Incidental Mutation 'IGL02527:Cand1'
ID297160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cand1
Ensembl Gene ENSMUSG00000020114
Gene Namecullin associated and neddylation disassociated 1
SynonymsD10Ertd516e, 2310038O07Rik, 6330512O03Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02527
Quality Score
Status
Chromosome10
Chromosomal Location119199255-119240055 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 119206807 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1126 (M1126K)
Ref Sequence ENSEMBL: ENSMUSP00000020315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020315]
Predicted Effect probably damaging
Transcript: ENSMUST00000020315
AA Change: M1126K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020315
Gene: ENSMUSG00000020114
AA Change: M1126K

DomainStartEndE-ValueType
SCOP:d1qgra_ 53 994 4e-44 SMART
Pfam:TIP120 1040 1203 1.9e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148802
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,661,433 V868A probably damaging Het
Adam25 T A 8: 40,753,748 I17K possibly damaging Het
Arap2 A T 5: 62,749,307 M123K probably benign Het
Asic3 A G 5: 24,416,277 M332V probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC017158 T A 7: 128,276,231 T317S possibly damaging Het
Capn3 A G 2: 120,504,485 T818A probably damaging Het
Cda G A 4: 138,343,521 Q104* probably null Het
Cpeb1 T C 7: 81,359,887 D234G probably damaging Het
Cpq A G 15: 33,302,363 Y220C probably damaging Het
Diaph3 T C 14: 86,810,359 K1026R possibly damaging Het
Dpep1 T C 8: 123,198,748 F47L probably damaging Het
Dppa4 G T 16: 48,289,093 R66L possibly damaging Het
Elac1 C A 18: 73,747,233 E31* probably null Het
Fggy A G 4: 95,697,069 K62E probably damaging Het
Ficd T A 5: 113,736,966 M32K probably benign Het
Foxd4 A G 19: 24,899,814 S341P probably benign Het
Gm4788 T C 1: 139,753,045 N245S probably damaging Het
Gnb4 G T 3: 32,589,866 T181K probably benign Het
Grin2b T A 6: 135,923,391 Y164F probably damaging Het
Hmmr A G 11: 40,708,105 L564P probably damaging Het
Hsd17b4 G A 18: 50,160,164 V257I probably benign Het
Itga10 C A 3: 96,655,624 probably benign Het
Kcnk18 T C 19: 59,235,275 V284A probably damaging Het
Klf11 T A 12: 24,655,323 S259T probably benign Het
Kmt2d C T 15: 98,841,747 probably benign Het
Manea A G 4: 26,336,619 probably null Het
Mybl1 T C 1: 9,690,148 H75R probably damaging Het
Neb G A 2: 52,263,947 T2384M probably damaging Het
Neb A G 2: 52,149,213 I6938T probably benign Het
Ntrk3 T C 7: 78,451,949 D412G probably benign Het
Olah T C 2: 3,342,942 E211G probably damaging Het
Olfr1123 T C 2: 87,418,837 L261S probably damaging Het
Paxbp1 A T 16: 91,037,273 N208K possibly damaging Het
Prrc1 T A 18: 57,389,347 M417K probably benign Het
Ptprq G A 10: 107,686,563 T543M probably benign Het
Rasal1 T C 5: 120,666,404 V447A probably damaging Het
Rbl1 T C 2: 157,194,048 E287G probably benign Het
Tec A G 5: 72,779,415 probably null Het
Tex26 A G 5: 149,456,942 D61G probably damaging Het
Tgfb1i1 G A 7: 128,252,562 probably benign Het
Tmem132c T C 5: 127,359,611 Y55H possibly damaging Het
Tmem63a T A 1: 180,952,974 probably null Het
Umod C T 7: 119,469,467 G452D probably damaging Het
Vcan G A 13: 89,690,657 T2256I possibly damaging Het
Vmn1r31 A T 6: 58,472,793 I29K probably benign Het
Vmn2r117 A G 17: 23,477,225 Y403H possibly damaging Het
Vmn2r124 A T 17: 18,066,502 probably null Het
Vmn2r65 T A 7: 84,946,516 K320M possibly damaging Het
Other mutations in Cand1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Cand1 APN 10 119211135 missense probably benign 0.00
IGL00917:Cand1 APN 10 119210936 missense possibly damaging 0.87
IGL01383:Cand1 APN 10 119208167 missense probably damaging 0.96
IGL02016:Cand1 APN 10 119212568 missense probably damaging 0.98
IGL02271:Cand1 APN 10 119211721 missense probably damaging 1.00
IGL02282:Cand1 APN 10 119210709 missense probably benign 0.26
IGL02494:Cand1 APN 10 119213617 missense probably benign
IGL02675:Cand1 APN 10 119219697 missense probably damaging 0.99
IGL02796:Cand1 UTSW 10 119213638 missense probably damaging 1.00
R0114:Cand1 UTSW 10 119216522 missense probably benign
R0667:Cand1 UTSW 10 119216520 missense probably benign 0.00
R1589:Cand1 UTSW 10 119213566 missense probably damaging 0.97
R1591:Cand1 UTSW 10 119211869 missense possibly damaging 0.63
R1626:Cand1 UTSW 10 119210014 missense possibly damaging 0.46
R1771:Cand1 UTSW 10 119208306 missense probably benign 0.05
R1937:Cand1 UTSW 10 119203020 missense probably damaging 1.00
R1951:Cand1 UTSW 10 119208020 splice site probably benign
R1990:Cand1 UTSW 10 119210067 missense probably damaging 1.00
R3522:Cand1 UTSW 10 119239197 missense probably benign 0.01
R4207:Cand1 UTSW 10 119211845 missense probably damaging 1.00
R4209:Cand1 UTSW 10 119211558 missense probably benign 0.24
R4502:Cand1 UTSW 10 119216667 missense probably benign
R4791:Cand1 UTSW 10 119210702 missense probably benign 0.02
R4841:Cand1 UTSW 10 119213546 critical splice donor site probably null
R4842:Cand1 UTSW 10 119213546 critical splice donor site probably null
R5326:Cand1 UTSW 10 119212028 missense probably benign
R5606:Cand1 UTSW 10 119211454 missense possibly damaging 0.63
R5613:Cand1 UTSW 10 119215323 missense possibly damaging 0.93
R5768:Cand1 UTSW 10 119211005 missense probably benign 0.06
R5884:Cand1 UTSW 10 119213765 missense possibly damaging 0.90
R6006:Cand1 UTSW 10 119210028 missense possibly damaging 0.83
R6062:Cand1 UTSW 10 119218010 missense possibly damaging 0.89
R6734:Cand1 UTSW 10 119211992 missense possibly damaging 0.67
R6838:Cand1 UTSW 10 119210030 missense probably benign 0.21
R7058:Cand1 UTSW 10 119211754 missense probably benign 0.00
R7342:Cand1 UTSW 10 119211787 missense possibly damaging 0.64
R7425:Cand1 UTSW 10 119216243 missense probably benign 0.00
R7705:Cand1 UTSW 10 119212438 critical splice donor site probably null
R7812:Cand1 UTSW 10 119217959 missense probably benign 0.04
Posted On2015-04-16