Busch Lab

ZMP

LOC559568

Ensembl ID:
ENSDARG00000061473
Human Orthologue:
TBKBP1
Human Description:
TBK1 binding protein 1 [Source:HGNC Symbol;Acc:30140]
Mouse Orthologue:
Tbkbp1
Mouse Description:
TBK1 binding protein 1 Gene [Source:MGI Symbol;Acc:MGI:1920424]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa22118 Nonsense Available for shipment Available now
sa42048 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa16147 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa22118
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087696 Nonsense 27 632 1 9
Genomic Location (Zv9):
Chromosome 12 (position 30165459)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 28502396
GRCz11 12 28617298
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTTGGGGGGCAGCGAGGGTCTGAAAGAAGACGGCTGCGGGGTGGGCTG[G/A]TCCAACTCTCCCTTATCAGACGACATGTATTCGGCCTCCCAATTCGCCCT
Long Flanking Sequence:
ATAATGTTTTGTACAAATAAAACTTTTTTTTTTTGTATAAATGTACTTCAAAGGCAAAAACAGTATCCAGATTTGCAGTGAATTATAAGGACTAGAGAAGCTAAAGCACATGTGGTTGACCATGAGAAAACCACTGATTGACCTTCAGTGAAAATGTTTTGTTTGGTGCGGTTTGGTGGTTTGCATGTATTGTACAATGGCCTAGATGTCATTACTAATAAGTGTTGTTGAGAAAGCAGATAATTATCGAAACTGCGGCTAAGATGGAGCTCATAATGGAGAGAGCATGACACAGAAAACCACTGAAGAAGTGAAGTGAAGAATGCAAGTGAAGATGAAAGAAGTCATGTTTGAAAGATGACTGCTTCACATAAACAACTGTTGTCTTCTTTTTCTCCATCAGGTTGAGGATCAGGTGTCATGGAGTCTCTCTTCGGGGGTCAGCTGGGCTTGTTGGGGGGCAGCGAGGGTCTGAAAGAAGACGGCTGCGGGGTGGGCTG[G/A]TCCAACTCTCCCTTATCAGACGACATGTATTCGGCCTCCCAATTCGCCCTCATCAGTGCCTACCAGGACATCAAGACCCGACTGGCTGGCCTCGAGCGAGAAAACGCAGACATCAAGCGAAAACTCAAGATTTATGAGATAAAGGTAGGAAATGGCTTAAAGATGCTTTAGTTTCAGATAGGAGATATCAGTGGAGGTCACCTTAAATGGCAGTGTACTGTAAACATTAGTTTGTGTTCATCAGATATATTCAGGTTTGTACTTCTGCTAAAATGTGGCAATTTTAGATGCATTTGGCTCTTGTTTAATAATTAAAGATTTACTAACCAATGCAGACCCTCTTGTGCTGTTGAACTTACTAGAAAGACTGAAATTATTGACGGACATACAGTTGTGATTATTGTGGCTGACCACATTATATATTGACTATTCAACCCAGGCTCATTCTGAAAATGTACTTCTATATACATTTCTGGAGAGCGCCAAATATGTCCTAGGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42048
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087696 Essential Splice Site 75 632 1 9
Genomic Location (Zv9):
Chromosome 12 (position 30165605)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 28502542
GRCz11 12 28617444
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGAGAAAACGCAGACATCAAGCGAAAACTCAAGATTTATGAGATAAAGG[T/A]AGGAAATGGCTTAAAGATGCTTTAGTTTCAGATAGGAGATATCAGTGGAG
Long Flanking Sequence:
