Busch Lab

ZMP

tbc1d1

Ensembl ID:
ENSDARG00000062081
ZFIN ID:
ZDB-GENE-060710-1
Description:
Tbc1d1 protein [Source:UniProtKB/TrEMBL;Acc:Q29R86]
Human Orthologue:
TBC1D1
Human Description:
TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 [Source:HGNC Symbol;Acc:11578]
Mouse Orthologue:
Tbc1d1
Mouse Description:
TBC1 domain family, member 1 Gene [Source:MGI Symbol;Acc:MGI:1889508]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa32643 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa8796 Nonsense Mutation detected in F1 DNA Not yet available
sa18692 Nonsense Mutation detected in F1 DNA Not yet available
sa32642 Nonsense Available for shipment Available now
sa32641 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa32643
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
ENSDART00000089294 None None 1057 None 20
ENSDART00000089328 Essential Splice Site 68 658 None 13
ENSDART00000133194 Essential Splice Site 69 1253 None 23
ENSDART00000147525 Essential Splice Site 69 1213 None 22
ENSDART00000147645 Essential Splice Site 69 1180 None 21

The following transcripts of ENSDARG00000062081 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 17513929)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 18079097
GRCz11 1 18772034
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGGAGAAGAACAGAAACCTTGAGTTCAATGGCAATTACTCTCCCGAGG[T/G]CAGTGTAATTCAAATATGTTGGGTGTAATGTAAAAAAGATATGAAATATT
Long Flanking Sequence:
AATCATTGGAGGCTAACTATTTTCTGCCCGTGTACTTCTGTCACAAGGGCTTTCAGAAAAGCTATTTGAATCCCTGCAAATGGCAAAGTTGAAGAAGATGCCACTCGAAAGGATTCGGTGAAGCAATGAAGCCACAGTGTGTTTCACTCTTAAGATAAAGCTACTCCATTAATGCATTTTTCTTTGGTCTTTCTAATTAGTTCCTCATCTTTATATTTGGAGCATGGAGGGCATTTGTTTCGAGGTGAAACCCAGAGATGACTCAATAACAGCTCATCCCCTCTGTGACCTTACACAAACATTTCCTGGATCAGAGGAGAAGAGGAAGAAAGAGGATGGGGAAGAGGTGATCCAGTACAGACCGACTCTGGTTGGATCTTTGGCCATCCATCCACAGACCACCATGGCCATACTCCCCTGGGTGGTGGCTGAAATACGGAGGCCCGGGGTCAGGGAGAAGAACAGAAACCTTGAGTTCAATGGCAATTACTCTCCCGAGG[T/G]CAGTGTAATTCAAATATGTTGGGTGTAATGTAAAAAAGATATGAAATATTCCCATAAAGCATCATTTTATAAATATACTATTAAGAAATGCGTTTGAAAACTGTAATGGGTACACTGTTAATAATTTTCTATGGAATCTGCAGTAACTTACCTGGAAGCAGTTCACCAGTATTTTACTGTAGATGAATTACAGCAAAAGTACTGTATTTATATATAAGGCACCGTTTATCTTGCTGCATAGGTATTTAAAGTATTTTATATCTTCACAGTAAAATATACAGTAAAATACTGCATAACTGTCCTAGAGTAAAATACAGTTATAGTTAAATACTCTGTAATTAACAAAACCGATAACAGTGTAGGATTTTGAAACATTCAAAAGAAGTTTCTCATGCTTCTCACGCATTTAAAATGGATTAAAAAGAGCATTATTGTGAATAAAATATTACAATAATATTAGTAATATTGATACTAAATATTCTGGTAACTAAAGCTTTAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8796
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
ENSDART00000089294 None None 1057 None 20
ENSDART00000089328 Nonsense 132 658 2 13
ENSDART00000133194 Nonsense 133 1253 2 23
ENSDART00000147525 Nonsense 133 1213 2 22
ENSDART00000147645 Nonsense 133 1180 2 21
ENSDART00000089294 None None 1057 None 20
ENSDART00000089328 Nonsense 132 658 2 13
ENSDART00000133194 Nonsense 133 1253 2 23
ENSDART00000147525 Nonsense 133 1213 2 22
ENSDART00000147645 Nonsense 133 1180 2 21

