Incidental Mutation 'R6992:Cdc16'
ID 543908
Institutional Source Beutler Lab
Gene Symbol Cdc16
Ensembl Gene ENSMUSG00000038416
Gene Name CDC16 cell division cycle 16
Synonyms 2700071J12Rik, 2810431D22Rik
MMRRC Submission 045098-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # R6992 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 13807676-13831938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13809188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 51 (A51E)
Ref Sequence ENSEMBL: ENSMUSP00000047950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043962] [ENSMUST00000130173] [ENSMUST00000134645]
AlphaFold Q8R349
Predicted Effect probably benign
Transcript: ENSMUST00000043962
AA Change: A51E

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416
AA Change: A51E

DomainStartEndE-ValueType
Pfam:TPR_9 11 63 1.8e-3 PFAM
Pfam:ANAPC3 15 95 3.5e-23 PFAM
TPR 130 163 1.17e1 SMART
Blast:TPR 299 333 2e-8 BLAST
Blast:TPR 334 367 1e-14 BLAST
TPR 368 401 1.48e1 SMART
Blast:TPR 402 435 7e-15 BLAST
TPR 445 478 6.68e-6 SMART
TPR 479 512 1.74e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130173
Predicted Effect probably benign
Transcript: ENSMUST00000134645
Meta Mutation Damage Score 0.3023 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions as a protein ubiquitin ligase and is a component of the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting cell cycle proteins for degredation by the 26S proteasome. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is often involved in protein-protein interactions and the assembly of multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,099,990 (GRCm39) S171N possibly damaging Het
6030468B19Rik T G 11: 117,688,594 (GRCm39) M1R probably null Het
A730049H05Rik T C 6: 92,804,975 (GRCm39) probably benign Het
AC125199.3 G T 16: 88,608,915 (GRCm39) H52Q possibly damaging Het
Adam34 A T 8: 44,105,642 (GRCm39) M1K probably null Het
Adgrf5 T C 17: 43,763,214 (GRCm39) probably null Het
Antxr2 T C 5: 98,108,564 (GRCm39) T316A probably benign Het
Cc2d1a A T 8: 84,861,542 (GRCm39) V714D probably damaging Het
Cd96 A G 16: 45,870,087 (GRCm39) S461P possibly damaging Het
Chd4 T A 6: 125,091,339 (GRCm39) D1243E probably benign Het
Cntf A T 19: 12,742,697 (GRCm39) I21N probably damaging Het
Col11a2 C T 17: 34,266,118 (GRCm39) A282V probably benign Het
Col14a1 T A 15: 55,274,958 (GRCm39) probably null Het
Cyp2b9 T C 7: 25,900,564 (GRCm39) Y401H probably benign Het
Dlgap4 A G 2: 156,590,860 (GRCm39) probably null Het
Fancd2 T C 6: 113,547,979 (GRCm39) probably null Het
Fcgbpl1 T A 7: 27,839,608 (GRCm39) F474I probably benign Het
Frem1 A G 4: 82,858,599 (GRCm39) V1622A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Gstm4 A G 3: 107,951,981 (GRCm39) M3T possibly damaging Het
Hdac10 T C 15: 89,009,534 (GRCm39) D466G probably benign Het
Hook2 A G 8: 85,729,185 (GRCm39) E625G probably damaging Het
Hspbp1 G C 7: 4,667,714 (GRCm39) P260A probably benign Het
Igdcc3 C A 9: 65,088,853 (GRCm39) Q411K probably damaging Het
Il18rap G A 1: 40,581,195 (GRCm39) E356K probably benign Het
Inpp4a A T 1: 37,428,772 (GRCm39) M699L probably damaging Het
Klhdc1 A G 12: 69,300,531 (GRCm39) H157R probably damaging Het
Klhl6 G T 16: 19,772,337 (GRCm39) T336N probably damaging Het
Marchf7 T C 2: 60,059,428 (GRCm39) probably null Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlh3 T A 12: 85,282,494 (GRCm39) N1412Y probably damaging Het
Mrps27 A G 13: 99,541,522 (GRCm39) M209V probably benign Het
Mtor A T 4: 148,548,932 (GRCm39) T572S probably benign Het
Neurog1 T C 13: 56,399,363 (GRCm39) K128R probably damaging Het
Or10g6 T A 9: 39,933,896 (GRCm39) L69* probably null Het
Or2b4 T A 17: 38,116,754 (GRCm39) N239K probably damaging Het
Or5b122 A G 19: 13,562,811 (GRCm39) I48V possibly damaging Het
Pcdhgb1 A G 18: 37,814,652 (GRCm39) K381R probably benign Het
Pdzd2 T C 15: 12,457,945 (GRCm39) D306G probably damaging Het
