Incidental Mutation 'IGL03086:Cdc23'
ID 418120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc23
Ensembl Gene ENSMUSG00000024370
Gene Name CDC23 cell division cycle 23
Synonyms D18Ertd243e
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # IGL03086
Quality Score
Status
Chromosome 18
Chromosomal Location 34764004-34784788 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 34770239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025228] [ENSMUST00000133181] [ENSMUST00000167161] [ENSMUST00000166044]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025228
SMART Domains Protein: ENSMUSP00000025228
Gene: ENSMUSG00000024370

DomainStartEndE-ValueType
Pfam:APC8 22 152 1.9e-42 PFAM
Blast:TPR 175 202 4e-10 BLAST
TPR 263 296 4.21e1 SMART
TPR 331 364 1.74e-4 SMART
TPR 365 398 1.83e-3 SMART
TPR 399 432 1.37e-2 SMART
TPR 433 466 8.97e0 SMART
TPR 510 543 1.82e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133162
Predicted Effect probably benign
Transcript: ENSMUST00000133181
SMART Domains Protein: ENSMUSP00000122420
Gene: ENSMUSG00000024370

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Pfam:ANAPC8 28 151 6.9e-31 PFAM
Blast:TPR 175 202 4e-10 BLAST
TPR 263 296 4.21e1 SMART
TPR 331 364 1.74e-4 SMART
TPR 365 398 1.83e-3 SMART
TPR 399 432 1.37e-2 SMART
TPR 433 466 8.97e0 SMART
TPR 510 543 1.82e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155307
Predicted Effect probably benign
Transcript: ENSMUST00000167161
SMART Domains Protein: ENSMUSP00000130045
Gene: ENSMUSG00000003779

DomainStartEndE-ValueType
KISc 61 514 3.95e-141 SMART
coiled coil region 559 760 N/A INTRINSIC
low complexity region 831 842 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166044
SMART Domains Protein: ENSMUSP00000132659
Gene: ENSMUSG00000003779

