TTBK1 (1 of 2)

Ensembl ID:
ENSDARG00000056019
Description:
tau tubulin kinase 1 [Source:HGNC Symbol;Acc:19140]
Human Orthologue:
TTBK1
Human Description:
tau tubulin kinase 1 [Source:HGNC Symbol;Acc:19140]
Mouse Orthologue:
Ttbk1
Mouse Description:
tau tubulin kinase 1 Gene [Source:MGI Symbol;Acc:MGI:2147036]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa1130 Nonsense F2 line generated During 2014
sa21939 Nonsense Mutation detected in F1 DNA During 2014
sa7291 Essential Splice Site Mutation detected in F1 DNA During 2014
sa19008 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa1130
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023981 Nonsense 281 1162 8 20
Genomic Location:
Chromosome 11 (position 31563284)
KASP Assay ID:
554-1041.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCGTCAGAGTTTAATGTCTTCCTGGAGCATGTTTTAGCCCTTGACTACTA[T/A]ACCAAACCAGACTATCAGGTACCTACAAACTACCTACACATTTAGTATTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21939
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023981 Nonsense 538 1162 12 20
Genomic Location:
Chromosome 11 (position 31581763)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGGACTTCGACAGCAAAGAGTGGGTGATCATAGACAAGGAAATGGAGCTC[A/T]GAGACTTCCACCACCTTCCAGGAGCCGAACCTACCACTTCCGGCACGACG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7291
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
A > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023981 Essential Splice Site 658 1162 15 20
Genomic Location:
Chromosome 11 (position 31585125)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAGCGATAAAACAATGAGGTCSTCTGTAGCACATCCTGGTGTTGTCTTTA[A/C]TAGTGTTGTCCCAATACTGAGCTTTCAAGCGGAACTKTTTAAGCGGCGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19008
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023981 Nonsense 1128 1162 20 20
Genomic Location:
Chromosome 11 (position 31598249)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCTGGAGATGAGCCCAAGAGACCTTCAGAGACTCTTTCTACTACAGGCT[C/A]GGAAGAAGATGTTCTTGAATCTGATGATTCCCTAAACAAGCTCAAGAAGG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/3s1nmf5n