Incidental Mutation 'R7237:Cdc27'
ID 562917
Institutional Source Beutler Lab
Gene Symbol Cdc27
Ensembl Gene ENSMUSG00000020687
Gene Name cell division cycle 27
Synonyms APC3
MMRRC Submission 045344-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R7237 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 104393571-104441446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104408245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 555 (V555A)
Ref Sequence ENSEMBL: ENSMUSP00000091452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093923] [ENSMUST00000106961] [ENSMUST00000106962]
AlphaFold A2A6Q5
Predicted Effect probably benign
Transcript: ENSMUST00000093923
AA Change: V555A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091452
Gene: ENSMUSG00000020687
AA Change: V555A

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 probably benign
Transcript: ENSMUST00000106961
SMART Domains Protein: ENSMUSP00000102574
Gene: ENSMUSG00000020687

DomainStartEndE-ValueType
Pfam:Apc3 17 95 1.9e-23 PFAM
Pfam:TPR_2 115 148 9.2e-5 PFAM
Pfam:TPR_1 116 148 9.1e-5 PFAM
low complexity region 355 368 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106962
AA Change: V561A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102575
Gene: ENSMUSG00000020687
AA Change: V561A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (83/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,854,783 (GRCm39) C1536* probably null Het
Armc9 C A 1: 86,092,571 (GRCm39) Q169K possibly damaging Het
Aspm T A 1: 139,405,667 (GRCm39) M1518K possibly damaging Het
AU018091 A G 7: 3,209,006 (GRCm39) I360T probably benign Het
BB014433 C A 8: 15,091,765 (GRCm39) V363L probably benign Het
Bcam T C 7: 19,503,232 (GRCm39) probably null Het
Cacna1g T C 11: 94,328,705 (GRCm39) S1071G probably benign Het
Card9 A T 2: 26,246,787 (GRCm39) S354T probably benign Het
Ccdc87 A G 19: 4,889,790 (GRCm39) N94S probably benign Het
Coro1a T A 7: 126,299,478 (GRCm39) D411V probably benign Het
Cybrd1 GGTCCTGCAC G 2: 70,948,553 (GRCm39) probably benign Het
Cyth1 A T 11: 118,076,321 (GRCm39) I95N probably damaging Het
Dnah7b A T 1: 46,179,126 (GRCm39) E933V probably damaging Het
Dync2h1 A T 9: 6,993,966 (GRCm39) I3968N probably benign Het
Fam184a T C 10: 53,510,489 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,510 (GRCm39) L338F probably damaging Het
Fcgr3 A G 1: 170,886,870 (GRCm39) L18P probably damaging Het
Gbp5 T C 3: 142,213,461 (GRCm39) V459A probably benign Het
Gja4 A T 4: 127,205,956 (GRCm39) M269K probably benign Het
Gm4787 A G 12: 81,424,442 (GRCm39) V572A probably damaging Het
Grin2d G T 7: 45,515,600 (GRCm39) S131* probably null Het
Gys1 A G 7: 45,104,586 (GRCm39) D671G probably benign Het
Haspin T C 11: 73,027,712 (GRCm39) N459S probably benign Het
Hdac10 G T 15: 89,009,580 (GRCm39) Q451K probably benign Het
Hdac9 T C 12: 34,424,139 (GRCm39) probably null Het
Hmcn1 A G 1: 150,598,394 (GRCm39) V1636A probably damaging Het
Hpca A G 4: 129,012,407 (GRCm39) L43P probably damaging Het
Hycc2 G A 1: 58,569,107 (GRCm39) Q491* probably null Het
Insm1 C A 2: 146,064,448 (GRCm39) A88E possibly damaging Het
Itga9 A G 9: 118,465,670 (GRCm39) K175E probably benign Het
Kif13a A G 13: 46,962,632 (GRCm39) probably null Het
Kif20b T A 19: 34,928,005 (GRCm39) L1089H probably damaging Het
Lamp5 A T 2: 135,901,755 (GRCm39) H152L probably benign Het
Lrp4 T C 2: 91,303,528 (GRCm39) F76L probably benign Het
