Busch Lab

ZMP

LOC100331590

Ensembl ID:
ENSDARG00000005670
Human Orthologue:
TTBK2
Human Description:
tau tubulin kinase 2 [Source:HGNC Symbol;Acc:19141]
Mouse Orthologue:
Ttbk2
Mouse Description:
tau tubulin kinase 2 Gene [Source:MGI Symbol;Acc:MGI:2155779]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa16939 Nonsense Available for shipment Available now
sa6493 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa15136 Nonsense Available for shipment Available now
sa25047 Nonsense Mutation detected in F1 DNA Not yet available
sa23172 Nonsense Available for shipment Available now
sa11110 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa16939
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000016815 Nonsense 59 1193 2 15
Genomic Location (Zv9):
Chromosome 17 (position 45409857)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 45129039
GRCz11 17 45242804
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGACCYGCACCAGTGTGGCTCTGAAAGCAGAGTCYGCTCAACAACCCAAA[C/T]AGGTTCWGAAGATGGAGGTGGCGGTGTTGAAGAAACTTCAAGGCAAGTTG
Long Flanking Sequence:
TTGTTGTATGTTGCCTTGTTCCAGTCCTGATCCCCGCCAGCCTTTCATCCTAGTTTGTTTTGATTTTTTATTTGTTTTATTAGTGTTTTCCCCCTCGGGGTTGTTTATTTTGCCTTTTATTTTATTTTATTAAGAATAAATATTCATTCACTCTGCAATTGGGTCCTCGCTCCTTTTTCCCCAACCCTATTCGTGACAACACAGTTCTGTCCAAACAGCTTACAAAAGTTCATCAGAGGTGTCCCTTTAAATCATTATTAAAATCTCAATATATATATTTATATGGTATAATCTGGACTGGCATTTGTTATCTAAACGTAGCTTTAGTTAATTCAGAAAAAATATTCAGCTAAAGAACTGTTTTTAACTTCTTATATTTGTGCTTTTTACCTCAGCTGAAAAAAATTGGCGGTGGCGGCTTTGGCGAGATCTACGAGGCTCTGGATTTGATGACCCGCACCAGTGTGGCTCTGAAAGCAGAGTCCGCTCAACAACCCAAA[C/T]AGGTTCTGAAGATGGAGGTGGCGGTGTTGAAGAAACTTCAAGGCAAGTTGTTAAGTAACGTAGATAGATATTTCTTTTTTAAATGAATTCTTTATAAAATTGATCACAGTTTCCCACAAAAACAATATTAGACAGCACAATCTTTTTCAGCAAATCAGAAGCCTGGACTAATTATGCAAGATAATTAAGCATTGCCGTCACAAGATTAAATTACTATTAAAATATATTGTGGAAATCTGTTTATTCACTTTTTATGCAGTAAATCCCCCCCAAAAATCATTAATCTTACTGAGTTCATCCTGTTTTGCTATTTTCTTGATAAAAGCTTTGAAAGATAAAACATTTTTCACTATGTTTTGAATATTATTTATGCATTACTGGATATACAGTATTTAATGTACATTTCATCTCAGCTACATTTCAGTTTGCAGCATTTTGCTCCATACTTTAATGGTTAGGATTCAAAGAAGGAGTCTCAACAGCTTCACAGAGAGGAAGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6493
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000016815 Essential Splice Site 201 1193 6 15
Genomic Location (Zv9):
Chromosome 17 (position 45402806)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 45121988
GRCz11 17 45235753
KASP Assay ID:
