Incidental Mutation 'IGL00485:Cdkn1a'
ID 277631
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdkn1a
Ensembl Gene ENSMUSG00000023067
Gene Name cyclin dependent kinase inhibitor 1A
Synonyms P21, CIP1, SDI1, p21, CAP20, mda6, p21Cip1, Cdkn1, CDKI, Waf1, p21WAF
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00485
Quality Score
Status
Chromosome 17
Chromosomal Location 29309953-29319696 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 29317494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 38 (A38E)
Ref Sequence ENSEMBL: ENSMUSP00000112411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023829] [ENSMUST00000119901] [ENSMUST00000122348]
AlphaFold P39689
Predicted Effect possibly damaging
Transcript: ENSMUST00000023829
AA Change: A38E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023829
Gene: ENSMUSG00000023067
AA Change: A38E

DomainStartEndE-ValueType
Pfam:CDI 19 67 8.1e-23 PFAM
PDB:2ZVW|P 134 154 8e-6 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000119901
AA Change: A38E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113150
Gene: ENSMUSG00000023067
AA Change: A38E

DomainStartEndE-ValueType
Pfam:CDI 18 68 6.9e-24 PFAM
PDB:2ZVW|P 134 154 8e-6 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000122348
AA Change: A38E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112411
Gene: ENSMUSG00000023067
AA Change: A38E

DomainStartEndE-ValueType
Pfam:CDI 18 68 6.9e-24 PFAM
PDB:2ZVW|P 134 154 8e-6 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at the G1 pahse. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for knock-out alleles exhibit increased spontaneous tumorigenesis, altered resistance to induced tumors, abnormal immune system morphology and physiology, delayed cellular senescence, abnormal response to xenobiotics and injury, and autoimmunity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,383,497 (GRCm39) probably benign Het
Arhgef37 G A 18: 61,656,942 (GRCm39) T41I probably damaging Het
Brms1 A C 19: 5,099,070 (GRCm39) probably benign Het
Col4a2 A G 8: 11,489,012 (GRCm39) M1133V probably benign Het
Ctps1 T C 4: 120,410,141 (GRCm39) Y314C probably damaging Het
Defa30 T A 8: 21,625,467 (GRCm39) M77K probably benign Het
Eif3a T C 19: 60,758,328 (GRCm39) R817G unknown Het
Entrep1 G A 19: 23,962,086 (GRCm39) R306W probably damaging Het
Ftdc2 A G 16: 58,455,854 (GRCm39) Y140H probably damaging Het
Greb1l A G 18: 10,555,962 (GRCm39) S1725G possibly damaging Het
Hmgxb4 T C 8: 75,756,131 (GRCm39) S545P probably damaging Het
Hrob C T 11: 102,146,783 (GRCm39) S353F possibly damaging Het
Kif13b A G 14: 65,002,522 (GRCm39) E1049G possibly damaging Het
Mug1 T C 6: 121,864,375 (GRCm39) V1424A probably benign Het
Nlrp2 A G 7: 5,340,547 (GRCm39) V89A probably benign Het
Osbpl11 T G 16: 33,062,115 (GRCm39) W741G probably damaging Het
Pam A G 1: 97,750,678 (GRCm39) V914A possibly damaging Het
Phldb2 T A 16: 45,577,551 (GRCm39) I1117F possibly damaging Het
Pign A T 1: 105,525,448 (GRCm39) L460* probably null Het
Pramel31 G A 4: 144,090,012 (GRCm39) V351I probably damaging Het
Prdm10 A T 9: 31,238,842 (GRCm39) I196F possibly damaging Het
Stk36 T C 1: 74,673,244 (GRCm39) S1044P probably benign Het
Trim43b T C 9: 88,973,695 (GRCm39) T13A probably benign Het
Unc5b T C 10: 60,618,995 (GRCm39) Y49C possibly damaging Het
Urb2 T C 8: 124,755,433 (GRCm39) I380T probably damaging Het
Zfyve27 T A 19: 42,171,872 (GRCm39) C229S probably benign Het
Other mutations in Cdkn1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Cdkn1a APN 17 29,317,494 (GRCm39) missense possibly damaging 0.83
IGL00516:Cdkn1a APN 17 29,317,494 (GRCm39) missense possibly damaging 0.83
IGL02409:Cdkn1a APN 17 29,317,428 (GRCm39) missense probably benign
R1812:Cdkn1a UTSW 17 29,317,539 (GRCm39) missense probably benign
R6076:Cdkn1a UTSW 17 29,318,332 (GRCm39) missense probably damaging 1.00
R7504:Cdkn1a UTSW 17 29,317,488 (GRCm39) missense probably damaging 1.00
R8035:Cdkn1a UTSW 17 29,318,350 (GRCm39) missense possibly damaging 0.49
Posted On 2015-04-16