ZMP

IBTK

Ensembl ID:

ENSDARG00000074424

Description:

inhibitor of Bruton agammaglobulinemia tyrosine kinase [Source:HGNC Symbol;Acc:17853]

Human Orthologue:

IBTK

Human Description:

inhibitor of Bruton agammaglobulinemia tyrosine kinase [Source:HGNC Symbol;Acc:17853]

Mouse Orthologue:

Ibtk

Mouse Description:

inhibitor of Bruton agammaglobulinemia tyrosine kinase Gene [Source:MGI Symbol;Acc:MGI:1918677]

Alleles

There are 5 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa15648	Essential Splice Site	Available for shipment	Available now
sa15518	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa15648

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 > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000114642	Essential Splice Site	1266	1349	31	33

Genomic Location (Zv9):

Chromosome 16 (position 5837583)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	5063507
GRCz11	16	4892665

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TTTTARTTCTGCCAGTATWAACCCCACTAGCGCTACTAAATCAGCATCYG[T/A]AGGTCATTCATGACAGCWGTGCTCRTGTTGTCYTAACTTGCTTGAGCTGG

Long Flanking Sequence:

GGAACCAGTCACCTTCTTAGGCAAGACAAGGCAAGTTTATTTATATAGCACATTTCATACACAATGGCAATTCAAAGTGCTTTACATAAACAAGAATAAAAGAAACAAGTAAAATTAAAATAAAAAATGATCTTACTGATCATGCTACCCACTGTGCCACCGTGACACCTATCCAAGGCTCAAAAAACCTCATTCTTCAGTGCTGAAGTGCGCTCGCTTTTGCGATTTAGCTGTAGAACTTCTGATTCAGTTGCCGACTGGAGAAATGACCCGGGAAAATAAACAACAGAAAACGGTCTAGCTACTTGCTCTACAAACAAGTGTGTTTATGACTATACGTACACATAGAATAATATAATAAGAAAATATCCATTGCAGCTTAACAAGCTGACAAAAAATACAGAATAATAAAACTGACCCAACTTCAACATCAACTTTCATTTTCTTTTCTTTTAATTCTGCCAGTATTAACCCCACTAGCGCTACTAAATCAGCATCTG[T/A]AGGTCATTCATGACAGCTGTGCTCGTGTTGTCTTAACTTGCTTGAGCTGGTTTGATCATTGTTTATTTACTCAAAGCCAGTGTCAGGAGCAGTTTGTCTGATTCAGGGTGTGATGTTGAGTGTGTGCGCGAGTGTTTTCTGTCGGCTCTGTTCTGTAGGTGTGTGTGTGTGCCGTAAAGCCTCATGTTTCTGACTCCAGCACTCTGAATATTTATCATCAGTTCTACTGGCCGCCTCTGATTGTAATCTCTATTGATAAGGGCAAACTTTGTCACAAACACTCTCATCCCGGCGGCTCCACGTCATCTGTGTTTATGAGCTCTAGCTGAGCACACTAGAGAAAGTCACTTGCGCATCGCTGTTTTGAAGTCAGCTGCTTTAGTTTCAGATTTAAATTTTTATCGTTGACTTTAAAAAAATATATAGAATTTACTTATTTACTTATATTTATATTCTTATATATTTACTTTTTTTTGCTTATTTACTTAGTAAAAATGTAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa15518

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 > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000114642	Nonsense	1336	1349	33	33

Genomic Location (Zv9):

Chromosome 16 (position 5840396)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	5066320
GRCz11	16	4895478

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CCATTACAACGCATTTAACAAYCCAGATGAGCTGATACTRGTGGAGAGGK[C/A]AGATCAAGGCCCAGTSGCCACCCCRACCTGGAACAAACACTGAACCCTCA

Long Flanking Sequence:

TTCAAGTATTTTCCAAAATATGTTTGATGGAGCAAGGGATTTTTCACAGTATAATATTTTTTCTTCTAGAGAAAGTCTTATTTGTTTTATTTCTGCAAGAATAAAAGCAGTTTTATTTAAAAAATAAATAAATAAATTTAATCATTATACAATGATTGCCTAATAAATTTAACCTGCCTAATTATCCTAGTTAAGCCTTTAAATGTTGAATACTAGTTTCTTGAAATATATTGAAATATAAAAGATAAAGGAAGTGAGTTATTTAAAATGAGTTATTAAAACTATGAGTTTTAGAAATGTGTTGAAAAAATCTTCTCTCCGTTAAACAGAAATTAGGGAAAAAATATACAGGGGGTCTAATAATTCTGACTTCAACTGTCTGTTTCCTATGTTGACCTTTTTTTCATCTGTATGATAGATTGAAGAACGAGCCGTTCAGGACCTGTTAATCCATTACAACGCATTTAACAACCCAGATGAGCTGATACTGGTGGAGAGGT[C/A]AGATCAAGGCCCAGTCGCCACCCCGACCTGGAACAAACACTGAACCCTCACAGTAACCATCACACTTACACCTAGGATTACAGCAGTATTCATCTGTGTCAATCTGAGTTCTGTTTCCCAACATTGTTCTGCATTAGCCACACTCGTTTAACTCTACTGCTTTAACTCTGCTGTTTCCTCTTGAGAATATGAAAGAGAAACTCTGGAGAGTCGCCACATGTGCCAAAATATGTTTGCTGCATCGTTTCTCTCTTTATTTTTTTATGATCCAGTGGTTTAATGATCTGCATCTCACAGGTAGTGTGTGTTTTTTTGCAGATTTAACACGCATATCGCTACGAATCGGTGTTAATTTTGTCAATGAAAATAAGGTGGCAAAACGTTCGCTTATAGCTTAACACATACAGGTCATTTGCACTAGACGCGGTCACCGATCTGCTTATTTAATGAATGAACAAGGTTATTGTTGACGATAAACAGATAAAAAGACTAAAATGTAG

Associated Phenotype:

Not determined