Incidental Mutation 'IGL02988:Cdk14'
ID 453476
Institutional Source Beutler Lab
Gene Symbol Cdk14
Ensembl Gene ENSMUSG00000028926
Gene Name cyclin dependent kinase 14
Synonyms Pftk1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02988 (G1)
Quality Score 175
Status Validated
Chromosome 5
Chromosomal Location 4853384-5430251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5086484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 279 (Y279H)
Ref Sequence ENSEMBL: ENSMUSP00000111112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030763] [ENSMUST00000115450] [ENSMUST00000115451] [ENSMUST00000115452]
AlphaFold O35495
Predicted Effect probably damaging
Transcript: ENSMUST00000030763
AA Change: Y297H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030763
Gene: ENSMUSG00000028926
AA Change: Y297H

DomainStartEndE-ValueType
low complexity region 119 127 N/A INTRINSIC
S_TKc 135 419 3.63e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115450
AA Change: Y251H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111110
Gene: ENSMUSG00000028926
AA Change: Y251H

DomainStartEndE-ValueType
low complexity region 73 81 N/A INTRINSIC
S_TKc 89 373 3.63e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115451
AA Change: Y251H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111111
Gene: ENSMUSG00000028926
AA Change: Y251H

DomainStartEndE-ValueType
low complexity region 73 81 N/A INTRINSIC
S_TKc 89 373 3.63e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115452
AA Change: Y279H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111112
Gene: ENSMUSG00000028926
AA Change: Y279H

