Incidental Mutation 'IGL00850:Cdc16'
ID9518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc16
Ensembl Gene ENSMUSG00000038416
Gene NameCDC16 cell division cycle 16
Synonyms2810431D22Rik, 2700071J12Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.970) question?
Stock #IGL00850
Quality Score
Status
Chromosome8
Chromosomal Location13757676-13781938 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to G at 13767575 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 295 (Y295*)
Ref Sequence ENSEMBL: ENSMUSP00000047950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043962] [ENSMUST00000130173] [ENSMUST00000134645]
Predicted Effect probably null
Transcript: ENSMUST00000043962
AA Change: Y295*
SMART Domains Protein: ENSMUSP00000047950
Gene: ENSMUSG00000038416
AA Change: Y295*

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 noncoding transcript
Transcript: ENSMUST00000129872
Predicted Effect probably benign
Transcript: ENSMUST00000130173
Predicted Effect probably benign
Transcript: ENSMUST00000134645
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand1 C A 10: 119,211,135 V817L probably benign Het
Cdk12 T A 11: 98,222,665 N758K unknown Het
Cep295 A G 9: 15,322,852 L2216S probably benign Het
Chpf2 A G 5: 24,592,261 E735G probably damaging Het
Chrdl2 A G 7: 100,034,641 T432A probably damaging Het
Cyp4a12b T A 4: 115,438,049 probably null Het
D130043K22Rik T G 13: 24,867,174 D464E probably damaging Het
Dst G T 1: 34,306,624 A7622S probably damaging Het
Fdx1 A T 9: 51,948,649 I127N probably damaging Het
Fem1a A G 17: 56,258,355 I483V possibly damaging Het
Gcc2 C A 10: 58,258,248 D51E probably benign Het
Glrb A G 3: 80,861,781 S178P probably damaging Het
Inpp4b A G 8: 81,856,750 Q161R probably damaging Het
Lrrc45 T C 11: 120,720,610 probably benign Het
Myh3 T C 11: 67,090,855 Y757H probably damaging Het
Myo1h A C 5: 114,315,071 probably benign Het
Nudt13 T A 14: 20,306,350 S114R probably damaging Het
Omg T C 11: 79,502,714 N106S possibly damaging Het
Pbrm1 T C 14: 31,087,619 V1163A probably damaging Het
Pi4k2b T A 5: 52,760,950 Y350* probably null Het
Prr29 C A 11: 106,375,207 T32K possibly damaging Het
Psd4 C T 2: 24,394,286 A54V probably benign Het
Scd3 A G 19: 44,235,808 H160R probably damaging Het
Shroom3 T C 5: 92,951,065 L1387P probably damaging Het
Stk35 A G 2: 129,801,992 T299A probably damaging Het
Thsd7b G A 1: 130,165,077 S1238N probably benign Het
Utp11 T C 4: 124,682,457 K131R probably benign Het
Vps50 C T 6: 3,532,177 Q227* probably null Het
Zan T C 5: 137,464,113 T935A unknown Het
Other mutations in Cdc16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Cdc16 APN 8 13764606 missense probably benign 0.00
IGL01475:Cdc16 APN 8 13781542 missense probably benign
IGL02729:Cdc16 APN 8 13779250 missense possibly damaging 0.93
IGL03389:Cdc16 APN 8 13759179 missense probably damaging 1.00
R0026:Cdc16 UTSW 8 13759130 splice site probably null
R0373:Cdc16 UTSW 8 13779264 missense probably benign 0.04
R0520:Cdc16 UTSW 8 13760569 critical splice donor site probably null
R0564:Cdc16 UTSW 8 13781618 missense probably damaging 1.00
R1470:Cdc16 UTSW 8 13758992 splice site probably benign
R1487:Cdc16 UTSW 8 13771445 missense probably benign 0.17
R1753:Cdc16 UTSW 8 13764688 nonsense probably null
R1883:Cdc16 UTSW 8 13775738 missense probably damaging 1.00
R3087:Cdc16 UTSW 8 13759004 missense probably damaging 0.98
R3418:Cdc16 UTSW 8 13769489 nonsense probably null
R3756:Cdc16 UTSW 8 13777609 critical splice donor site probably null
R4152:Cdc16 UTSW 8 13762857 missense probably damaging 1.00
R4842:Cdc16 UTSW 8 13781644 utr 3 prime probably benign
R5122:Cdc16 UTSW 8 13764570 missense probably damaging 1.00
R5492:Cdc16 UTSW 8 13763915 splice site probably null
R5982:Cdc16 UTSW 8 13781399 missense possibly damaging 0.73
R6145:Cdc16 UTSW 8 13767573 missense possibly damaging 0.96
R6154:Cdc16 UTSW 8 13768609 missense possibly damaging 0.87
R6611:Cdc16 UTSW 8 13781512 missense probably benign
R6992:Cdc16 UTSW 8 13759188 missense probably benign 0.22
R7011:Cdc16 UTSW 8 13769451 missense probably damaging 1.00
R7484:Cdc16 UTSW 8 13777605 missense probably benign 0.01
R7593:Cdc16 UTSW 8 13777605 missense probably benign 0.01
Posted On2012-12-06