Incidental Mutation 'IGL00516:Cdkn1a'
ID 277710
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 # IGL00516
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T C 11: 80,267,638 (GRCm39) D91G possibly damaging Het
Abcc1 T A 16: 14,231,176 (GRCm39) L438* probably null Het
Asph A T 4: 9,639,322 (GRCm39) N14K probably damaging Het
Baz1b T C 5: 135,245,444 (GRCm39) Y298H probably damaging Het
Ccdc66 A T 14: 27,220,413 (GRCm39) W267R probably damaging Het
Cd81 A C 7: 142,620,901 (GRCm39) K193N probably damaging Het
Cflar T C 1: 58,771,469 (GRCm39) I199T probably benign Het
Cmya5 A G 13: 93,234,675 (GRCm39) S138P possibly damaging Het
Cnot1 T C 8: 96,452,707 (GRCm39) N2123S probably damaging Het
Crybg3 A G 16: 59,350,803 (GRCm39) S846P probably benign Het
Cyp2d9 A G 15: 82,339,295 (GRCm39) I21M probably benign Het
Ddx41 T C 13: 55,680,280 (GRCm39) T371A probably damaging Het
Dnhd1 A T 7: 105,306,418 (GRCm39) I425F possibly damaging Het
Dsc1 T C 18: 20,234,943 (GRCm39) D237G probably damaging Het
Emc1 T C 4: 139,082,393 (GRCm39) probably benign Het
Epc1 T A 18: 6,450,515 (GRCm39) D367V probably damaging Het
Glp1r A G 17: 31,144,532 (GRCm39) Y235C probably damaging Het
Helb A G 10: 119,941,329 (GRCm39) V453A probably damaging Het
Hras A G 7: 140,772,783 (GRCm39) I24T possibly damaging Het
Hsf2 A T 10: 57,388,124 (GRCm39) I423L probably benign Het
Igkv2-109 T A 6: 68,280,054 (GRCm39) S92T probably benign Het
Kiss1r G A 10: 79,754,550 (GRCm39) A15T possibly damaging Het
Krt79 T C 15: 101,848,601 (GRCm39) S17G probably damaging Het
Lrrc14b T C 13: 74,509,078 (GRCm39) D443G probably damaging Het
Map4k4 T A 1: 40,053,762 (GRCm39) V953E probably damaging Het
Mybpc2 G A 7: 44,154,829 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,530 (GRCm39) E173G probably damaging Het
Neurl4 C T 11: 69,801,219 (GRCm39) R1199W probably damaging Het
Otog T A 7: 45,900,706 (GRCm39) V333E probably damaging Het
Pdcd2l A T 7: 33,884,246 (GRCm39) probably null Het
Plagl1 A G 10: 13,003,616 (GRCm39) probably benign Het
Rbm34 T C 8: 127,696,736 (GRCm39) N122S probably benign Het
Shank2 A G 7: 143,964,512 (GRCm39) K917E possibly damaging Het
Slc17a8 T C 10: 89,427,157 (GRCm39) K315E possibly damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Sytl2 A G 7: 90,022,113 (GRCm39) T183A probably benign Het
Tnik T A 3: 28,708,367 (GRCm39) I1067N probably damaging Het
Tpd52l2 A G 2: 181,154,861 (GRCm39) D192G probably damaging Het
Trhde A T 10: 114,282,104 (GRCm39) I791N probably benign Het
Ttc28 A T 5: 111,373,554 (GRCm39) N966Y probably damaging Het
Vps13b A T 15: 35,640,703 (GRCm39) D1356V probably damaging Het
Zmym2 A G 14: 57,185,394 (GRCm39) probably benign Het
Other mutations in Cdkn1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Cdkn1a APN 17 29,317,494 (GRCm39) missense possibly damaging 0.83
IGL00495: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