DomainStartEndE-ValueType
low complexity region 101 109 N/A INTRINSIC
S_TKc 117 401 3.63e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156660
Meta Mutation Damage Score 0.9724 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (71/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Aadacl4fm5 T A 4: 144,513,100 (GRCm39) probably benign Het
Adgrd1 G A 5: 129,221,074 (GRCm39) A488T probably benign Het
Ano3 T C 2: 110,605,355 (GRCm39) S284G probably damaging Het
Aox1 G T 1: 58,376,509 (GRCm39) V897L probably benign Het
Arl6 T A 16: 59,434,209 (GRCm39) probably null Het
Blnk G A 19: 40,917,660 (GRCm39) T441M probably damaging Het
Casp8ap2 C T 4: 32,644,590 (GRCm39) T1221I probably benign Het
Cbll1 A T 12: 31,542,171 (GRCm39) F63L possibly damaging Het
Cflar A T 1: 58,780,190 (GRCm39) I265F possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,897,272 (GRCm39) Y347* probably null Het
Defa27 T C 8: 21,805,583 (GRCm39) S8P probably damaging Het
Depdc5 A C 5: 33,113,511 (GRCm39) probably null Het
Dlg5 A G 14: 24,216,323 (GRCm39) F573S probably damaging Het
Fam20c A T 5: 138,741,749 (GRCm39) E120V probably benign Het
Fam53a T C 5: 33,764,819 (GRCm39) K296E probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fndc1 T C 17: 7,972,355 (GRCm39) T1526A possibly damaging Het
Gm14325 A C 2: 177,476,042 (GRCm39) probably null Het
Gm7582 G A 1: 85,019,588 (GRCm39) noncoding transcript Het
Golga7b A C 19: 42,255,239 (GRCm39) Y63S probably damaging Het
Hexb A G 13: 97,334,729 (GRCm39) L14P unknown Het
Hsd17b3 A C 13: 64,236,914 (GRCm39) L10R probably damaging Het
Il6st T C 13: 112,635,420 (GRCm39) F611L probably damaging Het
Ints13 T A 6: 146,457,646 (GRCm39) T411S possibly damaging Het
Kif18b C A 11: 102,799,146 (GRCm39) C685F probably damaging Het
Kif5c A G 2: 49,509,729 (GRCm39) N19S probably damaging Het
Lmbr1 G T 5: 29,497,221 (GRCm39) probably null Het
Minar1 A G 9: 89,484,792 (GRCm39) S202P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrc2 G A 11: 105,216,397 (GRCm39) R62Q probably benign Het
Myo1g T C 11: 6,458,183 (GRCm39) probably benign Het
Myo5a A T 9: 75,037,423 (GRCm39) probably benign Het
Nobox G A 6: 43,282,095 (GRCm39) S326L possibly damaging Het
Nsl1 C A 1: 190,795,300 (GRCm39) S22* probably null Het
Or5b3 A C 19: 13,388,826 (GRCm39) K298Q possibly damaging Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Pdia3 T A 2: 121,260,037 (GRCm39) L192Q probably damaging Het
Pkd2 A T 5: 104,651,471 (GRCm39) R940* probably null Het
Plcd3 T A 11: 102,967,568 (GRCm39) Q458L probably benign Het
Polm T A 11: 5,786,343 (GRCm39) T75S probably benign Het
Pon3 T A 6: 5,232,330 (GRCm39) D230V possibly damaging Het
Pxdn A T 12: 30,053,113 (GRCm39) K917* probably null Het
Rad54l2 A G 9: 106,577,784 (GRCm39) S1046P probably benign Het
Rb1cc1 T C 1: 6,318,035 (GRCm39) probably null Het
Rnf215 A G 11: 4,086,785 (GRCm39) E194G probably damaging Het
Rorb A T 19: 18,915,336 (GRCm39) F441I probably damaging Het
Sel1l2 C A 2: 140,090,508 (GRCm39) G378V probably damaging Het
Sema6a G T 18: 47,431,281 (GRCm39) A139D probably damaging Het
Serpinb3d A T 1: 107,006,266 (GRCm39) M274K probably benign Het
Siglec15 A C 18: 78,092,462 (GRCm39) L32R probably damaging Het
Siglecg A T 7: 43,067,476 (GRCm39) D681V probably damaging Het
Slc6a13 G T 6: 121,303,066 (GRCm39) probably benign Het
Slc9b2 G T 3: 135,024,179 (GRCm39) A77S probably benign Het
Slit3 T A 11: 35,598,890 (GRCm39) V1498D probably damaging Het
Snorc A G 1: 87,402,926 (GRCm39) probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Stxbp2 T C 8: 3,683,267 (GRCm39) probably benign Het
Tbc1d9b T C 11: 50,042,773 (GRCm39) S482P possibly damaging Het
