Incidental Mutation 'R8463:Cdkn1c'
ID 656663
Institutional Source Beutler Lab
Gene Symbol Cdkn1c
Ensembl Gene ENSMUSG00000037664
Gene Name cyclin dependent kinase inhibitor 1C
Synonyms Kip2, CDKI, p57Kip2
MMRRC Submission 067907-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.806) question?
Stock # R8463 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 143012076-143014735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143014324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 41 (H41Y)
Ref Sequence ENSEMBL: ENSMUSP00000128828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037287] [ENSMUST00000167912] [ENSMUST00000207910]
AlphaFold P49919
Predicted Effect possibly damaging
Transcript: ENSMUST00000037287
AA Change: H28Y

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037302
Gene: ENSMUSG00000037664
AA Change: H28Y

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 possibly damaging
Transcript: ENSMUST00000167912
AA Change: H41Y

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128828
Gene: ENSMUSG00000037664
AA Change: H41Y

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: ENSMUST00000208137
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (64/65)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,192,909 (GRCm39) I146F probably damaging Het
Adcy8 G T 15: 64,792,874 (GRCm39) D27E probably benign Het
Ahnak A G 19: 8,986,113 (GRCm39) I2466V probably benign Het
BC005624 T A 2: 30,871,817 (GRCm39) E19V possibly damaging Het
Bnc2 A T 4: 84,211,608 (GRCm39) F279I probably damaging Het
Bub1 A T 2: 127,659,353 (GRCm39) L335M probably benign Het
Celsr1 G A 15: 85,914,415 (GRCm39) P1186L probably damaging Het
Cnot2 A G 10: 116,353,236 (GRCm39) L75S probably benign Het
Cntn6 A T 6: 104,749,580 (GRCm39) E338D possibly damaging Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Dlg2 G T 7: 91,617,441 (GRCm39) M289I probably benign Het
Dzip1l A T 9: 99,519,875 (GRCm39) D134V possibly damaging Het
Fam171b A G 2: 83,683,801 (GRCm39) Y106C probably damaging Het
Fgd3 T C 13: 49,420,081 (GRCm39) K599E possibly damaging Het
Gabrr2 A T 4: 33,084,375 (GRCm39) I154F probably damaging Het
Gjd2 T A 2: 113,842,053 (GRCm39) E141D probably benign Het
Gmds T C 13: 32,003,906 (GRCm39) N371S probably benign Het
Gp2 C T 7: 119,053,554 (GRCm39) A136T probably damaging Het
Gstm2 A G 3: 107,893,672 (GRCm39) probably null Het
Hnmt T C 2: 23,938,836 (GRCm39) M1V probably null Het
Hydin T C 8: 111,237,553 (GRCm39) V1942A probably benign Het
Krt87 C A 15: 101,332,506 (GRCm39) A236S probably benign Het
Lama3 A T 18: 12,582,896 (GRCm39) H654L probably damaging Het
Lrp2 G A 2: 69,322,250 (GRCm39) T1893M probably damaging Het
Lyg1 A T 1: 37,988,922 (GRCm39) Y99* probably null Het
Mdga1 T C 17: 30,068,703 (GRCm39) D208G probably damaging Het
Mgarp T C 3: 51,296,348 (GRCm39) E218G probably damaging Het
Mif4gd T A 11: 115,499,324 (GRCm39) D186V probably benign Het
Mlec T C 5: 115,288,283 (GRCm39) Y191C probably damaging Het
Mtus1 C A 8: 41,536,271 (GRCm39) V482L probably benign Het
Muc16 T A 9: 18,570,435 (GRCm39) T695S unknown Het
Muc4 A T 16: 32,574,201 (GRCm39) M760L probably benign Het
Mybl2 A T 2: 162,916,638 (GRCm39) S430C probably damaging Het
Nepn A G 10: 52,276,896 (GRCm39) N211D probably benign Het
Nuggc A G 14: 65,851,011 (GRCm39) T294A probably damaging Het
Or51k2 G A 7: 103,595,834 (GRCm39) probably null Het
Or5w16 A T 2: 87,577,437 (GRCm39) E299V probably benign Het
Pcca A G 14: 122,922,526 (GRCm39) probably null Het
Pcdhb13 T G 18: 37,576,287 (GRCm39) S222A possibly damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plppr3 A T 10: 79,703,397 (GRCm39) V29E probably damaging Het
Plxna2 C T 1: 194,326,354 (GRCm39) P96L probably damaging Het
Pop4 A T 7: 37,962,599 (GRCm39) *222R probably null Het
Prss2 T A 6: 41,498,739 (GRCm39) M1K probably null Het
Prss3 C A 6: 41,352,059 (GRCm39) R68L probably benign Het
Recql5 G A 11: 115,787,619 (GRCm39) Q512* probably null Het
Rnf148 A G 6: 23,654,801 (GRCm39) I65T probably benign Het
Scgb1b19 G A 7: 32,987,082 (GRCm39) A78T probably benign Het
Sftpd A G 14: 40,897,583 (GRCm39) probably null Het
Shank1 A G 7: 44,003,605 (GRCm39) R1766G possibly damaging Het
Slc35e2 T C 4: 155,694,615 (GRCm39) L54P probably damaging Het
Smg6 A G 11: 74,820,886 (GRCm39) K386E probably benign Het
Sorcs1 A G 19: 50,248,248 (GRCm39) S393P probably damaging Het
Spen A G 4: 141,249,590 (GRCm39) V66A unknown Het
Tpm1 G T 9: 66,955,512 (GRCm39) A45E probably benign Het
Trmt2a T C 16: 18,069,039 (GRCm39) Y294H probably damaging Het
Txnl4b T C 8: 110,299,430 (GRCm39) V130A possibly damaging Het
Vmn2r14 C A 5: 109,369,340 (GRCm39) V78L probably benign Het
Vmn2r27 A G 6: 124,169,168 (GRCm39) V654A probably damaging Het
Wee2 G T 6: 40,420,914 (GRCm39) M1I probably null Het
Xpnpep3 A G 15: 81,332,672 (GRCm39) K403R probably benign Het
Zranb1 A G 7: 132,551,810 (GRCm39) T154A possibly damaging 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
R3617:Cdkn1c UTSW 7 143,013,531 (GRCm39) critical splice donor site probably benign
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
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'- TGCTCAGAGACCTGCTCAG -3'
(R):5'- TCACCAATCAGCCAGGTAGC -3'

Sequencing Primer
(F):5'- CTGAGGTCAGATCTGAAGCC -3'
(R):5'- AATCAGCCAGGTAGCCGCTG -3'
Posted On 2021-01-18