GRCm39) missense possibly damaging 0.83
R6062:Cand1 UTSW 10 119,053,915 (GRCm39) missense possibly damaging 0.89
R6734:Cand1 UTSW 10 119,047,897 (GRCm39) missense possibly damaging 0.67
R6838:Cand1 UTSW 10 119,045,935 (GRCm39) missense probably benign 0.21
R7058:Cand1 UTSW 10 119,047,659 (GRCm39) missense probably benign 0.00
R7342:Cand1 UTSW 10 119,047,692 (GRCm39) missense possibly damaging 0.64
R7425:Cand1 UTSW 10 119,052,148 (GRCm39) missense probably benign 0.00
R7705:Cand1 UTSW 10 119,048,343 (GRCm39) critical splice donor site probably null
R7812:Cand1 UTSW 10 119,053,864 (GRCm39) missense probably benign 0.04
R7916:Cand1 UTSW 10 119,052,493 (GRCm39) missense probably benign 0.00
R7982:Cand1 UTSW 10 119,052,378 (GRCm39) missense probably damaging 0.97
R8117:Cand1 UTSW 10 119,042,721 (GRCm39) missense probably damaging 1.00
R9388:Cand1 UTSW 10 119,047,213 (GRCm39) missense possibly damaging 0.62
Z1176:Cand1 UTSW 10 119,075,099 (GRCm39) missense probably benign
Posted On 2015-04-16