Incidental Mutation 'IGL01101:Cdc20'
ID50898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc20
Ensembl Gene ENSMUSG00000006398
Gene Namecell division cycle 20
Synonymsp55CDC, 2310042N09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01101
Quality Score
Status
Chromosome4
Chromosomal Location118432901-118437352 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118435552 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 333 (V333A)
Ref Sequence ENSEMBL: ENSMUSP00000006565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006557] [ENSMUST00000006565] [ENSMUST00000067896] [ENSMUST00000102673] [ENSMUST00000167636]
Predicted Effect probably benign
Transcript: ENSMUST00000006557
SMART Domains Protein: ENSMUSP00000006557
Gene: ENSMUSG00000006390

DomainStartEndE-ValueType
Pfam:ELO 23 263 3.1e-66 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000006565
AA Change: V333A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006565
Gene: ENSMUSG00000006398
AA Change: V333A

DomainStartEndE-ValueType
WD40 169 210 7.36e1 SMART
WD40 215 254 3.64e-2 SMART
WD40 257 294 9.6e-2 SMART
WD40 298 337 1.62e-8 SMART
WD40 344 386 8.29e-6 SMART
WD40 389 429 2.21e1 SMART
WD40 432 471 7.85e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000067896
SMART Domains Protein: ENSMUSP00000064816
Gene: ENSMUSG00000006390

DomainStartEndE-ValueType
Pfam:ELO 23 262 8.5e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102673
SMART Domains Protein: ENSMUSP00000099734
Gene: ENSMUSG00000006390

DomainStartEndE-ValueType
Pfam:ELO 2 186 5.8e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151302
Predicted Effect probably benign
Transcript: ENSMUST00000167636
SMART Domains Protein: ENSMUSP00000126685
Gene: ENSMUSG00000006390

DomainStartEndE-ValueType
Pfam:ELO 23 263 3.1e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183942
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene display embryonic lethality with cell cycle abnormalities. Mice heterozygous for a mutation in this gene display increased tumor incidence and increased incidence of aneuploidy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A T 7: 140,296,104 Q543L probably benign Het
Adamts20 T A 15: 94,344,042 D695V probably damaging Het
Ahnak T C 19: 9,012,887 probably benign Het
Akap4 T A X: 7,076,184 M242K probably benign Het
Cd207 T C 6: 83,675,857 D97G probably benign Het
Cdhr2 A G 13: 54,718,135 probably benign Het
Cfhr1 T A 1: 139,553,584 Y186F probably benign Het
Cnbd1 T A 4: 18,907,098 I159F probably benign Het
Cyp2j11 A C 4: 96,339,095 M228R probably benign Het
Dach1 C A 14: 97,840,204 S581I possibly damaging Het
Dbnl A G 11: 5,793,722 D71G possibly damaging Het
F8 T A X: 75,287,387 T966S possibly damaging Het
Filip1 T A 9: 79,898,246 L75F probably benign Het
Foxi2 A G 7: 135,412,007 Y322C probably benign Het
Ftsj3 A G 11: 106,255,632 V7A probably benign Het
Gm8362 A T 14: 6,767,109 S204T probably benign Het
Ibtk C A 9: 85,732,622 probably benign Het
Marf1 C T 16: 14,146,736 V267I possibly damaging Het
Mmp27 T A 9: 7,573,415 D169E probably damaging Het
Olfr1115 C A 2: 87,252,462 T175K probably damaging Het
Olfr1247 C T 2: 89,609,847 C85Y probably benign Het
Olfr728 A T 14: 50,140,054 M195K probably benign Het
P4ha2 G T 11: 54,119,305 C296F probably damaging Het
Slc38a5 T C X: 8,271,511 probably benign Het
Sorbs2 G T 8: 45,745,423 R36L possibly damaging Het
Tmem207 A C 16: 26,517,877 Y42* probably null Het
Vmn2r115 G A 17: 23,345,997 R286K probably benign Het
Other mutations in Cdc20
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0022:Cdc20 UTSW 4 118435489 missense probably damaging 1.00
R0022:Cdc20 UTSW 4 118435489 missense probably damaging 1.00
R1482:Cdc20 UTSW 4 118437056 missense probably benign 0.00
R1513:Cdc20 UTSW 4 118433107 missense probably damaging 1.00
R2107:Cdc20 UTSW 4 118433513 missense probably damaging 1.00
R2242:Cdc20 UTSW 4 118433525 missense probably benign 0.19
R4237:Cdc20 UTSW 4 118433060 missense probably damaging 0.99
R4238:Cdc20 UTSW 4 118433060 missense probably damaging 0.99
R4629:Cdc20 UTSW 4 118433564 missense probably damaging 1.00
R4793:Cdc20 UTSW 4 118437064 missense probably benign 0.28
R4897:Cdc20 UTSW 4 118435832 missense probably benign
R5279:Cdc20 UTSW 4 118433514 missense probably damaging 1.00
R5635:Cdc20 UTSW 4 118436027 missense possibly damaging 0.95
R5680:Cdc20 UTSW 4 118433067 missense probably damaging 1.00
R5715:Cdc20 UTSW 4 118434818 missense probably damaging 1.00
R5782:Cdc20 UTSW 4 118433042 missense probably benign 0.36
R6323:Cdc20 UTSW 4 118435564 missense probably damaging 1.00
R7761:Cdc20 UTSW 4 118435989 missense possibly damaging 0.74
R8317:Cdc20 UTSW 4 118437126 unclassified probably benign
Posted On2013-06-21