Incidental Mutation 'IGL01683:Cdk2ap1'
ID103873
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk2ap1
Ensembl Gene ENSMUSG00000029394
Gene NameCDK2 (cyclin-dependent kinase 2)-associated protein 1
SynonymsDORC1, p12, Doc1, ST19
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01683
Quality Score
Status
Chromosome5
Chromosomal Location124345417-124363082 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 124350179 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031341] [ENSMUST00000111472] [ENSMUST00000111473] [ENSMUST00000111474] [ENSMUST00000196910]
Predicted Effect probably benign
Transcript: ENSMUST00000031341
SMART Domains Protein: ENSMUSP00000031341
Gene: ENSMUSG00000029394

DomainStartEndE-ValueType
Pfam:CDK2AP 3 113 1.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111472
SMART Domains Protein: ENSMUSP00000107097
Gene: ENSMUSG00000029394

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111473
SMART Domains Protein: ENSMUSP00000107098
Gene: ENSMUSG00000029394

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111474
SMART Domains Protein: ENSMUSP00000107099
Gene: ENSMUSG00000029394

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196910
SMART Domains Protein: ENSMUSP00000143268
Gene: ENSMUSG00000029394

DomainStartEndE-ValueType
Pfam:CDK2AP 1 87 9.5e-40 PFAM
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 is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mic homozygous for a knock-out allele die between E3.5 and E5.5 with rare survivors exhibiting craniofacial defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,396,424 L188Q probably damaging Het
Abcc8 T A 7: 46,151,667 I446F possibly damaging Het
Ankrd34c T C 9: 89,729,797 T164A probably benign Het
Bsn C A 9: 108,114,896 R1219L possibly damaging Het
Ces2f T C 8: 104,953,101 F409L probably benign Het
Clcc1 G A 3: 108,676,796 A499T probably benign Het
Foxm1 T G 6: 128,373,488 I584S probably benign Het
Ftcd T C 10: 76,580,129 I199T probably damaging Het
Gjb6 C A 14: 57,124,358 A149S probably benign Het
H2-M2 A T 17: 37,481,515 H288Q possibly damaging Het
Os9 A G 10: 127,100,103 Y258H probably damaging Het
Phldb3 T C 7: 24,619,437 F337S possibly damaging Het
Pla2g4a T G 1: 149,857,654 Y448S probably benign Het
Sgk3 T A 1: 9,881,866 V239D probably damaging Het
Ssfa2 T C 2: 79,670,725 probably benign Het
Tek T C 4: 94,858,911 Y903H probably damaging Het
Tenm4 C A 7: 96,885,404 H1752Q possibly damaging Het
Tns1 C T 1: 73,953,269 R750Q probably damaging Het
Tubb2a A T 13: 34,076,547 probably null Het
Zfp106 T C 2: 120,524,555 N1245S probably benign Het
Other mutations in Cdk2ap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01979:Cdk2ap1 APN 5 124348709 missense probably damaging 1.00
IGL03240:Cdk2ap1 APN 5 124346144 missense probably damaging 1.00
IGL03047:Cdk2ap1 UTSW 5 124348690 missense possibly damaging 0.54
R2159:Cdk2ap1 UTSW 5 124348604 nonsense probably null
R7144:Cdk2ap1 UTSW 5 124354358 missense probably damaging 0.99
V1662:Cdk2ap1 UTSW 5 124348676 missense possibly damaging 0.86
Posted On2014-01-21