ZMP

kbtbd5b

Ensembl ID:

ENSDARG00000019125

ZFIN ID:

ZDB-GENE-060227-1

Human Orthologue:

KBTBD5

Human Description:

kelch repeat and BTB (POZ) domain containing 5 [Source:HGNC Symbol;Acc:30372]

Mouse Orthologue:

Kbtbd5

Mouse Description:

kelch repeat and BTB (POZ) domain containing 5 Gene [Source:MGI Symbol;Acc:MGI:1919580]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa12141	Nonsense	Available for shipment	Available now
sa11326	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa12141

Status:

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

Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000010488	Nonsense	194	618	1	6

Genomic Location (Zv9):

Chromosome 24 (position 21184336)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	24	20431465
GRCz11	24	20575884

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GCGAATTGGCGGCAGTTTTGGCATCAGACTCTTTGAACGTAGAGACGGWG[C/T]AGGATGTTTTTGAGGCTTTGATCAAGTGGGTTGGACAWGACCAAGARAWC

Long Flanking Sequence:

TGGAGAGTGATATGATGGTTGATTGTGTGTTGAAGATAAAAGACAAGGAGTTTCCCTGCCACCGGTTGGTCCTGGCGGCCTGCAGCTCCTACTTCAGAGCTTTCTTCAAATCAGGTGTGGAGGAGAGCAAACAGCGAGAGATTGTTTTGGAGGACGTGGAGCCTGGAGTCATGGGAATTATCCTGAAGTACCTCTACACCTCCAACATCAATGTGACAGAGCAAAACGTTCAGGACATCTTCGCCTTGTCTAACATGCTTCAGATCCCGTCAATATTCACTGTATGTGTCTCGTTCCTGCAAAAGCGCCTGAGTTTGAGCAACTGCTTAGCCATTTTTAGATTAGGCCTGATGTTGGATTGTCCTCGTCTTGCCATATCGGCGAGGAACTTTGCTTGCGAGCGCTTTCAGTTTATTACTCGGGATGAGGAATTCCTGCAGCTGACTCCAAGCGAATTGGCGGCAGTTTTGGCATCAGACTCTTTGAACGTAGAGACGGAG[C/T]AGGATGTTTTTGAGGCTTTGATCAAGTGGGTTGGACATGACCAAGAGAACAGAATTGGGGACTTACCAGATCTGCTGGACTGCATCAGGCTACGTCTGGTTCCTCGGGACTACTTTGTCAAAAATGTGGAGAAACATGAGTGGTTGAGCTCGAATCCTGAGATCACTAAGAAACTCCAACTGGTCAAAGATGCCCATGCGGGGAAGCTTCCGGAACTCAAGAAAACCAAAAACAAAAAGAGTCCTAGTGAGGAAGGACAGAAGAAGGGAGATGAAGAGGAGGTGGAGGAGGAGGAAGAGCAGGAAGAGCGACTTCCAGGAATCTTGAATGACAACCTGCGGTTCGGGATGTTCTTGAGAGAGTTGATCTTTTTGATCAATGACTCTGCATCGGTGGCTTATGACCCAACAGGAAATGATTGTTATGTGGCATCGGTCTCAACTCAAATTCCCAAAAACCATTGCAGTCTGGTCACAAAGGAAAACCAGATATTTGTGGCA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa11326

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:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000010488	Essential Splice Site	532	618	4	6

Genomic Location (Zv9):

Chromosome 24 (position 21188137)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	24	20435266
GRCz11	24	20579685

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ACTCAGGCCTCACGGGCAGCGCTGAGGTCTATGACATCAAAACCAACAAG[T/C]AAGTGTTTCCACAATACGACCAAACAAACGCCWAGAAARAACAYGTGTAA

Long Flanking Sequence:

GAGAAGCTGCTTTAATTTAAAAAAAATTTTTTTTTTTTAAATTTACTACCTTTTGTTATGTTTGGGATGAAAACATCCACTGAATTAAACTGCTGTAAAAAAAAATAAATAAATTCAAAATTAAATTAGGATTTAAAATTTGTGAGAAATGTCACCAGCAGTTTACAGAACAAGCAAAACATTTATAAAAAATGTGATTGTTAGTACATGTAAATGAAGAATTTTCATTTTCAGTATTTTCAAATTTTTAATTCTCTTCATTTTCCCACATAGCCTTACATCTTATGTTCACATATTTGTCTTATTTTTGCAGAGAGTGTCTGAATCGGGTATGTGCTTATGACATTAAAACGCATCAATGGAAAGACCTTGCTCCATTAAACACAGCACGCTCGCTCTTCGGGGTCACAATCCACAAAAACAACATCTACGTGGTGGCTGGTGTTACTGACTCAGGCCTCACGGGCAGCGCTGAGGTCTATGACATCAAAACCAACAAG[T/C]AAGTGTTTCCACAATACGACCAAACAAACGCCTAGAAAGAACATGTGTAAAACAACAACAACAAAAGGTATTAGTTATATGACAAGATATGCTATTTGCTAGCTGGTTTCAAGTTAGTTTCAGTGGTTTGAAGGAAATTTGCTAGTGAATGGAAGTCCATCCTATACACCAACAAGAAGATTACATAGTTTTCAATCCTTCAACTGTATTCCTGACAGTAGACCTACTTGTATTGTTTCTTCTTAGCTATGTTGTCCTCTCTTGTTTTTTTCCTGCTTTATCTCTTTGTTTCTTACAAGTGTTTGCATATTTATAGGTGTGATTATGCTTTTTTTTTTCTATTTTTAGGTGTGACTTTTAACATTCTGTCAAGGGTCTACAGATGAAAAATAGCCATTATTGGCTAATTCTGGCACAGTAATGTAACTCTTTACAGTAATGTTGATTAATATGCAAAGCCCCTTTTAACAACTAAACTAAACTAAGAGGGTGAAGGCAGG

Associated Phenotype:

Not determined