Incidental Mutation 'R5098:Cdc27'
ID 388141
Institutional Source Beutler Lab
Gene Symbol Cdc27
Ensembl Gene ENSMUSG00000020687
Gene Name cell division cycle 27
Synonyms APC3
MMRRC Submission 042687-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R5098 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 104393571-104441446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104398113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 749 (K749R)
Ref Sequence ENSEMBL: ENSMUSP00000091452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093923] [ENSMUST00000106962]
AlphaFold A2A6Q5
Predicted Effect probably damaging
Transcript: ENSMUST00000093923
AA Change: K749R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091452
Gene: ENSMUSG00000020687
AA Change: K749R

DomainStartEndE-ValueType
Pfam:Apc3 17 95 2.2e-23 PFAM
TPR 115 148 4.45e-2 SMART
low complexity region 349 362 N/A INTRINSIC
TPR 500 533 1.33e1 SMART
TPR 568 601 2.91e-6 SMART
TPR 602 635 7.06e-5 SMART
TPR 636 669 3.96e-8 SMART
TPR 670 703 7.45e-4 SMART
TPR 704 737 6.92e1 SMART
TPR 738 771 1.17e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106962
AA Change: K755R

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102575
Gene: ENSMUSG00000020687
AA Change: K755R

DomainStartEndE-ValueType
Pfam:ANAPC3 17 94 7.7e-25 PFAM
TPR 115 148 4.45e-2 SMART
low complexity region 355 368 N/A INTRINSIC
TPR 506 539 1.33e1 SMART
TPR 574 607 2.91e-6 SMART
TPR 608 641 7.06e-5 SMART
TPR 642 675 3.96e-8 SMART
TPR 676 709 7.45e-4 SMART
TPR 710 743 6.92e1 SMART
TPR 744 777 1.17e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127506
Meta Mutation Damage Score 0.5430 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,847,944 (GRCm39) I784V probably benign Het
Agxt A G 1: 93,065,029 (GRCm39) H146R probably benign Het
Art5 A G 7: 101,747,177 (GRCm39) F201L probably damaging Het
Bcl2a1b T A 9: 89,081,432 (GRCm39) M7K probably benign Het
Card10 G A 15: 78,660,917 (GRCm39) A1030V probably benign Het
Ccdc66 G A 14: 27,220,750 (GRCm39) T58M probably damaging Het
Cd72 C T 4: 43,452,610 (GRCm39) G74R probably damaging Het
Commd3 A T 2: 18,678,988 (GRCm39) T102S possibly damaging Het
Cyp2f2 A G 7: 26,829,304 (GRCm39) T270A possibly damaging Het
Dclre1b A G 3: 103,716,452 (GRCm39) probably benign Het
Dennd1b T A 1: 139,061,459 (GRCm39) D380E probably damaging Het
Dhx58 T C 11: 100,585,999 (GRCm39) E674G probably benign Het
Dnaaf9 A G 2: 130,640,101 (GRCm39) S128P probably damaging Het
Ecpas T C 4: 58,877,048 (GRCm39) D129G probably damaging Het
Exoc5 T C 14: 49,286,304 (GRCm39) T108A possibly damaging Het
Fat4 T C 3: 38,942,438 (GRCm39) S444P probably benign Het
Gm3327 A T 14: 44,362,292 (GRCm39) I64F unknown Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gpr15 T A 16: 58,538,890 (GRCm39) R66S probably damaging Het
Hmga1b T C 11: 120,654,018 (GRCm39) S102P probably benign Het
Kat6b G A 14: 21,669,083 (GRCm39) probably benign Het
Kdm1b A G 13: 47,216,467 (GRCm39) Y279C probably damaging Het
Krtap9-3 C A 11: 99,488,816 (GRCm39) C22F probably benign Het
Map3k14 T A 11: 103,115,185 (GRCm39) D817V probably damaging Het
Mybpc1 T C 10: 88,381,926 (GRCm39) D588G probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t6 A G 14: 14,175,683 (GRCm38) V133A probably benign Het
Or5g29 A G 2: 85,420,976 (GRCm39) I31V probably benign Het
Pcdhb20 A G 18: 37,637,858 (GRCm39) D128G probably damaging Het
Pgap6 A T 17: 26,337,902 (GRCm39) N429Y probably damaging Het
Ppil6 A G 10: 41,366,616 (GRCm39) E47G probably null Het
Rad17 A T 13: 100,754,154 (GRCm39) *689K probably null Het
Scin A T 12: 40,127,541 (GRCm39) Y416* probably null Het
Serf1 A G 13: 100,245,575 (GRCm39) T18A probably benign Het
Sik2 T C 9: 50,906,891 (GRCm39) probably benign Het
Slc39a8 C A 3: 135,563,918 (GRCm39) N254K probably benign Het
Spint3 A G 2: 164,411,821 (GRCm39) F63L probably damaging Het
Suox A T 10: 128,507,027 (GRCm39) S334T probably damaging Het
Tas2r119 A G 15: 32,178,228 (GRCm39) M265V probably benign Het
Tmem126b A G 7: 90,118,850 (GRCm39) L146P probably damaging Het
Trpc3 G T 3: 36,717,047 (GRCm39) D330E probably benign Het
Ugt2a2 T C 5: 87,612,040 (GRCm39) E290G possibly damaging Het
Ugt2b37 T A 5: 87,390,812 (GRCm39) T352S probably damaging Het
