Incidental Mutation 'R5110:Cdc23'
ID 393830
Institutional Source Beutler Lab
Gene Symbol Cdc23
Ensembl Gene ENSMUSG00000024370
Gene Name CDC23 cell division cycle 23
Synonyms D18Ertd243e
MMRRC Submission 042698-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R5110 (G1)
Quality Score 163
Status Validated
Chromosome 18
Chromosomal Location 34764004-34784788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34784742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 7 (V7L)
Ref Sequence ENSEMBL: ENSMUSP00000122420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025228] [ENSMUST00000133181]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000025228
AA Change: V7L
SMART Domains Protein: ENSMUSP00000025228
Gene: ENSMUSG00000024370
AA Change: V7L

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 unknown
Transcript: ENSMUST00000133181
AA Change: V7L
SMART Domains Protein: ENSMUSP00000122420
Gene: ENSMUSG00000024370
AA Change: V7L

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
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 100% (61/61)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C A 9: 124,057,987 (GRCm39) probably null Het
2310016G11Rik G A 7: 44,327,286 (GRCm39) noncoding transcript Het
Abi2 G A 1: 60,489,280 (GRCm39) V98I probably benign Het
Adam21 T C 12: 81,606,989 (GRCm39) T258A probably benign Het
Adam33 A T 2: 130,895,690 (GRCm39) C542S probably damaging Het
Adamts15 A G 9: 30,832,740 (GRCm39) V265A probably benign Het
Ahnak A T 19: 8,992,123 (GRCm39) D4469V probably damaging Het
Aicda A G 6: 122,538,144 (GRCm39) N101D probably benign Het
Als2 A T 1: 59,224,600 (GRCm39) D1040E probably damaging Het
Car15 T C 16: 17,653,211 (GRCm39) R319G possibly damaging Het
Col1a1 T C 11: 94,832,419 (GRCm39) probably null Het
Col25a1 A G 3: 130,378,374 (GRCm39) *594W probably null Het
Cwf19l2 A G 9: 3,450,012 (GRCm39) probably null Het
Dctn4 C T 18: 60,679,387 (GRCm39) P236S probably damaging Het
Dennd2b A G 7: 109,141,697 (GRCm39) S556P probably benign Het
Ehmt1 C A 2: 24,742,802 (GRCm39) C459F probably benign Het
Enox1 T C 14: 77,945,127 (GRCm39) probably null Het
Fam136b-ps A G 15: 31,276,856 (GRCm39) probably benign Het
Fzd1 T C 5: 4,806,448 (GRCm39) D378G probably benign Het
Golga5 G A 12: 102,438,336 (GRCm39) R17Q probably benign Het
Hk1 A T 10: 62,122,430 (GRCm39) Y422N probably damaging Het
Hsf4 A G 8: 105,999,427 (GRCm39) D255G probably benign Het
Ift81 A G 5: 122,689,121 (GRCm39) V665A probably benign Het
Igkv13-84 T C 6: 68,916,592 (GRCm39) F3L probably benign Het
Kcnh1 T A 1: 192,020,055 (GRCm39) S433R possibly damaging Het
Ktn1 A G 14: 47,941,744 (GRCm39) probably benign Het
Lrp4 A T 2: 91,327,417 (GRCm39) D1471V possibly damaging Het
Macf1 A T 4: 123,261,801 (GRCm39) D6990E probably damaging Het
Map3k6 G A 4: 132,974,859 (GRCm39) probably benign Het
Miox T A 15: 89,219,759 (GRCm39) D82E probably benign Het
Or4n5 T G 14: 50,133,032 (GRCm39) I76L possibly damaging Het
Ovgp1 G C 3: 105,885,099 (GRCm39) R133P probably damaging Het
Per2 G A 1: 91,357,237 (GRCm39) T642I possibly damaging Het
Pparg T C 6: 115,449,964 (GRCm39) V321A probably damaging Het
Pptc7 T A 5: 122,446,312 (GRCm39) N17K probably benign Het
Prpf19 T C 19: 10,876,651 (GRCm39) probably benign Het
Rai14 T C 15: 10,690,496 (GRCm39) probably benign Het
Sardh T C 2: 27,079,559 (GRCm39) D911G probably benign Het
Sbf2 T A 7: 109,963,864 (GRCm39) T994S probably benign Het
Slc1a1 G A 19: 28,889,208 (GRCm39) E494K probably benign Het
Smarcc1 A G 9: 110,026,852 (GRCm39) K771E possibly damaging Het
Stim1 T C 7: 101,917,629 (GRCm39) V3A unknown Het
Syne3 G A 12: 104,909,629 (GRCm39) R736C probably benign Het
Synj2 T C 17: 6,087,990 (GRCm39) V986A probably benign Het
Tinag A G 9: 76,859,289 (GRCm39) S440P probably damaging Het
Tshz2 A G 2: 169,726,117 (GRCm39) T238A possibly damaging Het
Ttc8 T C 12: 98,908,562 (GRCm39) M17T probably benign Het
Tubgcp5 G A 7: 55,458,385 (GRCm39) R432Q probably damaging Het
Ugt1a10 T A 1: 87,983,974 (GRCm39) probably null Het
Usp4 T A 9: 108,239,877 (GRCm39) I202N probably damaging Het
Vmn1r194 T G 13: 22,429,170 (GRCm39) S262R probably benign Het
Vmn2r101 T C 17: 19,831,897 (GRCm39) F631S possibly damaging Het
Vps13b T A 15: 35,770,955 (GRCm39) S2133T probably damaging Het
Zfp13 C A 17: 23,799,834 (GRCm39) V77F probably benign Het
Zscan10 T A 17: 23,828,606 (GRCm39) C306S 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
IGL03086:Cdc23 APN 18 34,770,239 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGCCCTTACCTCTGTCAGAG -3'
(R):5'- TGCCAATCAGGATCTAACTGTCTC -3'

Sequencing Primer
(F):5'- TGCAGCTCCGACAAAGG -3'
(R):5'- AATCAGGATCTAACTGTCTCTTTTCC -3'
Posted On 2016-06-15