ZMP

cdkl5

Ensembl ID:

ENSDARG00000015240

ZFIN IDs:

ZDB-GENE-081022-110, ZDB-GENE-081022-110

Description:

cyclin-dependent kinase-like 5 isoform 1 [Source:RefSeq peptide;Acc:NP_001139240]

Human Orthologue:

CDKL5

Human Description:

cyclin-dependent kinase-like 5 [Source:HGNC Symbol;Acc:11411]

Mouse Orthologue:

Cdkl5

Mouse Description:

cyclin-dependent kinase-like 5 Gene [Source:MGI Symbol;Acc:MGI:1278336]

Alleles

There are 5 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa21938	Nonsense	Available for shipment	Available now
sa16950	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa21938

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
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Mutation:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000010026	Nonsense	528	1039	11	17
ENSDART00000127502	Nonsense	528	1080	11	18

Genomic Location (Zv9):

Chromosome 11 (position 31094681)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	29972043
GRCz11	11	30219227

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCTAGCAGAGACACGACTCCACCTGGATGATCCTATGGCAGGATCCGGTT[C/A]AGGCTCTCGATATTTCCCGTCCAGCTGCCTGGATCTAAACGCAGCTCCTG

Long Flanking Sequence:

CGACAGCTTCCTAAATGGCACCAACATGCCAACGTCATCCACCCTGAGTCCTACACTACACCCCAAAAGCTACCAGGCCCAGACTCTCAGCCGCTCGGCCTCTTCCAACAAAGACCTGGCCAACAACAACCTTCCGCATCTCCTCAGCCCTAAAGATGCGAAAGGAAAGACAGAGTTTGATTTCAATCTGGGGCCTAAAGTTGGAGTTGCCTCCGTGGGTATGGACACATCTACCGGCAAGTACCTCAAATCATCCAAACAAGGCCGTCACTCATCCTTCCTGGAAGGAAAGACCAGCACGCTGCAGTCCGGGGACAAGCACAGTCGGCACAACTACATGGAGTCCTCACACGGATCCATGCCTTCCACGTCCTCCTCCAAAAGCTCCTCATCCTTCCTCAGCTTGTCCAAAAGCCACGGCGCACTTAATGACGCCAAGTCTGTGAGCAATCTAGCAGAGACACGACTCCACCTGGATGATCCTATGGCAGGATCCGGTT[C/A]AGGCTCTCGATATTTCCCGTCCAGCTGCCTGGATCTAAACGCAGCTCCTGGTAGCCCCAGAGGTGAACGGCATGCTGGGACGGAGCGGCAGGGTCACAGTCCCAGTGGCCGGGGGAGCAATCGCCTTGAAGGGGGCACTCTGGACTCGCGGCGCTCCTCGGGACGGAAAAAGACACCAGATGAACCGAAGCCTACTGATACTCTGGATCCAAGCAGAGCTGCGGGAGGCCATGCTCACAATCTCCCGTCGCCACATGAATCCTATCCTTACGGTCTTGGATACACCAGCCCGTTCTCCTCGCAGCAGCGACCTCATCGGCACTCTATGTATGTGCGGAGAGAGCGACACCGGCCGCACGGCCAGGAGAACAATTTGGTGGTTGGACAGGGAGTGCCAACGCGTGCCAGCAGCCTACAGCTCCTTTCGCCGCAGCTTCAGCACCGCACACTCCCACGCCACAACACCAGTTCCTCCAGAGAAGAGCTCACGCCAGAGCTCA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa16950

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000010026	Essential Splice Site	730	1039	12	17
ENSDART00000127502	Essential Splice Site	730	1080	12	18

Genomic Location (Zv9):

Chromosome 11 (position 31095672)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	29973034
GRCz11	11	30220218

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CGACKAGGGACAACACAGCTACCTTCCACACACAACGCCCAAAAAACGAG[G/A]TCCGAGGTCTCAGCAGGACCCTCAGAAMGCGTCCACTCAYACACTCAAAC

Long Flanking Sequence:

CCAGAGCTCAGCAGGGTCAGTGACCTGCTCTGCTTTTATCCTAGCGTCCTGTGGCAAATTAAACCTTATAATCTTGCTAAAATGCTCTACTCGGTCCATTCCCATGGTGTTTAATATCTGAGAAGGAATATCCTGTTATTCGTCTGTTCATCTCTGTCTGAATATTTTCACAATTTTTTCCCAAACAGCAGTGCTTGCTCACCATAATAATTTCTTGAGATTCGATTGTTATGTGTTTGCTTTTGCGTGTGTGTGTGTGTGTGTATGTGATCTAATTTAAGATACAGCTCTGCTGCATCCTGTATTCTTGCATTTTGTTTCGTTTTATCTGATTATTACATGCGCGCTCTCAGTGTCTCCCAGTGTCTGCTTATTTTGCTGTGTGTTTATGTCTGCAGAATGACCAGTCTCCCAAAGAGAAGCCTCATTCTCGCCCCCTGATTAAAGATTCGACGAGGGACAACACAGCTACCTTCCACACACAACGCCCAAAAAACGAG[G/A]TCCGAGGTCTCAGCAGGACCCTCAGAACGCGTCCACTCACACACTCAAACTCACAAGATGCTATTGTTTTCATGCTTCGTCTGATCTTTTTTTTAATACATTGATCTCATAAAAGCAAATCACATTTAGCTTTCAAATCATTGATATGGATGTTTTTTAAATGTTCATGTCATTGCATTAACTGCTAGCTCATTAAAGATCTAGGTTCTCAGTTAAAGGGACAGTTCACCTGAAGCCCAATGTATATATATTTTTATGCATATGCAAGCATCAGTTTTGTGACATAGTATGAATGTTGCCTAATATTTTTTGTTACTTTTTTGTACTGGTTCACATACACCTAGAGCGTGCTTTCAAACCTGGCTCAAATTTTCAAACGCTGGAATTGTTCATATCCTATCACTATAGCTAGTTAATTTGGGCAAATGTGAACACAGCAATCGGGCTCAGATCTGTACCTAAACAATTCTGAAAAGGTCTAGATATATTTTAAATGAACT

Associated Phenotype:

Not determined