Incidental Mutation 'R6213:Cdkn1b'
ID 503557
Institutional Source Beutler Lab
Gene Symbol Cdkn1b
Ensembl Gene ENSMUSG00000003031
Gene Name cyclin dependent kinase inhibitor 1B
Synonyms p27Kip1, p27
MMRRC Submission 044346-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R6213 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 134897364-134902476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134898206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 108 (D108E)
Ref Sequence ENSEMBL: ENSMUSP00000145056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003115] [ENSMUST00000067327] [ENSMUST00000204807]
AlphaFold P46414
Predicted Effect probably benign
Transcript: ENSMUST00000003115
AA Change: D108E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000003115
Gene: ENSMUSG00000003031
AA Change: D108E

DomainStartEndE-ValueType
Pfam:CDI 30 80 8.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067327
AA Change: D108E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000065832
Gene: ENSMUSG00000003031
AA Change: D108E

DomainStartEndE-ValueType
Pfam:CDI 31 79 7.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204807
AA Change: D108E

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000145056
Gene: ENSMUSG00000003031
AA Change: D108E

DomainStartEndE-ValueType
Pfam:CDI 31 79 7.6e-25 PFAM
Meta Mutation Damage Score 0.0784 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous mutants have increased body weight, enlargement of major organs, impaired hearing and increased tumor susceptibility. Females are sterile, having impaired luteal cell differentiation and disrupted estrus cycle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,218,762 (GRCm39) Y207H probably damaging Het
Adcy7 G A 8: 89,040,765 (GRCm39) V335M probably damaging Het
Apol11b A C 15: 77,522,200 (GRCm39) D32E possibly damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cep290 A G 10: 100,359,222 (GRCm39) D984G probably benign Het
Csde1 T C 3: 102,947,830 (GRCm39) V128A probably damaging Het
Csmd3 A G 15: 47,492,656 (GRCm39) S3162P probably damaging Het
D5Ertd579e G A 5: 36,759,978 (GRCm39) T1394I probably damaging Het
Ddx6 T A 9: 44,539,990 (GRCm39) L306Q probably damaging Het
Dmxl1 T A 18: 49,996,082 (GRCm39) S403T possibly damaging Het
F11 G T 8: 45,694,537 (GRCm39) T608K probably damaging Het
Flrt3 C T 2: 140,503,085 (GRCm39) R181H probably damaging Het
Hs3st1 A T 5: 39,771,864 (GRCm39) C260S probably damaging Het
Ighv7-1 A T 12: 113,860,141 (GRCm39) S84T probably damaging Het
Inpp4b A G 8: 82,724,019 (GRCm39) D332G probably damaging Het
Irf2bpl T C 12: 86,930,367 (GRCm39) Q102R probably benign Het
Itpr3 T A 17: 27,330,174 (GRCm39) D1597E probably benign Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Lypd8 A G 11: 58,281,160 (GRCm39) T241A probably benign Het
Map1lc3a T C 2: 155,118,935 (GRCm39) probably null Het
Mast1 G A 8: 85,642,198 (GRCm39) T1052I probably damaging Het
Muc2 T C 7: 141,305,151 (GRCm39) C152R probably damaging Het
Muc5b A T 7: 141,415,903 (GRCm39) M2950L probably benign Het
Muc5b A G 7: 141,421,356 (GRCm39) D4282G possibly damaging Het
Myo16 G T 8: 10,420,963 (GRCm39) probably null Het
Myo9a T A 9: 59,734,541 (GRCm39) F708I probably damaging Het
Nadsyn1 A T 7: 143,353,549 (GRCm39) F558Y probably benign Het
Nat9 A T 11: 115,075,932 (GRCm39) W30R probably damaging Het
Nipbl A G 15: 8,364,390 (GRCm39) L1338S probably damaging Het
Nipsnap3b A G 4: 53,017,066 (GRCm39) T97A probably benign Het
Npepps A T 11: 97,132,823 (GRCm39) Y301* probably null Het
Nrcam C T 12: 44,609,215 (GRCm39) P447S possibly damaging Het
Or14c41 A G 7: 86,234,485 (GRCm39) M1V probably null Het
Or1o4 T C 17: 37,591,264 (GRCm39) S16G probably benign Het
Or2a14 A G 6: 43,130,821 (GRCm39) N194S possibly damaging Het
Or52b4 T C 7: 102,184,139 (GRCm39) Y62H probably damaging Het
Pacsin3 G T 2: 91,090,779 (GRCm39) V29F probably damaging Het
Pdzrn3 A C 6: 101,354,805 (GRCm39) D15E probably damaging Het
Phf20l1 T C 15: 66,504,752 (GRCm39) probably null Het
Pign A C 1: 105,516,991 (GRCm39) V545G possibly damaging Het
Pkhd1 T C 1: 20,593,994 (GRCm39) N1373S possibly damaging Het
Ptchd4 T A 17: 42,688,251 (GRCm39) H264Q probably benign Het
Ptpn3 G T 4: 57,265,012 (GRCm39) Q73K probably damaging Het
Ptrh1 G A 2: 32,666,757 (GRCm39) V109I probably benign Het
Reg1 A T 6: 78,404,386 (GRCm39) I87F possibly damaging Het
Rrp12 C A 19: 41,857,217 (GRCm39) V1186L probably benign Het
Sall1 AGTGGTGGTGGTGGTGGTGGTGG AGTGGTGGTGGTGGTGGTGG 8: 89,759,686 (GRCm39) probably benign Het
Slc23a3 A C 1: 75,108,392 (GRCm39) F279V probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Suds3 A G 5: 117,244,727 (GRCm39) L115P probably damaging Het
Tekt2 G A 4: 126,216,989 (GRCm39) A260V probably damaging Het
Tgfb3 T A 12: 86,104,621 (GRCm39) Y391F probably damaging Het
Topbp1 T C 9: 103,209,950 (GRCm39) S866P probably benign Het
Tspan14 A G 14: 40,635,372 (GRCm39) Y175H probably benign Het
Vars2 T C 17: 35,971,332 (GRCm39) T568A probably benign Het
Vmn1r216 T G 13: 23,283,339 (GRCm39) D7E probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zfp281 T C 1: 136,553,250 (GRCm39) V76A probably benign Het
Zfp36l2 T C 17: 84,493,980 (GRCm39) N219S probably damaging Het
Zfp626 T C 7: 27,507,717 (GRCm39) M42T probably benign Het
Zscan21 C T 5: 138,123,359 (GRCm39) P13S probably benign Het
Other mutations in Cdkn1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02052:Cdkn1b APN 6 134,897,970 (GRCm39) nonsense probably null
R1434:Cdkn1b UTSW 6 134,898,060 (GRCm39) missense probably damaging 1.00
R2005:Cdkn1b UTSW 6 134,898,919 (GRCm39) small insertion probably benign
R6518:Cdkn1b UTSW 6 134,898,283 (GRCm39) missense probably benign
R7409:Cdkn1b UTSW 6 134,898,280 (GRCm39) missense probably benign 0.45
R9487:Cdkn1b UTSW 6 134,897,815 (GRCm39) intron probably benign
R9711:Cdkn1b UTSW 6 134,898,058 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- AGAAGCACTGCCGGGATATG -3'
(R):5'- TCTAGTAAAGGGGCGCTTACG -3'

Sequencing Primer
(F):5'- CTGCCGGGATATGGAAGAAGC -3'
(R):5'- GCGCTTACGGAGACAGAC -3'
Posted On 2018-02-27