554-4435.1 (used for ordering genotyping assays)
KASP Sequence:
GTTTAGGGGTACAGTAAGATACGCYTCGATCAACGCACACAAGAACAAGG[T/G]ACTGTAARAATCCCACRTTTACCATGTTGTTGCTTCACAATCTCATCAAT
Long Flanking Sequence:
GGGTACAGGGATACTGGAGCCTTTTAAAGCCGCAAAGATCAGCTGGTCTGTTTATAAGTTGACATACGAATGATCCGCTGATGAATCGACGGATGCTTACGGCTTTAAAGCGCTCAAGTGTCCCTATATGTGGTTACACCCAGTAAATAGTAGTGAGTTTGGTAAACTGATGACCTTCATGGCCATTCACAGTAATTTCTGTTCCGTCTTATTGTAATAAATGTCTTGTTCACACTGTTTTCAGTCCAACTTTGCCATGGGCCGATTCCCGAGCACATGTCGAACTTGCTACATGTTAGACTTTGGTTTGGCGCGCCAGTTTACAAACTCCTGTCAAGAAGTCAGACCGGTCAGTATTAATCAGTCACAAATAGTCTTTCTGAATGTTTGTTTGAGCATTTTTTTGTATTGTAAGATTCTTTTCTCTCTTTAGCCGCGTCCTGTTGCAGGGTTTAGGGGTACAGTAAGATACGCTTCGATCAACGCACACAAGAACAAGG[T/G]ACTGTAAGAATCCCACGTTTACCATGTTGTTGCTTCACAATCTCATCAATTGTTCTTTTAACCGGGATAATTCTGGTCTGATCAGGTATATTTTGATCATATTGTTCCAGGAAATGGGCAGACATGATGACTTGTGGTCTTTATTCTATATGCTGGTGGAGTTCTTAGTTGGTCAGTTGCCCTGGAGGAAAATCAAAGACAAGGTGCTGATCAGGCTGGAAGGAGAACCAGCTATGAAAGCATTTTCTTGTCTGTTGGGATGTAATGATGATGATGATGAAATCTGCTTGTTTATGCATTAGGAGCAAGTGGGAAAGTTAAAAGAGACGTACGATCATCGGCTTATGTTGAAACACCTGCCCCCACAGTTCACTGTCTTTCTGGACCACATCAGCAATCTGGACTACTTTACCAAACCTGACTATCAGGTAAAAAAAAAAATCAAGAGAATGTTGAATTATCTACTGTAATAATGTTCAATCTGACATAAATATAATCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15136
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000016815 Nonsense 295 1193 9 15
Genomic Location (Zv9):
Chromosome 17 (position 45402233)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 45121415
GRCz11 17 45235180
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTTTCGAGAATAGTATGAGAACCTACAATGTAGTGGAAAAYGACCCATA[T/G]GATTGGGAAAGGATAAGCTCAGATAGCCCAATGACAATCACYGCAACGGC
Long Flanking Sequence:
CTGGTCTGATCAGGTATATTTTGATCATATTGTTCCAGGAAATGGGCAGACATGATGACTTGTGGTCTTTATTCTATATGCTGGTGGAGTTCTTAGTTGGTCAGTTGCCCTGGAGGAAAATCAAAGACAAGGTGCTGATCAGGCTGGAAGGAGAACCAGCTATGAAAGCATTTTCTTGTCTGTTGGGATGTAATGATGATGATGATGAAATCTGCTTGTTTATGCATTAGGAGCAAGTGGGAAAGTTAAAAGAGACGTACGATCATCGGCTTATGTTGAAACACCTGCCCCCACAGTTCACTGTCTTTCTGGACCACATCAGCAATCTGGACTACTTTACCAAACCTGACTATCAGGTAAAAAAAAAAATCAAGAGAATGTTGAATTATCTACTGTAATAATGTTCAATCTGACATAAATATAATCTCTCCACTCTAGCTGCTGAGAACTGTTTTCGAGAATAGTATGAGAACCTACAATGTAGTGGAAAACGACCCATA[T/G]GATTGGGAAAGGATAAGCTCAGATAGCCCAATGACAATCACCGCAACGGCGAACACACCCCAGCACCACACACGCCTCACACCGGCTCAGATGGGGTAAAACATATGACTGCTTCATGTTTAATTGTATTCTTTCAAACATTTGCATTTTTAGTTGCGGAATCCCCTTGAAGAGTTCTCAGGTGCTTCCTCTCTCTTCTAGCATTATTAATAACTCCTTGGTGCCTGGAGATCTTCTCAAGGAAAACACTGAAGAAGTTCTGCAAGACGAGCATCTCAGTGATGGAGACAATCCTCGGCCCGAGAATCTCCTTGGATCTCCGAAACTTCCTCTCAGGAACCAGGAGATTGATGTCTGGGAGGACTTGGACCGCAACCGGAACAGAATCAGTCCTGCTGTCTTGAAGGTACCAGAATGAAGTCATTCATCAAAATATTTCTCCATTGATACATGTTTTAAATTCTGCTTTCATTCCTTTCCAGATAGGAACTGATGATGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25047