Vmn1r40 T C 6: 89,691,930 (GRCm39) V249A probably damaging Het
Zc3h18 A G 8: 123,113,608 (GRCm39) D200G probably damaging Het
Zfp652 T C 11: 95,643,762 (GRCm39) V140A probably damaging Het
Other mutations in Cdc27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Cdc27 APN 11 104,412,258 (GRCm39) missense probably benign 0.01
IGL00673:Cdc27 APN 11 104,419,261 (GRCm39) missense probably damaging 1.00
IGL00949:Cdc27 APN 11 104,420,229 (GRCm39) missense probably damaging 1.00
IGL01529:Cdc27 APN 11 104,398,042 (GRCm39) missense probably damaging 1.00
IGL01894:Cdc27 APN 11 104,417,747 (GRCm39) missense probably benign 0.00
IGL02096:Cdc27 APN 11 104,419,394 (GRCm39) splice site probably benign
IGL02124:Cdc27 APN 11 104,413,557 (GRCm39) missense probably damaging 0.99
IGL02444:Cdc27 APN 11 104,413,542 (GRCm39) splice site probably benign
IGL02589:Cdc27 APN 11 104,396,470 (GRCm39) missense probably benign 0.04
IGL02851:Cdc27 APN 11 104,417,807 (GRCm39) splice site probably benign
IGL02861:Cdc27 APN 11 104,413,657 (GRCm39) splice site probably benign
IGL02952:Cdc27 APN 11 104,408,290 (GRCm39) missense probably damaging 1.00
IGL03103:Cdc27 APN 11 104,403,806 (GRCm39) missense probably benign 0.21
R0344:Cdc27 UTSW 11 104,417,817 (GRCm39) splice site probably benign
R0365:Cdc27 UTSW 11 104,419,250 (GRCm39) missense possibly damaging 0.68
R0366:Cdc27 UTSW 11 104,396,474 (GRCm39) missense probably damaging 0.99
R0426:Cdc27 UTSW 11 104,403,853 (GRCm39) splice site probably null
R0505:Cdc27 UTSW 11 104,419,114 (GRCm39) missense probably benign
R0639:Cdc27 UTSW 11 104,422,560 (GRCm39) missense probably damaging 1.00
R0925:Cdc27 UTSW 11 104,416,875 (GRCm39) critical splice donor site probably null
R0927:Cdc27 UTSW 11 104,396,467 (GRCm39) missense possibly damaging 0.88
R1414:Cdc27 UTSW 11 104,412,251 (GRCm39) missense probably benign 0.26
R1765:Cdc27 UTSW 11 104,425,607 (GRCm39) missense probably damaging 1.00
R1822:Cdc27 UTSW 11 104,413,648 (GRCm39) missense probably benign 0.16
R2449:Cdc27 UTSW 11 104,396,464 (GRCm39) missense probably benign 0.03
R3404:Cdc27 UTSW 11 104,398,026 (GRCm39) missense probably damaging 1.00
R3405:Cdc27 UTSW 11 104,398,026 (GRCm39) missense probably damaging 1.00
R3406:Cdc27 UTSW 11 104,398,026 (GRCm39) missense probably damaging 1.00
R3776:Cdc27 UTSW 11 104,406,263 (GRCm39) missense probably damaging 1.00
R4037:Cdc27 UTSW 11 104,398,033 (GRCm39) missense probably damaging 1.00
R4385:Cdc27 UTSW 11 104,425,640 (GRCm39) missense probably benign 0.10
R4451:Cdc27 UTSW 11 104,408,221 (GRCm39) missense probably benign 0.05
R4452:Cdc27 UTSW 11 104,408,221 (GRCm39) missense probably benign 0.05
R4530:Cdc27 UTSW 11 104,419,252 (GRCm39) missense possibly damaging 0.68
R4956:Cdc27 UTSW 11 104,420,221 (GRCm39) missense probably damaging 0.99
R4988:Cdc27 UTSW 11 104,416,950 (GRCm39) missense possibly damaging 0.95
R5130:Cdc27 UTSW 11 104,425,600 (GRCm39) missense probably benign 0.07
R5384:Cdc27 UTSW 11 104,397,966 (GRCm39) missense probably benign 0.02
R5876:Cdc27 UTSW 11 104,406,244 (GRCm39) missense probably benign 0.30
R6238:Cdc27 UTSW 11 104,419,270 (GRCm39) missense probably damaging 1.00
R6318:Cdc27 UTSW 11 104,419,520 (GRCm39) missense probably damaging 1.00
R6354:Cdc27 UTSW 11 104,425,574 (GRCm39) missense probably damaging 1.00
R6467:Cdc27 UTSW 11 104,413,602 (GRCm39) missense probably damaging 1.00
R6485:Cdc27 UTSW 11 104,396,474 (GRCm39) missense probably benign 0.15
R7237:Cdc27 UTSW 11 104,408,245 (GRCm39) missense probably benign
R7315:Cdc27 UTSW 11 104,406,270 (GRCm39) missense possibly damaging 0.95
R7534:Cdc27 UTSW 11 104,399,240 (GRCm39) missense probably damaging 1.00
R7838:Cdc27 UTSW 11 104,403,830 (GRCm39) missense probably damaging 0.98
R8150:Cdc27 UTSW 11 104,406,286 (GRCm39) missense probably damaging 1.00
R8465:Cdc27 UTSW 11 104,408,317 (GRCm39) missense probably benign 0.06
R8935:Cdc27 UTSW 11 104,398,026 (GRCm39) missense probably damaging 1.00
R8978:Cdc27 UTSW 11 104,399,211 (GRCm39) missense possibly damaging 0.95
R9336:Cdc27 UTSW 11 104,396,496 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCACTGTAGCTTTCTGAATG -3'
(R):5'- TGGTGAGGTTTACTGGAAACTCC -3'

Sequencing Primer
(F):5'- GCTATGGAGCCTCTGTAGGATAC -3'
(R):5'- GAGGTTTACTGGAAACTCCTACCTG -3'
Posted On 2016-06-06