Magi3 T C 3: 103,935,227 (GRCm39) D902G probably damaging Het
Map10 C T 8: 126,397,963 (GRCm39) P452L probably benign Het
Mapk6 A G 9: 75,304,895 (GRCm39) L174P probably damaging Het
Meak7 C T 8: 120,489,054 (GRCm39) G410S probably damaging Het
Ndufa4 C T 6: 11,906,018 (GRCm39) probably null Het
Nedd4 A T 9: 72,632,346 (GRCm39) E393D probably benign Het
Nlrp4b G A 7: 10,449,143 (GRCm39) V449I probably benign Het
Nufip2 T A 11: 77,583,596 (GRCm39) N503K probably benign Het
Or10ac1 T C 6: 42,515,581 (GRCm39) D125G probably damaging Het
Or6y1 C T 1: 174,276,905 (GRCm39) R239C probably benign Het
P4ha1 A G 10: 59,184,065 (GRCm39) T176A probably benign Het
Palm3 A G 8: 84,756,117 (GRCm39) K543R probably benign Het
Parvg G A 15: 84,225,557 (GRCm39) A302T probably benign Het
Pcdh15 A G 10: 74,420,023 (GRCm39) D1227G possibly damaging Het
Pdzd8 C T 19: 59,333,571 (GRCm39) G150D probably damaging Het
Pitpnm2 A G 5: 124,263,360 (GRCm39) probably null Het
Pld5 T C 1: 176,102,301 (GRCm39) Q47R possibly damaging Het
Ppp2r5d T C 17: 46,997,206 (GRCm39) S329G possibly damaging Het
Prss56 T C 1: 87,112,637 (GRCm39) V144A probably damaging Het
Psg28 A T 7: 18,161,769 (GRCm39) Y245N possibly damaging Het
Ptpn3 C T 4: 57,239,625 (GRCm39) V302I probably damaging Het
Ptprn2 A G 12: 117,125,347 (GRCm39) H627R probably benign Het
Rasgrp2 A T 19: 6,454,838 (GRCm39) H226L possibly damaging Het
Rbm20 C T 19: 53,839,930 (GRCm39) T973M probably benign Het
Rigi T A 4: 40,205,938 (GRCm39) I885F probably benign Het
Riok2 T A 17: 17,598,045 (GRCm39) L44Q probably damaging Het
Rusc1 G T 3: 88,998,805 (GRCm39) Q326K possibly damaging Het
Rxylt1 A T 10: 121,917,523 (GRCm39) L330* probably null Het
Sart3 A T 5: 113,892,307 (GRCm39) H397Q possibly damaging Het
Sec31b T A 19: 44,506,147 (GRCm39) T920S probably damaging Het
Serpinb13 A G 1: 106,926,679 (GRCm39) E225G probably damaging Het
Slc25a47 T C 12: 108,821,386 (GRCm39) L165P probably damaging Het
Slc2a10 G A 2: 165,357,197 (GRCm39) V286I probably benign Het
Slc39a13 G T 2: 90,895,979 (GRCm39) T174N probably benign Het
Slc7a13 T A 4: 19,839,364 (GRCm39) N322K probably benign Het
Stk38 T C 17: 29,193,620 (GRCm39) T326A possibly damaging Het
Sult1a1 T C 7: 126,272,622 (GRCm39) M244V probably benign Het
Tas2r144 C T 6: 42,192,800 (GRCm39) T180I probably damaging Het
Tbc1d12 T A 19: 38,887,346 (GRCm39) M366K probably benign Het
Terb1 T C 8: 105,221,959 (GRCm39) I147V possibly damaging Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnxb C A 17: 34,901,170 (GRCm39) L995I possibly damaging Het
Trim34b A G 7: 103,978,794 (GRCm39) T14A possibly damaging Het
Urb1 T C 16: 90,588,054 (GRCm39) E418G probably damaging Het
Vmn1r12 T A 6: 57,136,550 (GRCm39) C216S possibly damaging Het
Vmn2r90 T A 17: 17,924,249 (GRCm39) V16E possibly damaging Het
Vps11 A T 9: 44,265,803 (GRCm39) V492D probably damaging Het
Wdr62 A C 7: 29,969,869 (GRCm39) probably null Het
Zc3h14 T A 12: 98,746,408 (GRCm39) M539K probably benign Het
Zfp871 A T 17: 32,994,289 (GRCm39) H295Q 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
R5098:Cdc27 UTSW 11 104,398,113 (GRCm39) missense probably damaging 1.00
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
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'- CAGGACTAGATTTGTTCTGATGATC -3'
(R):5'- AGTCCTGGGAAGACAGTAGC -3'

Sequencing Primer
(F):5'- TCAAAAGCTATGCTGGGGTC -3'
(R):5'- AGACAGTAGCGGCACTGCAC -3'
Posted On 2019-06-26