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000016815 Nonsense 822 1193 14 15
Genomic Location (Zv9):
Chromosome 17 (position 45395903)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 45115085
GRCz11 17 45228850
KASP Assay ID:
554-7324.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGGCTGCTTTCCAGCTCACTAACCTTGTGAATGTTGAGGTGGATCCTT[T/A]GCTAAATGGGAATGGCCATCAGAAACCTTCAAGCCCAGTGCCAAGCCTGA
Long Flanking Sequence:
GACGTAATCAAAACCCGGCAAGAATGTCATATTATTTCACCATCTGTACACCAAAATAAATAGTAAATGTCCATGTCCGTGGGTGGATTGTGTCGGTGTGGTAATGTGGGCTGATGTGGCTACAGTGCCAGGGCTGAATTTTTGTCCCAGTCCGCCCCTTGTGTGGTTTGTCAGACATCGATTTTTATCTGCATGCAAGCATGTTTGGTTAAGCATTCGCATCAAGATGAATCTTAATAGTTTTCTCCTGGTTGACATCGTGAATCTGTGTGATGATATATACATATGCTAATTTTCTCTGTCCCTTTCTCAGCTGACAGCTCAGCGACCCTCTGCGATGTCCTCCCAATGCGCATCTGACTGCGGTTCACTGGAGAGGCGTGATACTGACAATGGTAACAATGGGATGCATCCACAAGACAACACAGCTGACATCAACTCCCCACAGGAGCAGGCTGCTTTCCAGCTCACTAACCTTGTGAATGTTGAGGTGGATCCTT[T/A]GCTAAATGGGAATGGCCATCAGAAACCTTCAAGCCCAGTGCCAAGCCTGATCCCGTCTCCACGCACTCCTCCTTCTCCACGCAGTCCGATTCTAATGAACGGCTGTCATACGCCACCTTCAGACACACGAAGAAATGGCAACGAGCAGCTTCAAGTACTAAAAGACCTCAACAGTGACTCTCTAACCCTCGAGCATGTGAATGATCCCACACTGGAGGAGGGCAAGGAGAATGCTCCTGCTACTAATGGCCACTCTTCTCCAGCCTCCACTCCCAAACAAGACCCCAGCCGTCGGCACAGCCGCATCCCAGTGTTTGAACCGTCTAGCATCCTAGATCCCCCACATGGATCTGCTAAAGAGAAGCTGCTCCAGAGGAGGGTTCACCACTTTCCACTCTCCCCCTCTGCTTCCCCATCGCTGTCCTCTGACAGGCGGGCCATCATGATTGCCATGCAGCGGGACCAGATATCTTCTGCCTCTTCTGAACGCTCTCAAGATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23172
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
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000016815 Nonsense 829 1193 14 15
Genomic Location (Zv9):
Chromosome 17 (position 45395883)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 45115065
GRCz11 17 45228830
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTAACCTTGTGAATGTTGAGGTGGATCCTTTGCTAAATGGGAATGGCCAT[C/T]AGAAACCTTCAAGCCCAGTGCCAAGCCTGATCCCGTCTCCACGCACTCCT
Long Flanking Sequence:
AGAATGTCATATTATTTCACCATCTGTACACCAAAATAAATAGTAAATGTCCATGTCCGTGGGTGGATTGTGTCGGTGTGGTAATGTGGGCTGATGTGGCTACAGTGCCAGGGCTGAATTTTTGTCCCAGTCCGCCCCTTGTGTGGTTTGTCAGACATCGATTTTTATCTGCATGCAAGCATGTTTGGTTAAGCATTCGCATCAAGATGAATCTTAATAGTTTTCTCCTGGTTGACATCGTGAATCTGTGTGATGATATATACATATGCTAATTTTCTCTGTCCCTTTCTCAGCTGACAGCTCAGCGACCCTCTGCGATGTCCTCCCAATGCGCATCTGACTGCGGTTCACTGGAGAGGCGTGATACTGACAATGGTAACAATGGGATGCATCCACAAGACAACACAGCTGACATCAACTCCCCACAGGAGCAGGCTGCTTTCCAGCTCACTAACCTTGTGAATGTTGAGGTGGATCCTTTGCTAAATGGGAATGGCCAT[C/T]AGAAACCTTCAAGCCCAGTGCCAAGCCTGATCCCGTCTCCACGCACTCCTCCTTCTCCACGCAGTCCGATTCTAATGAACGGCTGTCATACGCCACCTTCAGACACACGAAGAAATGGCAACGAGCAGCTTCAAGTACTAAAAGACCTCAACAGTGACTCTCTAACCCTCGAGCATGTGAATGATCCCACACTGGAGGAGGGCAAGGAGAATGCTCCTGCTACTAATGGCCACTCTTCTCCAGCCTCCACTCCCAAACAAGACCCCAGCCGTCGGCACAGCCGCATCCCAGTGTTTGAACCGTCTAGCATCCTAGATCCCCCACATGGATCTGCTAAAGAGAAGCTGCTCCAGAGGAGGGTTCACCACTTTCCACTCTCCCCCTCTGCTTCCCCATCGCTGTCCTCTGACAGGCGGGCCATCATGATTGCCATGCAGCGGGACCAGATATCTTCTGCCTCTTCTGAACGCTCTCAAGATGACGAGTCGCTTATGGGATCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11110
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
ENSDART00000016815 Nonsense 865 1193 14 15
Genomic Location (Zv9):
Chromosome 17 (position 45395775)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 45114957
GRCz11 17 45228722
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CACGCAGTCCGATTYTAATGAAYGGCTGTCATACGCCACCTTCAGACACA[C/T]RAAGAAATGGCAACSAGCAGCTTCAAGTACTAAAAGACCTCAACAGTGAY
Long Flanking Sequence:
CAGGGCTGAATTTTTGTCCCAGTCCGCCCCTTGTGTGGTTTGTCAGACATCGATTTTTATCTGCATGCAAGCATGTTTGGTTAAGCATTCGCATCAAGATGAATCTTAATAGTTTTCTCCTGGTTGACATCGTGAATCTGTGTGATGATATATACATATGCTAATTTTCTCTGTCCCTTTCTCAGCTGACAGCTCAGCGACCCTCTGCGATGTCCTCCCAATGCGCATCTGACTGCGGTTCACTGGAGAGGCGTGATACTGACAATGGTAACAATGGGATGCATCCACAAGACAACACAGCTGACATCAACTCCCCACAGGAGCAGGCTGCTTTCCAGCTCACTAACCTTGTGAATGTTGAGGTGGATCCTTTGCTAAATGGGAATGGCCATCAGAAACCTTCAAGCCCAGTGCCAAGCCTGATCCCGTCTCCACGCACTCCTCCTTCTCCACGCAGTCCGATTCTAATGAACGGCTGTCATACGCCACCTTCAGACACA[C/T]GAAGAAATGGCAACGAGCAGCTTCAAGTACTAAAAGACCTCAACAGTGACTCTCTAACCCTCGAGCATGTGAATGATCCCACACTGGAGGAGGGCAAGGAGAATGCTCCTGCTACTAATGGCCACTCTTCTCCAGCCTCCACTCCCAAACAAGACCCCAGCCGTCGGCACAGCCGCATCCCAGTGTTTGAACCGTCTAGCATCCTAGATCCCCCACATGGATCTGCTAAAGAGAAGCTGCTCCAGAGGAGGGTTCACCACTTTCCACTCTCCCCCTCTGCTTCCCCATCGCTGTCCTCTGACAGGCGGGCCATCATGATTGCCATGCAGCGGGACCAGATATCTTCTGCCTCTTCTGAACGCTCTCAAGATGACGAGTCGCTTATGGGATCTCGTTCTGATCGTCATGGAGATGACGCCCTCTCACTGTCCTCATCCTCCAGCCCACTTTTACGAAAGAGCAAGATACCTCGGCCAGTTACCCCAACATCTAGCATGGAA
Associated Phenotype:
Not determined