Incidental Mutation 'IGL01735:Cdkl1'
ID105651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdkl1
Ensembl Gene ENSMUSG00000020990
Gene Namecyclin-dependent kinase-like 1 (CDC2-related kinase)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL01735
Quality Score
Status
Chromosome12
Chromosomal Location69746848-69791267 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 69750740 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 258 (Y258S)
Ref Sequence ENSEMBL: ENSMUSP00000021377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021377]
Predicted Effect probably benign
Transcript: ENSMUST00000021377
AA Change: Y258S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021377
Gene: ENSMUSG00000020990
AA Change: Y258S

DomainStartEndE-ValueType
S_TKc 4 287 5.27e-105 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A T 12: 4,201,213 M612L probably benign Het
Adhfe1 C A 1: 9,548,148 T19K possibly damaging Het
Atxn1 C T 13: 45,566,722 V566M probably damaging Het
Bag6 T C 17: 35,145,761 probably benign Het
Chil6 A T 3: 106,388,688 probably null Het
Clcn7 T C 17: 25,151,116 F326L probably benign Het
Cngb3 A G 4: 19,415,648 Y386C probably damaging Het
Dnah6 C A 6: 73,076,660 E2916* probably null Het
Dnhd1 A G 7: 105,713,754 E3841G probably benign Het
Fat1 G T 8: 45,036,239 V3493L probably benign Het
Gm13103 A G 4: 143,851,831 I220M probably damaging Het
Irx5 A T 8: 92,360,703 H421L probably damaging Het
Kbtbd6 T C 14: 79,453,449 V465A probably damaging Het
Kcp T A 6: 29,498,879 N340I probably damaging Het
Klhdc2 A G 12: 69,300,279 M73V probably benign Het
Lpar1 A G 4: 58,437,407 S341P probably damaging Het
Lrba G A 3: 86,327,661 V838I probably benign Het
Med12l A G 3: 59,263,254 I1652V probably damaging Het
Myo5c A T 9: 75,301,438 D1677V probably damaging Het
Ncoa2 A T 1: 13,164,903 N935K probably benign Het
Nfrkb T C 9: 31,410,139 S711P possibly damaging Het
Olfr1140 A G 2: 87,746,306 I37V probably benign Het
Olfr352 C A 2: 36,869,686 T40K possibly damaging Het
Olfr608 T C 7: 103,470,323 F95L probably damaging Het
Prl7d1 A G 13: 27,714,389 F47L possibly damaging Het
Ptprd A C 4: 76,136,820 probably null Het
Rsph14 C A 10: 75,025,160 G103C probably damaging Het
Slco1a4 A G 6: 141,817,751 F413S probably benign Het
Slfn9 A G 11: 82,982,332 Y582H probably damaging Het
Tcirg1 A T 19: 3,904,210 probably benign Het
Trac G A 14: 54,222,981 probably benign Het
Wbp2nl G T 15: 82,313,816 V185L probably benign Het
Other mutations in Cdkl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Cdkl1 APN 12 69760129 missense probably damaging 1.00
R0218:Cdkl1 UTSW 12 69790035 missense probably benign 0.01
R0905:Cdkl1 UTSW 12 69756564 nonsense probably null
R3922:Cdkl1 UTSW 12 69756599 missense probably damaging 1.00
R3924:Cdkl1 UTSW 12 69756599 missense probably damaging 1.00
R3925:Cdkl1 UTSW 12 69756599 missense probably damaging 1.00
R5050:Cdkl1 UTSW 12 69757240 missense probably damaging 1.00
R5851:Cdkl1 UTSW 12 69756564 nonsense probably null
R7183:Cdkl1 UTSW 12 69748932 missense probably damaging 1.00
R7271:Cdkl1 UTSW 12 69748811 missense probably benign 0.10
R7461:Cdkl1 UTSW 12 69756461 missense probably benign 0.24
Posted On2014-01-21