Tec A G 5: 72,926,090 (GRCm39) S321P possibly damaging Het
Tenm3 A G 8: 48,688,381 (GRCm39) M2402T probably damaging Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Tm4sf1 A T 3: 57,200,537 (GRCm39) probably null Het
Tmcc1 T C 6: 116,019,889 (GRCm39) E306G probably damaging Het
Traf3ip3 A T 1: 192,877,182 (GRCm39) probably null Het
Utf1 C T 7: 139,523,875 (GRCm39) P30L possibly damaging Het
Wdfy3 A T 5: 102,077,847 (GRCm39) C880S probably damaging Het
Other mutations in Cdk14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Cdk14 APN 5 5,299,237 (GRCm39) splice site probably benign
IGL01376:Cdk14 APN 5 5,060,839 (GRCm39) missense probably damaging 1.00
IGL02102:Cdk14 APN 5 5,430,083 (GRCm39) missense probably benign 0.01
IGL02179:Cdk14 APN 5 5,153,845 (GRCm39) missense probably damaging 1.00
IGL02423:Cdk14 APN 5 4,938,905 (GRCm39) missense probably benign 0.00
IGL03081:Cdk14 APN 5 4,999,527 (GRCm39) splice site probably benign
R0465:Cdk14 UTSW 5 5,143,019 (GRCm39) missense probably damaging 1.00
R0630:Cdk14 UTSW 5 5,185,422 (GRCm39) splice site probably benign
R1452:Cdk14 UTSW 5 4,938,927 (GRCm39) missense possibly damaging 0.85
R1601:Cdk14 UTSW 5 5,185,378 (GRCm39) missense probably damaging 1.00
R1629:Cdk14 UTSW 5 5,153,807 (GRCm39) missense probably benign 0.18
R1659:Cdk14 UTSW 5 4,999,571 (GRCm39) missense probably benign 0.08
R1809:Cdk14 UTSW 5 5,060,901 (GRCm39) missense probably damaging 0.98
R2013:Cdk14 UTSW 5 5,143,047 (GRCm39) missense probably damaging 1.00
R2015:Cdk14 UTSW 5 5,430,082 (GRCm39) missense probably benign
R2256:Cdk14 UTSW 5 4,938,924 (GRCm39) missense probably benign
R2257:Cdk14 UTSW 5 4,938,924 (GRCm39) missense probably benign
R2908:Cdk14 UTSW 5 5,299,051 (GRCm39) missense probably benign 0.33
R4324:Cdk14 UTSW 5 5,086,532 (GRCm39) nonsense probably null
R4432:Cdk14 UTSW 5 5,086,427 (GRCm39) missense probably damaging 1.00
R4907:Cdk14 UTSW 5 5,299,140 (GRCm39) missense probably damaging 0.96
R5426:Cdk14 UTSW 5 4,938,975 (GRCm39) missense possibly damaging 0.93
R5708:Cdk14 UTSW 5 5,316,036 (GRCm39) intron probably benign
R6006:Cdk14 UTSW 5 5,299,211 (GRCm39) start codon destroyed probably null 0.33
R6120:Cdk14 UTSW 5 4,944,029 (GRCm39) missense probably damaging 0.96
R7048:Cdk14 UTSW 5 5,143,005 (GRCm39) missense probably damaging 1.00
R7104:Cdk14 UTSW 5 5,245,325 (GRCm39) missense possibly damaging 0.92
R7712:Cdk14 UTSW 5 5,430,061 (GRCm39) missense possibly damaging 0.86
R8046:Cdk14 UTSW 5 5,299,159 (GRCm39) missense possibly damaging 0.86
R8121:Cdk14 UTSW 5 5,277,195 (GRCm39) missense possibly damaging 0.92
R8195:Cdk14 UTSW 5 5,277,159 (GRCm39) splice site probably null
R8279:Cdk14 UTSW 5 5,316,125 (GRCm39) intron probably benign
R8312:Cdk14 UTSW 5 4,944,141 (GRCm39) missense probably benign 0.03
R8543:Cdk14 UTSW 5 5,430,079 (GRCm39) missense probably benign 0.02
R8728:Cdk14 UTSW 5 5,470,117 (GRCm39) synonymous silent
R8862:Cdk14 UTSW 5 5,060,862 (GRCm39) missense probably benign 0.01
R8914:Cdk14 UTSW 5 5,086,515 (GRCm39) missense possibly damaging 0.93
R8956:Cdk14 UTSW 5 5,277,182 (GRCm39) missense probably damaging 1.00
R9111:Cdk14 UTSW 5 5,315,985 (GRCm39) missense possibly damaging 0.93
R9649:Cdk14 UTSW 5 5,423,477 (GRCm39) missense probably benign 0.07
R9796:Cdk14 UTSW 5 5,316,012 (GRCm39) missense probably benign 0.10
Z1176:Cdk14 UTSW 5 5,185,322 (GRCm39) nonsense probably null
Z1177:Cdk14 UTSW 5 4,938,894 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GAGGTCCCATTCCCAATCAG -3'
(R):5'- GTGCTAACCTTGAACTTGCG -3'

Sequencing Primer
(F):5'- TCAGATTGTTAAAAGGCAACAGCAC -3'
(R):5'- GCCCACTTAACTTCTTCATG -3'
Posted On 2017-02-08