Plekha5 C T 6: 140,489,634 (GRCm39) T237I probably damaging Het
Plscr1l1 T C 9: 92,236,725 (GRCm39) M128T probably benign Het
Pole A T 5: 110,480,365 (GRCm39) I103F probably damaging Het
Ppfia2 A T 10: 106,310,715 (GRCm39) Q74L possibly damaging Het
Ppm1d T C 11: 85,223,178 (GRCm39) F261S probably damaging Het
Psg21 A T 7: 18,388,668 (GRCm39) probably null Het
Ptprg T A 14: 11,962,602 (GRCm38) F133L probably damaging Het
Rom1 G A 19: 8,906,569 (GRCm39) probably benign Het
Rtn3 A G 19: 7,412,489 (GRCm39) F762L probably damaging Het
Sec23ip T C 7: 128,367,164 (GRCm39) S600P probably benign Het
Sema4b T A 7: 79,869,900 (GRCm39) I396N probably damaging Het
Serpina3k T A 12: 104,307,366 (GRCm39) D199E probably benign Het
Slc19a1 A G 10: 76,885,540 (GRCm39) D480G possibly damaging Het
Slc8b1 G A 5: 120,665,880 (GRCm39) V404M probably damaging Het
Slco1a4 T C 6: 141,765,330 (GRCm39) D304G probably benign Het
Smpdl3b G T 4: 132,472,452 (GRCm39) A107D possibly damaging Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tmem245 A G 4: 56,937,940 (GRCm39) F203L probably benign Het
Tnip1 T A 11: 54,809,542 (GRCm39) I442F probably benign Het
Txnip A G 3: 96,466,439 (GRCm39) K127R possibly damaging Het
Usp32 A C 11: 84,922,914 (GRCm39) L172R probably damaging Het
Vmn2r66 A G 7: 84,654,436 (GRCm39) S508P possibly damaging Het
Vwa5b2 T A 16: 20,416,952 (GRCm39) Y550N probably damaging Het
Wdr81 G A 11: 75,342,612 (GRCm39) A885V probably benign Het
Other mutations in Cdc16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Cdc16 APN 8 13,817,575 (GRCm39) nonsense probably null
IGL01109:Cdc16 APN 8 13,814,606 (GRCm39) missense probably benign 0.00
IGL01475:Cdc16 APN 8 13,831,542 (GRCm39) missense probably benign
IGL02729:Cdc16 APN 8 13,829,250 (GRCm39) missense possibly damaging 0.93
IGL03389:Cdc16 APN 8 13,809,179 (GRCm39) missense probably damaging 1.00
R0026:Cdc16 UTSW 8 13,809,130 (GRCm39) splice site probably null
R0373:Cdc16 UTSW 8 13,829,264 (GRCm39) missense probably benign 0.04
R0520:Cdc16 UTSW 8 13,810,569 (GRCm39) critical splice donor site probably null
R0564:Cdc16 UTSW 8 13,831,618 (GRCm39) missense probably damaging 1.00
R1470:Cdc16 UTSW 8 13,808,992 (GRCm39) splice site probably benign
R1487:Cdc16 UTSW 8 13,821,445 (GRCm39) missense probably benign 0.17
R1753:Cdc16 UTSW 8 13,814,688 (GRCm39) nonsense probably null
R1883:Cdc16 UTSW 8 13,825,738 (GRCm39) missense probably damaging 1.00
R3087:Cdc16 UTSW 8 13,809,004 (GRCm39) missense probably damaging 0.98
R3418:Cdc16 UTSW 8 13,819,489 (GRCm39) nonsense probably null
R3756:Cdc16 UTSW 8 13,827,609 (GRCm39) critical splice donor site probably null
R4152:Cdc16 UTSW 8 13,812,857 (GRCm39) missense probably damaging 1.00
R4842:Cdc16 UTSW 8 13,831,644 (GRCm39) utr 3 prime probably benign
R5122:Cdc16 UTSW 8 13,814,570 (GRCm39) missense probably damaging 1.00
R5492:Cdc16 UTSW 8 13,813,915 (GRCm39) splice site probably null
R5982:Cdc16 UTSW 8 13,831,399 (GRCm39) missense possibly damaging 0.73
R6145:Cdc16 UTSW 8 13,817,573 (GRCm39) missense possibly damaging 0.96
R6154:Cdc16 UTSW 8 13,818,609 (GRCm39) missense possibly damaging 0.87
R6611:Cdc16 UTSW 8 13,831,512 (GRCm39) missense probably benign
R7011:Cdc16 UTSW 8 13,819,451 (GRCm39) missense probably damaging 1.00
R7484:Cdc16 UTSW 8 13,827,605 (GRCm39) missense probably benign 0.01
R7593:Cdc16 UTSW 8 13,827,605 (GRCm39) missense probably benign 0.01
R7946:Cdc16 UTSW 8 13,812,882 (GRCm39) missense probably benign 0.22
R9019:Cdc16 UTSW 8 13,831,501 (GRCm39) missense probably benign
R9655:Cdc16 UTSW 8 13,809,153 (GRCm39) missense possibly damaging 0.93
R9668:Cdc16 UTSW 8 13,817,552 (GRCm39) missense possibly damaging 0.94
R9796:Cdc16 UTSW 8 13,807,693 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TTTGGGCAGACAAGGTAGC -3'
(R):5'- ACTTGAAGTGAGAGCCTTGC -3'

Sequencing Primer
(F):5'- AGACAAGGTAGCTTCACTCTCTCATG -3'
(R):5'- GCTGCTACTTAGAGAAACCTGGTC -3'
Posted On 2019-05-13