Incidental Mutation 'IGL02642:Cdk16'
ID 301767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk16
Ensembl Gene ENSMUSG00000031065
Gene Name cyclin dependent kinase 16
Synonyms Pctk1, Pctaire1, Crk5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # IGL02642
Quality Score
Status
Chromosome X
Chromosomal Location 20554210-20566119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 20563167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 381 (D381E)
Ref Sequence ENSEMBL: ENSMUSP00000111021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033380] [ENSMUST00000115364]
AlphaFold Q04735
Predicted Effect probably benign
Transcript: ENSMUST00000033380
AA Change: D416E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033380
Gene: ENSMUSG00000031065
AA Change: D416E

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
low complexity region 145 155 N/A INTRINSIC
S_TKc 165 446 8.85e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115364
AA Change: D381E

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000111021
Gene: ENSMUSG00000031065
AA Change: D381E

DomainStartEndE-ValueType
low complexity region 110 120 N/A INTRINSIC
S_TKc 130 411 8.85e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148757
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells; in exocytosis; and in transport of secretory cargo from the endoplasmic reticulum. This gene is thought to escape X inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with asthenozoospermia and abnormal sperm morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,644,720 (GRCm39) D68G probably damaging Het
Amer3 A G 1: 34,625,761 (GRCm39) probably benign Het
Ankrd11 A G 8: 123,617,390 (GRCm39) L2133P probably damaging Het
Bcdin3d G T 15: 99,368,673 (GRCm39) H175Q probably damaging Het
Brd8 C A 18: 34,741,117 (GRCm39) probably benign Het
C1rl C A 6: 124,470,806 (GRCm39) T38N possibly damaging Het
Cd160 T C 3: 96,707,927 (GRCm39) T140A probably benign Het
Cpq G A 15: 33,381,546 (GRCm39) G303D probably damaging Het
Dmp1 T C 5: 104,359,536 (GRCm39) S71P probably damaging Het
Enc1 A C 13: 97,382,042 (GRCm39) D184A possibly damaging Het
Enkur T C 2: 21,199,198 (GRCm39) D112G probably benign Het
Esrra A T 19: 6,890,218 (GRCm39) V59E possibly damaging Het
F830016B08Rik A G 18: 60,433,058 (GRCm39) N47S probably benign Het
Fads1 T A 19: 10,163,785 (GRCm39) V189D probably damaging Het
Fam167a T A 14: 63,689,721 (GRCm39) I6N probably damaging Het
Fam98b A G 2: 117,090,793 (GRCm39) T164A probably benign Het
Fhip2a A G 19: 57,373,782 (GRCm39) N681D possibly damaging Het
Fryl T A 5: 73,252,809 (GRCm39) I953L probably benign Het
Gm10610 T A 7: 83,198,813 (GRCm39) noncoding transcript Het
Grik5 G T 7: 24,758,408 (GRCm39) N338K possibly damaging Het
Gstt2 A G 10: 75,668,652 (GRCm39) I72T probably benign Het
Gusb T C 5: 130,029,376 (GRCm39) probably null Het
Hccs A G X: 168,098,588 (GRCm39) probably benign Het
Hoxb4 A G 11: 96,211,050 (GRCm39) K217E probably damaging Het
Hpd C T 5: 123,319,503 (GRCm39) V22I possibly damaging Het
Ighv1-47 A G 12: 114,954,844 (GRCm39) Y79H probably damaging Het
Il7r C A 15: 9,513,133 (GRCm39) probably benign Het
Lama1 A T 17: 68,119,361 (GRCm39) M2613L probably benign Het
Lama2 G A 10: 27,343,269 (GRCm39) H68Y probably damaging Het
Lce1c C A 3: 92,587,845 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrfn1 T C 7: 28,158,113 (GRCm39) probably benign Het
Lrriq1 T A 10: 103,057,322 (GRCm39) probably null Het
Mri1 A T 8: 84,983,702 (GRCm39) L63Q probably damaging Het
Mrps11 G T 7: 78,438,522 (GRCm39) probably null Het
Mtif2 C A 11: 29,494,395 (GRCm39) Q666K probably benign Het
Mtr A T 13: 12,210,118 (GRCm39) probably benign Het
Mug1 A G 6: 121,859,544 (GRCm39) N1181S probably benign Het
Myom1 A T 17: 71,408,093 (GRCm39) E1209V possibly damaging Het
Nhsl1 A G 10: 18,284,138 (GRCm39) I26M possibly damaging Het
Nlrp1a T A 11: 71,014,358 (GRCm39) K297N probably benign Het
Obox5 T C 7: 15,491,972 (GRCm39) V129A probably benign Het
Pex16 C T 2: 92,206,981 (GRCm39) A53V probably damaging Het
Pfpl T C 19: 12,407,107 (GRCm39) F453L probably damaging Het
Pip5k1b G T 19: 24,323,731 (GRCm39) H406N probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plcxd3 T C 15: 4,546,122 (GRCm39) F42S possibly damaging Het
Pnpla7 T C 2: 24,940,288 (GRCm39) F1056L probably benign Het
Rapgef1 T C 2: 29,590,872 (GRCm39) probably benign Het
Rdh11 G A 12: 79,232,110 (GRCm39) probably benign Het
Serac1 A G 17: 6,096,021 (GRCm39) F576S possibly damaging Het
Slc45a4 A T 15: 73,458,664 (GRCm39) M295K probably benign Het
Taf1c T C 8: 120,325,796 (GRCm39) T689A probably benign Het
Timm10b G T 7: 105,317,645 (GRCm39) probably benign Het
Tle5 A T 10: 81,397,126 (GRCm39) Q34L possibly damaging Het
Tnc A T 4: 63,883,816 (GRCm39) probably benign Het
Toporsl T C 4: 52,611,114 (GRCm39) W336R probably benign Het
Usp54 C A 14: 20,615,140 (GRCm39) probably benign Het
Vmn1r233 T C 17: 21,214,291 (GRCm39) R220G probably damaging Het
Other mutations in Cdk16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03343:Cdk16 APN X 20,561,998 (GRCm39) missense probably damaging 1.00
R1687:Cdk16 UTSW X 20,562,898 (GRCm39) splice site probably null
R5088:Cdk16 UTSW X 20,562,566 (GRCm39) intron probably benign
Posted On 2015-04-16