Incidental Mutation 'R4207:Cand1'
ID 318977
Institutional Source Beutler Lab
Gene Symbol Cand1
Ensembl Gene ENSMUSG00000020114
Gene Name cullin associated and neddylation disassociated 1
Synonyms 6330512O03Rik, 2310038O07Rik, D10Ertd516e
MMRRC Submission 041036-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4207 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 119035160-119075960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119047750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 580 (D580G)
Ref Sequence ENSEMBL: ENSMUSP00000020315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020315] [ENSMUST00000126373]
AlphaFold Q6ZQ38
Predicted Effect probably damaging
Transcript: ENSMUST00000020315
AA Change: D580G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020315
Gene: ENSMUSG00000020114
AA Change: D580G

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: ENSMUST00000148802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149155
Meta Mutation Damage Score 0.5694 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (60/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,872,551 (GRCm39) Q17* probably null Het
Acap2 T A 16: 30,938,245 (GRCm39) N293I probably damaging Het
Adgrg4 G A X: 55,964,109 (GRCm39) V1893I possibly damaging Het
Aff1 T C 5: 103,966,854 (GRCm39) probably null Het
Ap1b1 A G 11: 4,981,637 (GRCm39) D515G probably damaging Het
Brk1 T C 6: 113,592,805 (GRCm39) Y63H possibly damaging Het
Casp4 A G 9: 5,328,451 (GRCm39) D311G probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ctnnd2 G T 15: 30,972,973 (GRCm39) V1033F probably damaging Het
Dhx29 G T 13: 113,064,483 (GRCm39) A53S probably benign Het
Dis3 T G 14: 99,332,752 (GRCm39) I227L probably benign Het
Efhc2 T C X: 17,096,789 (GRCm39) N186S possibly damaging Het
Efl1 T C 7: 82,400,024 (GRCm39) V592A probably damaging Het
Elovl7 A T 13: 108,419,040 (GRCm39) Q224L possibly damaging Het
Fcgr3 T A 1: 170,881,644 (GRCm39) K160N probably benign Het
Flg A G 3: 93,187,169 (GRCm39) Y207C probably benign Het
Fmn2 A G 1: 174,409,521 (GRCm39) T585A unknown Het
Gm7135 T C 1: 97,397,620 (GRCm39) noncoding transcript Het
Gm8104 G T 14: 42,959,091 (GRCm39) D94Y probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Kbtbd4 T C 2: 90,740,099 (GRCm39) F495L probably damaging Het
Lingo2 T C 4: 35,709,810 (GRCm39) I57V probably benign Het
Me2 T C 18: 73,924,156 (GRCm39) K352R probably benign Het
Mthfsd A G 8: 121,832,365 (GRCm39) V133A probably damaging Het
Nav2 T A 7: 49,222,046 (GRCm39) probably null Het
Nav2 T A 7: 49,246,979 (GRCm39) I2168N probably damaging Het
Nlrp10 T A 7: 108,523,548 (GRCm39) D644V possibly damaging Het
Oplah C T 15: 76,186,910 (GRCm39) R635H probably damaging Het
Or10n1 A G 9: 39,525,253 (GRCm39) Y130C possibly damaging Het
Or2c1 T C 16: 3,657,434 (GRCm39) L199P probably damaging Het
Or5b117 T C 19: 13,431,835 (GRCm39) I15M probably benign Het
Peli1 A G 11: 21,097,115 (GRCm39) probably null Het
Pfkfb1 A T X: 149,405,184 (GRCm39) D208V possibly damaging Het
Pld5 T G 1: 175,821,441 (GRCm39) T242P probably damaging Het
Rbm5 A G 9: 107,627,682 (GRCm39) S420P probably benign Het
Rhag A T 17: 41,142,544 (GRCm39) I250F probably damaging Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Scaf4 C T 16: 90,057,103 (GRCm39) V83I unknown Het
Slc24a2 A G 4: 87,145,442 (GRCm39) V204A probably damaging Het
Slc5a8 G T 10: 88,747,275 (GRCm39) L409F probably damaging Het
Spns3 A T 11: 72,429,187 (GRCm39) V199E probably damaging Het
Sspo A G 6: 48,455,227 (GRCm39) T3030A probably benign Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Stk39 G T 2: 68,051,264 (GRCm39) T527K probably benign Het
Sult2a1 T A 7: 13,535,472 (GRCm39) T194S probably benign Het
Tamm41 AGGG AGG 6: 114,989,320 (GRCm39) probably benign Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Umodl1 G A 17: 31,178,341 (GRCm39) V106I probably damaging Het
Vmn2r85 A C 10: 130,254,574 (GRCm39) C703W probably damaging Het
Vmn2r92 G A 17: 18,404,523 (GRCm39) V556M possibly damaging Het
Zfp292 T C 4: 34,806,079 (GRCm39) I2322V probably benign Het
Zfp644 T C 5: 106,766,142 (GRCm39) E93G probably damaging Het
Zfp81 C T 17: 33,553,890 (GRCm39) C308Y probably damaging 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
IGL02494:Cand1 APN 10 119,049,522 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CACAGGCCTCAGATCTATCTTC -3'
(R):5'- ATCCTCATGTTCAGGCTCTGG -3'

Sequencing Primer
(F):5'- GGCCTCAGATCTATCTTCAAAGGTG -3'
(R):5'- ATGTTCAGGCTCTGGTCCCTC -3'
Posted On 2015-06-10