DomainStartEndE-ValueType
KISc 61 514 3.95e-141 SMART
coiled coil region 559 760 N/A INTRINSIC
low complexity region 831 842 N/A INTRINSIC
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 shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A G 1: 72,682,437 (GRCm39) I1158T possibly damaging Het
Ankrd11 A G 8: 123,621,249 (GRCm39) S868P probably damaging Het
Atad3a C T 4: 155,833,127 (GRCm39) probably null Het
Cadm4 A T 7: 24,200,240 (GRCm39) N250Y probably damaging Het
Cd300c2 T C 11: 114,891,649 (GRCm39) E75G possibly damaging Het
Cep97 A G 16: 55,735,659 (GRCm39) S380P probably benign Het
Ckap5 T A 2: 91,400,621 (GRCm39) probably benign Het
Col6a4 A T 9: 105,960,061 (GRCm39) probably benign Het
Dclk1 G A 3: 55,154,788 (GRCm39) V73M probably damaging Het
Dnah8 T C 17: 30,961,754 (GRCm39) L2297P probably damaging Het
Eif2a A G 3: 58,448,538 (GRCm39) I124V probably benign Het
Fam227b A T 2: 125,960,951 (GRCm39) I226K probably benign Het
Fcgr1 G T 3: 96,191,814 (GRCm39) Y331* probably null Het
Helq T C 5: 100,944,793 (GRCm39) T106A possibly damaging Het
Ly9 A T 1: 171,432,738 (GRCm39) Y92N probably benign Het
Myom1 G A 17: 71,415,666 (GRCm39) C1256Y probably damaging Het
Ndc80 G A 17: 71,827,920 (GRCm39) T104I probably benign Het
Or1x2 T A 11: 50,918,557 (GRCm39) C243S probably damaging Het
Or2y1d A G 11: 49,321,632 (GRCm39) T110A probably benign Het
Or51a8 T C 7: 102,549,613 (GRCm39) F13S probably damaging Het
Or5e1 A T 7: 108,355,003 (GRCm39) probably benign Het
Phtf2 T C 5: 20,969,273 (GRCm39) N679S probably damaging Het
Polq G A 16: 36,911,411 (GRCm39) R2382K probably benign Het
Recql4 C T 15: 76,590,468 (GRCm39) R672Q probably benign Het
Selenbp2 A G 3: 94,606,945 (GRCm39) N197S probably damaging Het
Sirpb1a C A 3: 15,491,388 (GRCm39) probably null Het
Slc12a2 T A 18: 58,054,856 (GRCm39) D832E probably benign Het
Slc13a1 G A 6: 24,118,002 (GRCm39) A245V probably damaging Het
Unc80 A G 1: 66,548,633 (GRCm39) D635G probably damaging Het
Utp18 T C 11: 93,766,882 (GRCm39) Q275R probably damaging Het
Wdr35 A G 12: 9,058,692 (GRCm39) probably null Het
Zfyve26 A G 12: 79,342,338 (GRCm39) V36A probably damaging Het
Other mutations in Cdc23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Cdc23 APN 18 34,769,385 (GRCm39) missense probably benign 0.01
IGL01302:Cdc23 APN 18 34,767,697 (GRCm39) missense probably benign 0.19
IGL01859:Cdc23 APN 18 34,784,459 (GRCm39) missense probably benign 0.01
IGL02307:Cdc23 APN 18 34,774,442 (GRCm39) missense possibly damaging 0.71
IGL03081:Cdc23 APN 18 34,769,757 (GRCm39) missense probably damaging 1.00
IGL03089:Cdc23 APN 18 34,767,513 (GRCm39) missense probably damaging 1.00
IGL03249:Cdc23 APN 18 34,777,069 (GRCm39) splice site probably benign
R0217:Cdc23 UTSW 18 34,784,718 (GRCm39) missense unknown
R0790:Cdc23 UTSW 18 34,784,666 (GRCm39) missense possibly damaging 0.94
R1593:Cdc23 UTSW 18 34,769,379 (GRCm39) missense possibly damaging 0.88
R2929:Cdc23 UTSW 18 34,770,371 (GRCm39) frame shift probably null
R2930:Cdc23 UTSW 18 34,770,371 (GRCm39) frame shift probably null
R3963:Cdc23 UTSW 18 34,779,972 (GRCm39) missense probably benign 0.01
R3983:Cdc23 UTSW 18 34,770,539 (GRCm39) unclassified probably benign
R4245:Cdc23 UTSW 18 34,770,100 (GRCm39) unclassified probably benign
R4415:Cdc23 UTSW 18 34,770,371 (GRCm39) frame shift probably null
R4417:Cdc23 UTSW 18 34,770,371 (GRCm39) frame shift probably null
R4992:Cdc23 UTSW 18 34,779,972 (GRCm39) missense probably benign
R5037:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5071:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5072:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5073:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5074:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5081:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5082:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5083:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5110:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5111:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5122:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5131:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5132:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R5166:Cdc23 UTSW 18 34,784,742 (GRCm39) missense unknown
R7186:Cdc23 UTSW 18 34,770,175 (GRCm39) missense probably damaging 1.00
R7359:Cdc23 UTSW 18 34,774,394 (GRCm39) missense probably benign 0.40
R7732:Cdc23 UTSW 18 34,769,755 (GRCm39) critical splice donor site probably null
R7832:Cdc23 UTSW 18 34,780,072 (GRCm39) missense probably benign 0.11
R8031:Cdc23 UTSW 18 34,784,741 (GRCm39) missense unknown
R8185:Cdc23 UTSW 18 34,774,197 (GRCm39) missense probably benign 0.00
R8345:Cdc23 UTSW 18 34,767,150 (GRCm39) missense probably benign 0.17
R8716:Cdc23 UTSW 18 34,784,735 (GRCm39) frame shift probably null
Posted On 2016-08-02