AGTGAAAATGTTTTGTTTGGTGCGGTTTGGTGGTTTGCATGTATTGTACAATGGCCTAGATGTCATTACTAATAAGTGTTGTTGAGAAAGCAGATAATTATCGAAACTGCGGCTAAGATGGAGCTCATAATGGAGAGAGCATGACACAGAAAACCACTGAAGAAGTGAAGTGAAGAATGCAAGTGAAGATGAAAGAAGTCATGTTTGAAAGATGACTGCTTCACATAAACAACTGTTGTCTTCTTTTTCTCCATCAGGTTGAGGATCAGGTGTCATGGAGTCTCTCTTCGGGGGTCAGCTGGGCTTGTTGGGGGGCAGCGAGGGTCTGAAAGAAGACGGCTGCGGGGTGGGCTGGTCCAACTCTCCCTTATCAGACGACATGTATTCGGCCTCCCAATTCGCCCTCATCAGTGCCTACCAGGACATCAAGACCCGACTGGCTGGCCTCGAGCGAGAAAACGCAGACATCAAGCGAAAACTCAAGATTTATGAGATAAAGG[T/A]AGGAAATGGCTTAAAGATGCTTTAGTTTCAGATAGGAGATATCAGTGGAGGTCACCTTAAATGGCAGTGTACTGTAAACATTAGTTTGTGTTCATCAGATATATTCAGGTTTGTACTTCTGCTAAAATGTGGCAATTTTAGATGCATTTGGCTCTTGTTTAATAATTAAAGATTTACTAACCAATGCAGACCCTCTTGTGCTGTTGAACTTACTAGAAAGACTGAAATTATTGACGGACATACAGTTGTGATTATTGTGGCTGACCACATTATATATTGACTATTCAACCCAGGCTCATTCTGAAAATGTACTTCTATATACATTTCTGGAGAGCGCCAAATATGTCCTAGGAGGTAAGCTTATTTGCAGTTTTTGTTGTCGCAAATCCACCAGAGGCTGCTGTGTATGCTTTTTGAGATCTTAAATTTCTCTCGCGAGTGCCATTCATGCCTGTTTTTATCACATAAATCCACCAGAGGCCACTGTTAACTGACTGAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16147
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
ENSDART00000087696 Nonsense 456 632 8 9
Genomic Location (Zv9):
Chromosome 12 (position 30216518)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 28553455
GRCz11 12 28668357
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACCATACGTTGACAGCTACCACAAGCAGCAGCAGCAACAGCAGCAGCAA[C/T]AACAACAGCAACACGGAGGAAGCCAGCACATGTTAGTTCAGAGACAGAGC
Long Flanking Sequence:
TGATTGTATAATTTGTGAGAAAAGGTTTAGGACAAGGTTCTAGTTGTATTCGTTATTTATGCTTTTTTTTCACTTTTTTCCATGTCATGTTTTTCTCTTGATTTGCTGTTGTAGTTCAGCGCCACTCTCCTGTCCCTCACCAGAGGCATTCGCCCGTTCCACAGCGCCATTCTCCAATCCAACAGCGCCATTCCCCCATCCAGCAGCGTCACTCCCCTGTGCCCCAGCGGCGCTCCCCTGTGCTGCAGCGTCTCTCTCCGGACATGCACCGTCGCTCGCCCCTACCTGAACTCAGTGACGGCCCTGCATCCTATTCCTGCAGGCCTACTTCCCATCACCTGAGGGCCAGTTTCCAGGGAAGACGCAGTTACTCTGAAGTAGCTGATCCATCAGCTTATCAACGTCCTCCACGGTTCACTCTGGACCCGGTGTCCACCCTGCCGAAACCTCGACCATACGTTGACAGCTACCACAAGCAGCAGCAGCAACAGCAGCAGCAA[C/T]AACAACAGCAACACGGAGGAAGCCAGCACATGTTAGTTCAGAGACAGAGCTCTCAGTCTGGGGTTGGAGGCGATGGGGGATTGGTTGAAACTCCACGGCTGTCCAGGGAGTTATCTTTCCACCACTCAGAGGTGTCCCACTTGCATTTCGATCCTCAACCCAGTCCAGCGCCTCTGCATTCATCCCCACAGCCTCCGCAGTCTTCAGAGGATGAGGAGGAGTGGTCCTGCCCTCATCCAATCAGTCCTCCGCGAACACTAGGGGTGTCGAGTCCCTCATCGAGCTCCAGAGGTCCAGCCTCTTGTTCAGCATTCCCTATTCCTTCCCGTCCCAACACCCTAAGCTGCCACCCACCAGGATACCTGCATGCAGAGCACGCCCAGTCTTGGCCATCTATCAATGTGAGTATCCAGTATCCACAGTAATGCCTGTGTGAACTATGTGTATGGATTAGCATAGGTGCAAGGTGAATGATAAAGTAAAATAAGTCGTCTAATTTG
Associated Phenotype:
Not determined