Incidental Mutation 'R3617:Cdkn1c'
Institutional Source Beutler Lab
Gene Symbol Cdkn1c
Ensembl Gene ENSMUSG00000037664
Gene Namecyclin-dependent kinase inhibitor 1C (P57)
SynonymsCDKI, Kip2, p57Kip2
MMRRC Submission 040674-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.753) question?
Stock #R3617 (G1)
Quality Score225
Status Validated
Chromosomal Location143458339-143461050 bp(-) (GRCm38)
Type of Mutationcritical splice donor site
DNA Base Change (assembly) C to T at 143459794 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037287] [ENSMUST00000167912] [ENSMUST00000207910] [ENSMUST00000207910]
Predicted Effect probably benign
Transcript: ENSMUST00000037287
SMART Domains Protein: ENSMUSP00000037302
Gene: ENSMUSG00000037664

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

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: 142,679,289 V460A probably damaging Het
Aplf T C 6: 87,671,883 I25V possibly damaging Het
Ascc3 A G 10: 50,618,185 T239A probably benign Het
Bahd1 G A 2: 118,922,523 R757H probably damaging Het
Cbfa2t2 A T 2: 154,436,984 probably benign Het
Cfap46 A G 7: 139,639,599 S1317P probably benign Het
Cntln C T 4: 85,004,977 Q560* probably null Het
Cntn2 G C 1: 132,528,623 A161G probably benign Het
Crybg1 A G 10: 43,956,786 I1991T possibly damaging Het
Cttnbp2 T C 6: 18,414,190 E952G probably damaging Het
Dhx36 T C 3: 62,472,007 T887A possibly damaging Het
Dhx36 A G 3: 62,487,060 F512L probably benign Het
Fthl17f A G X: 9,063,623 T153A probably benign Het
Gad1-ps T A 10: 99,445,398 noncoding transcript Het
Gba2 C T 4: 43,573,803 R163H probably damaging Het
Gm10717 A G 9: 3,025,532 Y39C probably benign Het
Gm17019 A T 5: 15,031,067 M120K possibly damaging Het
Gm8251 T C 1: 44,060,954 D328G probably benign Het
Helz2 C T 2: 181,233,061 R1880H probably damaging Het
Ifi204 T C 1: 173,755,717 I312V possibly damaging Het
Kncn T C 4: 115,885,892 F55L probably benign Het
Kndc1 G A 7: 139,902,060 probably benign Het
Nat8f3 C A 6: 85,761,688 A31S probably benign Het
Ndst4 T C 3: 125,438,133 I117T probably benign Het
Ndufa9 G T 6: 126,849,108 probably benign Het
Nupl2 T C 5: 24,182,327 S372P probably benign Het
Pde6a A G 18: 61,231,503 probably benign Het
Pigw T C 11: 84,878,307 I65M probably damaging Het
Pip A G 6: 41,851,937 T139A probably benign Het
Rel A T 11: 23,745,780 D202E probably damaging Het
Rhot2 A G 17: 25,840,981 probably benign Het
Sh3rf3 G A 10: 59,086,863 R587Q possibly damaging Het
Sim1 T A 10: 50,909,528 M231K probably damaging Het
Slc12a9 G A 5: 137,332,497 T47M probably damaging Het
Slc4a4 A G 5: 89,234,804 D1036G probably benign Het
Tas2r143 A T 6: 42,401,063 I276F probably benign Het
Tgfbr3 A T 5: 107,140,619 F392Y possibly damaging Het
Tmem266 T C 9: 55,400,634 V148A probably damaging Het
Ubiad1 A G 4: 148,436,360 I269T probably benign Het
Vwc2l A G 1: 70,728,882 probably null Het
Zbtb49 G A 5: 38,200,631 probably benign Het
Other mutations in Cdkn1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
bubbly UTSW 7 143460589 missense possibly damaging 0.95
exuberant UTSW 7 143459794 critical splice donor site probably benign
R1768:Cdkn1c UTSW 7 143459121 missense probably benign 0.27
R7111:Cdkn1c UTSW 7 143460589 missense possibly damaging 0.95
R7360:Cdkn1c UTSW 7 143460694 missense possibly damaging 0.83
R7665:Cdkn1c UTSW 7 143460634 missense possibly damaging 0.47
R8463:Cdkn1c UTSW 7 143460587 missense possibly damaging 0.94
Z1177:Cdkn1c UTSW 7 143460316 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-02-19