Incidental Mutation 'R3617:Cdkn1c'
ID 268479
Institutional Source Beutler Lab
Gene Symbol Cdkn1c
Ensembl Gene ENSMUSG00000037664
Gene Name cyclin dependent kinase inhibitor 1C
Synonyms Kip2, CDKI, p57Kip2
MMRRC Submission 040674-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.806) question?
Stock # R3617 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 143012076-143014735 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) C to T at 143013531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037287] [ENSMUST00000167912] [ENSMUST00000207910] [ENSMUST00000207910]
AlphaFold P49919
Predicted Effect probably benign
Transcript: ENSMUST00000037287
SMART Domains Protein: ENSMUSP00000037302
Gene: ENSMUSG00000037664

DomainStartEndE-ValueType
Pfam:CDI 20 72 5.7e-20 PFAM
low complexity region 95 107 N/A INTRINSIC
low complexity region 120 147 N/A INTRINSIC
low complexity region 219 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167912
SMART Domains Protein: ENSMUSP00000128828
Gene: ENSMUSG00000037664

DomainStartEndE-ValueType
Pfam:CDI 34 84 1.6e-16 PFAM
low complexity region 108 120 N/A INTRINSIC
low complexity region 133 160 N/A INTRINSIC
low complexity region 232 263 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207910
Predicted Effect probably benign
Transcript: ENSMUST00000207910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208118
Predicted Effect unknown
Transcript: ENSMUST00000208137
AA Change: G123D
Meta Mutation Damage Score 0.0871 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (41/42)
MGI Phenotype PHENOTYPE: Homozygous mutants or heterozygotes with a mutant maternal allele have developmental defects including cleft palate, gastrointestinal defects and short limbs. Most mutants die at birth; survivors are growth retarded and have immature reproductive systems. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,625,015 (GRCm39) V460A probably damaging Het
Aplf T C 6: 87,648,865 (GRCm39) I25V possibly damaging Het
Ascc3 A G 10: 50,494,281 (GRCm39) T239A probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cbfa2t2 A T 2: 154,278,904 (GRCm39) probably benign Het
Ccdc168 T C 1: 44,100,114 (GRCm39) D328G probably benign Het
Cfap46 A G 7: 139,219,515 (GRCm39) S1317P probably benign Het
Cntln C T 4: 84,923,214 (GRCm39) Q560* probably null Het
Cntn2 G C 1: 132,456,361 (GRCm39) A161G probably benign Het
Crybg1 A G 10: 43,832,782 (GRCm39) I1991T possibly damaging Het
Cttnbp2 T C 6: 18,414,189 (GRCm39) E952G probably damaging Het
Dhx36 T C 3: 62,379,428 (GRCm39) T887A possibly damaging Het
Dhx36 A G 3: 62,394,481 (GRCm39) F512L probably benign Het
Fthl17f A G X: 8,929,862 (GRCm39) T153A probably benign Het
Gad1-ps T A 10: 99,281,260 (GRCm39) noncoding transcript Het
Gba2 C T 4: 43,573,803 (GRCm39) R163H probably damaging Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Gm17019 A T 5: 15,081,081 (GRCm39) M120K possibly damaging Het
Helz2 C T 2: 180,874,854 (GRCm39) R1880H probably damaging Het
Ifi204 T C 1: 173,583,283 (GRCm39) I312V possibly damaging Het
Kncn T C 4: 115,743,089 (GRCm39) F55L probably benign Het
Kndc1 G A 7: 139,481,976 (GRCm39) probably benign Het
Nat8f3 C A 6: 85,738,670 (GRCm39) A31S probably benign Het
Ndst4 T C 3: 125,231,782 (GRCm39) I117T probably benign Het
Ndufa9 G T 6: 126,826,071 (GRCm39) probably benign Het
Nup42 T C 5: 24,387,325 (GRCm39) S372P probably benign Het
Pde6a A G 18: 61,364,575 (GRCm39) probably benign Het
Pigw T C 11: 84,769,133 (GRCm39) I65M probably damaging Het
Pip A G 6: 41,828,871 (GRCm39) T139A probably benign Het
Rel A T 11: 23,695,780 (GRCm39) D202E probably damaging Het
Rhot2 A G 17: 26,059,955 (GRCm39) probably benign Het
Sh3rf3 G A 10: 58,922,685 (GRCm39) R587Q possibly damaging Het
Sim1 T A 10: 50,785,624 (GRCm39) M231K probably damaging Het
Slc12a9 G A 5: 137,330,759 (GRCm39) T47M probably damaging Het
Slc4a4 A G 5: 89,382,663 (GRCm39) D1036G probably benign Het
Tas2r143 A T 6: 42,377,997 (GRCm39) I276F probably benign Het
Tgfbr3 A T 5: 107,288,485 (GRCm39) F392Y possibly damaging Het
Tmem266 T C 9: 55,307,918 (GRCm39) V148A probably damaging Het
Ubiad1 A G 4: 148,520,817 (GRCm39) I269T probably benign Het
Vwc2l A G 1: 70,768,041 (GRCm39) probably null Het
Zbtb49 G A 5: 38,357,975 (GRCm39) probably benign Het
Other mutations in Cdkn1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
bubbly UTSW 7 143,014,326 (GRCm39) missense possibly damaging 0.95
exuberant UTSW 7 143,013,531 (GRCm39) critical splice donor site probably benign
R1768:Cdkn1c UTSW 7 143,012,858 (GRCm39) missense probably benign 0.27
R7111:Cdkn1c UTSW 7 143,014,326 (GRCm39) missense possibly damaging 0.95
R7360:Cdkn1c UTSW 7 143,014,431 (GRCm39) missense possibly damaging 0.83
R7665:Cdkn1c UTSW 7 143,014,371 (GRCm39) missense possibly damaging 0.47
R8463:Cdkn1c UTSW 7 143,014,324 (GRCm39) missense possibly damaging 0.94
R9051:Cdkn1c UTSW 7 143,013,964 (GRCm39) missense possibly damaging 0.73
R9678:Cdkn1c UTSW 7 143,014,383 (GRCm39) missense probably benign 0.00
Z1177:Cdkn1c UTSW 7 143,014,053 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAGCTGCACCCCTACCAGTAG -3'
(R):5'- TGATGAGCTGGGAACTGAGC -3'

Sequencing Primer
(F):5'- CTACCAGTAGGAAAGGGGTGC -3'
(R):5'- AACTGAGCCGGTCTCTGAG -3'
Posted On 2015-02-19