Incidental Mutation 'IGL02409:Cdkn1a'
ID 292218
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 # IGL02409
Quality Score
Status
Chromosome 17
Chromosomal Location 29309953-29319696 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29317428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 16 (V16A)
Ref Sequence ENSEMBL: ENSMUSP00000112411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023829] [ENSMUST00000119901] [ENSMUST00000122348]
AlphaFold P39689
Predicted Effect probably benign
Transcript: ENSMUST00000023829
AA Change: V16A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023829
Gene: ENSMUSG00000023067
AA Change: V16A

DomainStartEndE-ValueType
Pfam:CDI 19 67 8.1e-23 PFAM
PDB:2ZVW|P 134 154 8e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000119901
AA Change: V16A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113150
Gene: ENSMUSG00000023067
AA Change: V16A

DomainStartEndE-ValueType
Pfam:CDI 18 68 6.9e-24 PFAM
PDB:2ZVW|P 134 154 8e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000122348
AA Change: V16A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112411
Gene: ENSMUSG00000023067
AA Change: V16A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp4 T A 18: 15,532,782 (GRCm39) M104L probably benign Het
Celsr2 C A 3: 108,321,271 (GRCm39) V514F probably damaging Het
Cmklr2 T A 1: 63,222,875 (GRCm39) N120I probably damaging Het
Cmya5 T C 13: 93,226,706 (GRCm39) N2794S probably damaging Het
Dnmt1 T C 9: 20,837,793 (GRCm39) T281A probably benign Het
Dock2 A T 11: 34,451,204 (GRCm39) N840K probably benign Het
Dscam T C 16: 96,621,088 (GRCm39) N540S possibly damaging Het
Elavl1 A T 8: 4,339,838 (GRCm39) I248N possibly damaging Het
Fam120a A G 13: 49,120,835 (GRCm39) V157A probably benign Het
Fcrl2 G A 3: 87,160,030 (GRCm39) P408L probably benign Het
Grin2b T A 6: 136,020,906 (GRCm39) M132L possibly damaging Het
Herc2 T A 7: 55,870,217 (GRCm39) probably null Het
Lrp1b T G 2: 41,335,208 (GRCm39) K778T possibly damaging Het
Mapk10 T A 5: 103,076,096 (GRCm39) E389D possibly damaging Het
Ms4a7 G T 19: 11,301,807 (GRCm39) Y62* probably null Het
Muc5b A G 7: 141,415,075 (GRCm39) T2674A possibly damaging Het
Nbeal1 T C 1: 60,368,494 (GRCm39) L2613P probably benign Het
Ncapg2 A T 12: 116,384,337 (GRCm39) Y266F probably damaging Het
Or10a3m A G 7: 108,313,366 (GRCm39) I269V probably benign Het
Or14j6 T C 17: 38,214,679 (GRCm39) Y81H probably damaging Het
Or1j14 T A 2: 36,418,165 (GRCm39) V247E probably damaging Het
Or4c110 C T 2: 88,832,254 (GRCm39) C126Y possibly damaging Het
Pkd1 T A 17: 24,792,597 (GRCm39) I1428N probably benign Het
Ppil4 T C 10: 7,674,328 (GRCm39) probably benign Het
Rev3l T C 10: 39,697,144 (GRCm39) V547A possibly damaging Het
Rgsl1 T C 1: 153,701,989 (GRCm39) K155R possibly damaging Het
Skap2 T C 6: 51,884,938 (GRCm39) D234G possibly damaging Het
Sult2a4 C T 7: 13,718,844 (GRCm39) W133* probably null Het
Tbc1d2b C T 9: 90,104,405 (GRCm39) S579N probably benign Het
Tdrkh T A 3: 94,337,919 (GRCm39) probably benign Het
Thumpd2 A T 17: 81,340,117 (GRCm39) F377L probably damaging Het
Tmem132d T C 5: 127,861,952 (GRCm39) D723G probably damaging Het
Tnfrsf23 A T 7: 143,222,308 (GRCm39) L168Q probably damaging Het
Ttn T C 2: 76,784,974 (GRCm39) T818A unknown Het
Uox A T 3: 146,330,381 (GRCm39) D130V probably benign Het
Vmn2r45 T C 7: 8,488,727 (GRCm39) Y101C probably benign Het
Wdr1 C T 5: 38,688,453 (GRCm39) D161N 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
IGL00516:Cdkn1a APN 17 29,317,494 (GRCm39) missense possibly damaging 0.83
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