Incidental Mutation 'R8357:Cdkl1'
ID 645830
Institutional Source Beutler Lab
Gene Symbol Cdkl1
Ensembl Gene ENSMUSG00000020990
Gene Name cyclin dependent kinase like 1
Synonyms 4933411O17Rik
MMRRC Submission 067807-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R8357 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 69793622-69838041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69794112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 342 (T342A)
Ref Sequence ENSEMBL: ENSMUSP00000021377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021372] [ENSMUST00000021377] [ENSMUST00000220916]
AlphaFold Q8CEQ0
Predicted Effect probably benign
Transcript: ENSMUST00000021372
SMART Domains Protein: ENSMUSP00000021372
Gene: ENSMUSG00000054894

DomainStartEndE-ValueType
PDB:3E4G|A 26 200 1e-102 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000021377
AA Change: T342A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000021377
Gene: ENSMUSG00000020990
AA Change: T342A

DomainStartEndE-ValueType
S_TKc 4 287 5.27e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220916
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T A 11: 46,030,939 (GRCm39) L813Q probably damaging Het
Alpk3 A G 7: 80,743,066 (GRCm39) N961S probably damaging Het
Arhgap42 A T 9: 9,016,221 (GRCm39) S403T probably benign Het
Chd2 T C 7: 73,096,985 (GRCm39) E1497G probably damaging Het
Cldn11 T C 3: 31,217,342 (GRCm39) V170A probably benign Het
Cps1 T A 1: 67,196,013 (GRCm39) F291I probably damaging Het
Cpsf2 T A 12: 101,968,929 (GRCm39) S722T probably damaging Het
Creld1 T C 6: 113,468,699 (GRCm39) probably null Het
Dgki T A 6: 36,827,891 (GRCm39) E1002V possibly damaging Het
Disp3 T A 4: 148,345,572 (GRCm39) I423F possibly damaging Het
Dysf T C 6: 84,165,227 (GRCm39) V1601A probably benign Het
E4f1 G A 17: 24,665,501 (GRCm39) A347V probably benign Het
Ehmt2 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 17: 35,124,137 (GRCm39) probably benign Het
Epb41l1 G A 2: 156,367,171 (GRCm39) R680Q probably benign Het
Fcrl5 T G 3: 87,351,567 (GRCm39) S272A probably damaging Het
Gbp7 A T 3: 142,252,133 (GRCm39) D572V probably benign Het
Gm21903 A T 17: 39,354,211 (GRCm39) F8I unknown Het
Grin2b A G 6: 135,709,197 (GRCm39) S1450P probably benign Het
Icos C A 1: 61,033,015 (GRCm39) S71R probably damaging Het
Ighv1-13 T A 12: 114,594,452 (GRCm39) N51K unknown Het
Ighv1-37 C T 12: 114,860,245 (GRCm39) probably benign Het
Il36g A G 2: 24,078,661 (GRCm39) Y87C probably benign Het
Irf7 T C 7: 140,843,194 (GRCm39) N440D possibly damaging Het
Ivns1abp T A 1: 151,229,761 (GRCm39) L150M probably damaging Het
Kif16b A G 2: 142,553,828 (GRCm39) I990T probably damaging Het
Kif23 A G 9: 61,834,317 (GRCm39) probably null Het
Lca5l T G 16: 95,960,908 (GRCm39) K523T possibly damaging Het
Mast3 A G 8: 71,233,085 (GRCm39) F1076L probably benign Het
Nek11 A T 9: 105,225,191 (GRCm39) I107N probably damaging Het
Nlrp12 T C 7: 3,289,435 (GRCm39) H359R probably damaging Het
Nox3 A G 17: 3,736,198 (GRCm39) S143P probably damaging Het
Or10q12 A T 19: 13,745,721 (GRCm39) N5I probably benign Het
Or8g36 A C 9: 39,422,442 (GRCm39) N191K probably benign Het
Rnf10 C A 5: 115,410,320 (GRCm39) K51N possibly damaging Het
Scap G A 9: 110,210,354 (GRCm39) G921D probably benign Het
Tk2 A T 8: 104,963,450 (GRCm39) S140T probably damaging Het
Tmem106b A G 6: 13,084,243 (GRCm39) Y249C probably damaging Het
Ttll5 T A 12: 85,923,352 (GRCm39) S276R probably damaging Het
Ugt1a7c T C 1: 88,023,078 (GRCm39) V79A probably benign Het
Zfp410 T C 12: 84,374,086 (GRCm39) V141A possibly damaging Het
Other mutations in Cdkl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01735:Cdkl1 APN 12 69,797,514 (GRCm39) missense probably benign
IGL01859:Cdkl1 APN 12 69,806,903 (GRCm39) missense probably damaging 1.00
R0218:Cdkl1 UTSW 12 69,836,809 (GRCm39) missense probably benign 0.01
R0905:Cdkl1 UTSW 12 69,803,338 (GRCm39) nonsense probably null
R3922:Cdkl1 UTSW 12 69,803,373 (GRCm39) missense probably damaging 1.00
R3924:Cdkl1 UTSW 12 69,803,373 (GRCm39) missense probably damaging 1.00
R3925:Cdkl1 UTSW 12 69,803,373 (GRCm39) missense probably damaging 1.00
R5050:Cdkl1 UTSW 12 69,804,014 (GRCm39) missense probably damaging 1.00
R5851:Cdkl1 UTSW 12 69,803,338 (GRCm39) nonsense probably null
R7183:Cdkl1 UTSW 12 69,795,706 (GRCm39) missense probably damaging 1.00
R7271:Cdkl1 UTSW 12 69,795,585 (GRCm39) missense probably benign 0.10
R7461:Cdkl1 UTSW 12 69,803,235 (GRCm39) missense probably benign 0.24
R8342:Cdkl1 UTSW 12 69,800,952 (GRCm39) missense probably damaging 1.00
R8457:Cdkl1 UTSW 12 69,794,112 (GRCm39) missense probably benign 0.01
R8827:Cdkl1 UTSW 12 69,794,123 (GRCm39) missense probably benign 0.00
R9177:Cdkl1 UTSW 12 69,794,100 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGAAACCCCAGGCTTTTGC -3'
(R):5'- GATTTAGATGGGGAAGATGTATTCC -3'

Sequencing Primer
(F):5'- CATGGAGCGTGGAATCTGGAATTC -3'
(R):5'- GAAGATGTATTCCTCTATCTCCAACG -3'
Posted On 2020-09-02