Incidental Mutation 'IGL01859:Cdc23'
ID178244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc23
Ensembl Gene ENSMUSG00000024370
Gene NameCDC23 cell division cycle 23
SynonymsD18Ertd243e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL01859
Quality Score
Status
Chromosome18
Chromosomal Location34630951-34651735 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 34651406 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 73 (P73Q)
Ref Sequence ENSEMBL: ENSMUSP00000122420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025228] [ENSMUST00000133181]
Predicted Effect probably benign
Transcript: ENSMUST00000025228
AA Change: P73Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000025228
Gene: ENSMUSG00000024370
AA Change: P73Q

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: ENSMUST00000082923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133162
Predicted Effect probably benign
Transcript: ENSMUST00000133181
AA Change: P73Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000122420
Gene: ENSMUSG00000024370
AA Change: P73Q

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: ENSMUST00000135208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151409
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 104,086,137 probably benign Het
Ak7 A G 12: 105,745,297 M398V probably null Het
Angptl3 C T 4: 99,037,432 R332* probably null Het
Ano7 A G 1: 93,394,446 Y392C probably damaging Het
Arpc1b T C 5: 145,123,730 F18L probably damaging Het
Cdkl1 A C 12: 69,760,129 L111R probably damaging Het
Cntnap2 A G 6: 46,988,721 D822G probably damaging Het
Col6a5 G A 9: 105,930,961 R963* probably null Het
Crocc T C 4: 141,029,290 D1008G probably benign Het
Dntt G T 19: 41,037,304 M120I probably benign Het
Dock1 A G 7: 135,077,161 Y1003C possibly damaging Het
Fam178b T A 1: 36,659,365 R92W probably damaging Het
Fermt2 A G 14: 45,459,956 V646A possibly damaging Het
Foxc1 T C 13: 31,808,723 S506P unknown Het
Gm11127 A T 17: 36,058,011 M59K possibly damaging Het
Gtpbp1 T A 15: 79,719,140 V610E probably benign Het
Hsdl2 T C 4: 59,601,569 probably null Het
Itgb8 T A 12: 119,189,945 R278S probably damaging Het
Kcnh7 T A 2: 62,721,788 D953V probably benign Het
Med13 A T 11: 86,283,751 D1749E possibly damaging Het
Mocos G T 18: 24,666,660 probably benign Het
Pcdhb20 T G 18: 37,504,563 N47K probably damaging Het
Phf21a T A 2: 92,328,356 F227L probably damaging Het
Piezo2 T C 18: 63,092,844 E907G probably benign Het
Pla2g4e G T 2: 120,182,733 Q369K possibly damaging Het
Ppp3cb A G 14: 20,509,449 I413T probably damaging Het
Ptgis A G 2: 167,214,806 probably null Het
Rasgrp1 A G 2: 117,289,418 V452A probably benign Het
Rbms3 T A 9: 116,959,538 D105V probably damaging Het
Rnase1 C A 14: 51,145,803 Q31H probably benign Het
Rnase13 G T 14: 51,922,303 N126K probably damaging Het
Sema5b G T 16: 35,647,109 V248L possibly damaging Het
Serpinb12 G A 1: 106,953,834 probably null Het
Slc4a11 A T 2: 130,684,994 L738Q probably damaging Het
Spta1 A T 1: 174,174,372 I23F probably damaging Het
Stk-ps2 A T 1: 46,030,042 noncoding transcript Het
Tcp1 A G 17: 12,922,684 E350G possibly damaging Het
Tonsl T C 15: 76,634,780 K518E probably damaging Het
Trim34a A G 7: 104,260,942 E317G probably damaging Het
Trit1 A G 4: 123,049,551 S335G probably benign Het
Usp28 G T 9: 49,024,021 E91* probably null Het
Vmn2r56 A G 7: 12,716,005 L102P probably damaging Het
Wwtr1 A C 3: 57,477,517 L203R possibly damaging Het
Zfp110 T C 7: 12,849,540 V705A possibly damaging Het
Zfp955a T C 17: 33,243,719 N67S probably benign Het
Other mutations in Cdc23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01140:Cdc23 APN 18 34636332 missense probably benign 0.01
IGL01302:Cdc23 APN 18 34634644 missense probably benign 0.19
IGL02307:Cdc23 APN 18 34641389 missense possibly damaging 0.71
IGL03081:Cdc23 APN 18 34636704 missense probably damaging 1.00
IGL03086:Cdc23 APN 18 34637186 unclassified probably benign
IGL03089:Cdc23 APN 18 34634460 missense probably damaging 1.00
IGL03249:Cdc23 APN 18 34644016 splice site probably benign
R0217:Cdc23 UTSW 18 34651665 missense unknown
R0790:Cdc23 UTSW 18 34651613 missense possibly damaging 0.94
R1593:Cdc23 UTSW 18 34636326 missense possibly damaging 0.88
R2929:Cdc23 UTSW 18 34637318 frame shift probably null
R2930:Cdc23 UTSW 18 34637318 frame shift probably null
R3963:Cdc23 UTSW 18 34646919 missense probably benign 0.01
R3983:Cdc23 UTSW 18 34637486 unclassified probably benign
R4245:Cdc23 UTSW 18 34637047 unclassified probably benign
R4415:Cdc23 UTSW 18 34637318 frame shift probably null
R4417:Cdc23 UTSW 18 34637318 frame shift probably null
R4992:Cdc23 UTSW 18 34646919 missense probably benign
R5037:Cdc23 UTSW 18 34651689 missense unknown
R5071:Cdc23 UTSW 18 34651689 missense unknown
R5072:Cdc23 UTSW 18 34651689 missense unknown
R5073:Cdc23 UTSW 18 34651689 missense unknown
R5074:Cdc23 UTSW 18 34651689 missense unknown
R5081:Cdc23 UTSW 18 34651689 missense unknown
R5082:Cdc23 UTSW 18 34651689 missense unknown
R5083:Cdc23 UTSW 18 34651689 missense unknown
R5110:Cdc23 UTSW 18 34651689 missense unknown
R5111:Cdc23 UTSW 18 34651689 missense unknown
R5122:Cdc23 UTSW 18 34651689 missense unknown
R5131:Cdc23 UTSW 18 34651689 missense unknown
R5132:Cdc23 UTSW 18 34651689 missense unknown
R5166:Cdc23 UTSW 18 34651689 missense unknown
R7186:Cdc23 UTSW 18 34637122 missense probably damaging 1.00
R7359:Cdc23 UTSW 18 34641341 missense probably benign 0.40
R7732:Cdc23 UTSW 18 34636702 critical splice donor site probably null
R7832:Cdc23 UTSW 18 34647019 missense probably benign 0.11
R7915:Cdc23 UTSW 18 34647019 missense probably benign 0.11
R8031:Cdc23 UTSW 18 34651688 missense unknown
Posted On2014-05-07