Busch Lab

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
sa44122 Nonsense Mutation detected in F1 DNA Not yet available
sa12141 Nonsense Available for shipment Available now
sa30083 Nonsense Mutation detected in F1 DNA Not yet available
sa11326 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa44122
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000010488 Nonsense 127 618 1 6
Genomic Location (Zv9):
Chromosome 24 (position 21184135)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 20431264
GRCz11 24 20575683
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTAACATGCTTCAGATCCCGTCAATATTCACTGTATGTGTCTCGTTCCTG[C/T]AAAAGCGCCTGAGTTTGAGCAACTGCTTAGCCATTTTTAGATTAGGCCTG
Long Flanking Sequence:
CAGCTGATGAATCCCGGAACTGACTGAGCCCTGACTCCTTTCTCCACCAGAAGCAGAAGTGTGCTACCTGTACAGACATTCATTGACTTCAGTGGGACACTAAGGGATTGAAGACAGTCAGCATGGCTCTACCCATAGACCCAATGGAGGAGCCGCGAATGTACCAGCAAACCTTGCTGCAGGACGGCCTGTATGATCTTCTGGAGAGTGATATGATGGTTGATTGTGTGTTGAAGATAAAAGACAAGGAGTTTCCCTGCCACCGGTTGGTCCTGGCGGCCTGCAGCTCCTACTTCAGAGCTTTCTTCAAATCAGGTGTGGAGGAGAGCAAACAGCGAGAGATTGTTTTGGAGGACGTGGAGCCTGGAGTCATGGGAATTATCCTGAAGTACCTCTACACCTCCAACATCAATGTGACAGAGCAAAACGTTCAGGACATCTTCGCCTTGTCTAACATGCTTCAGATCCCGTCAATATTCACTGTATGTGTCTCGTTCCTG[C/T]AAAAGCGCCTGAGTTTGAGCAACTGCTTAGCCATTTTTAGATTAGGCCTGATGTTGGATTGTCCTCGTCTTGCCATATCGGCGAGGAACTTTGCTTGCGAGCGCTTTCAGTTTATTACTCGGGATGAGGAATTCCTGCAGCTGACTCCAAGCGAATTGGCGGCAGTTTTGGCATCAGACTCTTTGAACGTAGAGACGGAGCAGGATGTTTTTGAGGCTTTGATCAAGTGGGTTGGACATGACCAAGAGAACAGAATTGGGGACTTACCAGATCTGCTGGACTGCATCAGGCTACGTCTGGTTCCTCGGGACTACTTTGTCAAAAATGTGGAGAAACATGAGTGGTTGAGCTCGAATCCTGAGATCACTAAGAAACTCCAACTGGTCAAAGATGCCCATGCGGGGAAGCTTCCGGAACTCAAGAAAACCAAAAACAAAAAGAGTCCTAGTGAGGAAGGACAGAAGAAGGGAGATGAAGAGGAGGTGGAGGAGGAGGAAGAG
Associated Phenotype:
Not determined

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:
Order Allele From ZIRC
Order Allele From EZRC
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:
sa30083
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000010488 Nonsense 414 618 2 6
Genomic Location (Zv9):
Chromosome 24 (position 21186936)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 20434065
GRCz11 24 20578484
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGCTTCCTGTTTGGGATGGGTGAAGCCGAAAACTTCATCTTTGTAATT[G/T]GAGGAAGAGAAATGAAGGAAGGAGAAAACATTTTGAACACAGTTATGGTT
Long Flanking Sequence:
TGTGAACATATTGTCTGCTAATTACACAGTTAAAGTAGTTCCAGGCAGGATTTGACCACATTAAAGGTCCATATCCCTACACTGAATTACAGTTACTTCACAGTCAAAACTAATGGCTTTGGAAGAGATTTGTAAGAATCTAAACACACAAAGCCAGATTGAGGAAGAAACAAAAGAAACAGCATCTGAACAATGATTTAGGTGTGGTAACTGTATAAGCAGAATAATTGACTCCAGTTCATTGAATTATTAGAAAATAAACAGATGAGAATTATTGTATTTATTTTAACCCTTTTCACCATGTTATTCCTGACATAATTCTAATTTTGATGGGGTCTTTAAATGATTAGCAAACTCTCACATAAATGTGAGTAATGTTTACAACACTGTCATCTTTACAGTTCGACCCTGCATCGTCTGACTGGATGGGAATGCCTCCAATACCCTCCCCTCGCTTCCTGTTTGGGATGGGTGAAGCCGAAAACTTCATCTTTGTAATT[G/T]GAGGAAGAGAAATGAAGGAAGGAGAAAACATTTTGAACACAGTTATGGTTTACGACAGACAGTAAGCATATTTTAGTCAGTTGAATATTGTTTTTTATTATGTGTTTTTTTATCATGAACTTTTCAGACTACAACAAATAATGCAGTTTTTTTTGTATTAAGGTTTCTTAAATGGGCTGAGTCAGATCCTCTTCCCTACCTAGTGTATGGCCATGGAGTTGTGTCTCATAATGAAATGATTTATGTAATCGGAGGAAAAGGAGAAAACAAGTAGGTTTATTTGTGCAATCTAGAGTAGGAATATGTATTTAATATCAGTCAAAAAGTTTGTATTGGAATTTTTTTTATATTTTTGAAGTGTCTTATGCTCACCAAGGCTGCATTTATTTGATCCGAATTACAGTAAATGAAGTAATATTTTAAATTTAATATAATATTTTTTATATATTATTTTTGAAATGTATTTTAAAAATTTTATTTATTTTTGTAATGGAAAAGCT
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