Incidental Mutation 'IGL00495:Cdkn1a'
ID277667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdkn1a
Ensembl Gene ENSMUSG00000023067
Gene Namecyclin-dependent kinase inhibitor 1A (P21)
SynonymsSDI1, P21, Waf1, p21Cip1, CIP1, CAP20, mda6, p21, Cdkn1, p21WAF, CDKI
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00495
Quality Score
Status
Chromosome17
Chromosomal Location29090979-29100722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 29098520 bp
ZygosityHeterozygous
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]
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,415,843 T679A probably benign Het
Bhlhe40 T A 6: 108,661,178 M33K probably benign Het
Cacna2d1 T C 5: 16,370,609 S1059P probably benign Het
Chrm2 A T 6: 36,523,420 I71F possibly damaging Het
Cntnap5c A G 17: 58,162,277 Q618R probably benign Het
Cog5 T A 12: 31,837,309 N476K probably benign Het
Dhx36 G A 3: 62,470,558 probably benign Het
Dnajb8 G T 6: 88,222,854 R124L possibly damaging Het
Dnajc16 A T 4: 141,763,563 probably null Het
Dzip1 T C 14: 118,883,394 D717G probably benign Het
Eps15 G T 4: 109,309,149 V80L probably damaging Het
Fmn1 G A 2: 113,444,467 probably benign Het
Gm12185 A G 11: 48,907,861 S602P probably damaging Het
Gm28539 T G 16: 18,954,780 probably benign Het
Grm3 T C 5: 9,512,290 N520S probably benign Het
Hivep2 A G 10: 14,142,244 N1825S probably damaging Het
Igfbp2 A G 1: 72,849,128 H143R probably benign Het
Igsf8 T G 1: 172,317,544 V146G possibly damaging Het
Kif13b T G 14: 64,714,113 S68A probably benign Het
Lrrc15 T A 16: 30,274,030 I164F possibly damaging Het
Mrrf G A 2: 36,141,631 R53H possibly damaging Het
Ms4a6d G A 19: 11,601,885 T76I probably damaging Het
Pkd1l1 T C 11: 8,868,493 R1332G probably benign Het
Plekha1 A G 7: 130,877,839 Y29C probably damaging Het
Pnliprp1 A T 19: 58,734,730 H221L probably damaging Het
Pomt2 T C 12: 87,124,856 D380G probably damaging Het
Ppm1f C A 16: 16,910,971 T79N possibly damaging Het
Ppp4r3b A C 11: 29,211,782 T719P possibly damaging Het
Socs4 G A 14: 47,290,252 V215I probably benign Het
Spg11 A G 2: 122,094,456 probably null Het
Stk31 T A 6: 49,437,443 C459S probably benign Het
Ttn A G 2: 76,709,202 V26153A possibly damaging Het
Twf1 C T 15: 94,580,936 probably benign Het
Vrk3 A T 7: 44,769,647 K383M probably damaging Het
Wdr83 A T 8: 85,079,814 N118K probably damaging Het
Other mutations in Cdkn1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Cdkn1a APN 17 29098520 missense possibly damaging 0.83
IGL00516:Cdkn1a APN 17 29098520 missense possibly damaging 0.83
IGL02409:Cdkn1a APN 17 29098454 missense probably benign
R1812:Cdkn1a UTSW 17 29098565 missense probably benign
R6076:Cdkn1a UTSW 17 29099358 missense probably damaging 1.00
R7504:Cdkn1a UTSW 17 29098514 missense probably damaging 1.00
R8035:Cdkn1a UTSW 17 29099376 missense possibly damaging 0.49
Posted On2015-04-16