The following transcripts of ENSDARG00000062081 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 17511981)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 18077149
GRCz11 1 18770086
KASP Assay ID:
2259-0400.1 (used for ordering genotyping assays)
KASP Sequence:
TCATTCACAACAGCCAAGAGCCCAGCTATTTTGGCTGTCTGCTCAGAGAG[G/T]AGAAAAAARCAGCCTGCTATGTATTCCGCTGCCAGGACCAGCTGAAGGTA
Long Flanking Sequence:
TGTGGTTGACTGATTAGAAACTTGCCATAACGAGCAGTTGGACAGGTTTACCTAAACAAGTGGCTAGTGAGTGTATTTTTATAAGCAGGTAAATAAAGATACAGTACATAAAGTTGTCTGATACGCTAAATGAAGATGGCATATTGTTTCAACATTATTTTGACATTTTACTTTTTTACAAAAAAAAAAAAAAAAGATTTTTTTGGTAAATATTTTCTCATATTTTCAAATGAGATTTAAACATAATGGAATATCTTAATACCACCATTAAACTTTTTGGTGAAAGAGTTTTTTCTCTTTTATGATCCAAGATTCGAGATCAGCCAGTGGTGCTTCAGATTTCAGCCAGTTCCGTGTGCTGCATTCTGGACACGGCAGGCCCAGGGAAGCCATGGAACCCGTTGCAACATATGGTTCTGTTTGATCATAGGCCTCATCATGTCACCAAACTCATTCACAACAGCCAAGAGCCCAGCTATTTTGGCTGTCTGCTCAGAGAG[G/T]AGAAAAAAGCAGCCTGCTATGTATTCCGCTGCCAGGACCAGCTGAAGGTAAGGGATGTTTAGATCTTATCCACCTTTTTCCTACATCCCGTGATGCTTTGCGTGAATTATGAGAGTAATGTTCATTTAACTGTAAACTGTTTTTAAAACCGAGCTGCAACTATTCTCACAGTTCATCCATCAAATCTTAAAAGGAAACCAATTTGAATTAAAAAATTACCGTCAACAGGTCAGAAATAACCACCAAAACCTGAAACTAGTCATTGTACAGCAATATTACAGATTTGCTAAATATTACTGTATTATAATGAATACAAAAAGAGAACATAAACTGAAGAAAAAAACACAGTTTTTGTAGAACACGAAACAAGATATTCTGATGAATGTTGGAAGAAAGCAGAAACTGGCATAAAAAATATTATACAAGCTAATGTCTGTTTTTCCAAAAAAGGTTTGGAAAAAGTGGACATTAAGTAAATGATGACAGAATTCTCATTTTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18692
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
ENSDART00000089294 None None 1057 None 20
ENSDART00000089328 Nonsense 132 658 2 13
ENSDART00000133194 Nonsense 133 1253 2 23
ENSDART00000147525 Nonsense 133 1213 2 22
ENSDART00000147645 Nonsense 133 1180 2 21
ENSDART00000089294 None None 1057 None 20
ENSDART00000089328 Nonsense 132 658 2 13
ENSDART00000133194 Nonsense 133 1253 2 23
ENSDART00000147525 Nonsense 133 1213 2 22
ENSDART00000147645 Nonsense 133 1180 2 21

The following transcripts of ENSDARG00000062081 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 17511981)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 18077149
GRCz11 1 18770086
KASP Assay ID:
2259-0400.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCATTCACAACAGCCAAGAGCCCAGCTATTTTGGCTGTCTGCTCAGAGAG[G/T]AGAAAAAAGCAGCCTGCTATGTATTCCGCTGCCAGGACCAGCTGAAGGTA
Long Flanking Sequence:
TGTGGTTGACTGATTAGAAACTTGCCATAACGAGCAGTTGGACAGGTTTACCTAAACAAGTGGCTAGTGAGTGTATTTTTATAAGCAGGTAAATAAAGATACAGTACATAAAGTTGTCTGATACGCTAAATGAAGATGGCATATTGTTTCAACATTATTTTGACATTTTACTTTTTTACAAAAAAAAAAAAAAAAGATTTTTTTGGTAAATATTTTCTCATATTTTCAAATGAGATTTAAACATAATGGAATATCTTAATACCACCATTAAACTTTTTGGTGAAAGAGTTTTTTCTCTTTTATGATCCAAGATTCGAGATCAGCCAGTGGTGCTTCAGATTTCAGCCAGTTCCGTGTGCTGCATTCTGGACACGGCAGGCCCAGGGAAGCCATGGAACCCGTTGCAACATATGGTTCTGTTTGATCATAGGCCTCATCATGTCACCAAACTCATTCACAACAGCCAAGAGCCCAGCTATTTTGGCTGTCTGCTCAGAGAG[G/T]AGAAAAAAGCAGCCTGCTATGTATTCCGCTGCCAGGACCAGCTGAAGGTAAGGGATGTTTAGATCTTATCCACCTTTTTCCTACATCCCGTGATGCTTTGCGTGAATTATGAGAGTAATGTTCATTTAACTGTAAACTGTTTTTAAAACCGAGCTGCAACTATTCTCACAGTTCATCCATCAAATCTTAAAAGGAAACCAATTTGAATTAAAAAATTACCGTCAACAGGTCAGAAATAACCACCAAAACCTGAAACTAGTCATTGTACAGCAATATTACAGATTTGCTAAATATTACTGTATTATAATGAATACAAAAAGAGAACATAAACTGAAGAAAAAAACACAGTTTTTGTAGAACACGAAACAAGATATTCTGATGAATGTTGGAAGAAAGCAGAAACTGGCATAAAAAATATTATACAAGCTAATGTCTGTTTTTCCAAAAAAGGTTTGGAAAAAGTGGACATTAAGTAAATGATGACAGAATTCTCATTTTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32642
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
ENSDART00000089294 Nonsense 43 1057 2 20
ENSDART00000089328 Nonsense 165 658 3 13
ENSDART00000133194 Nonsense 166 1253 3 23
ENSDART00000147525 Nonsense 166 1213 3 22
ENSDART00000147645 Nonsense 166 1180 3 21

The following transcripts of ENSDARG00000062081 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 17468492)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 18033660
GRCz11 1 18726597
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCAGAGATCATCAGCACTCTCAGACAGGCTGGCAAAAGCTCTGCCCGG[C/T]AAGAAGACACTCCATCACTGCCTAGCAACGGTCAATCAGATGCCTCCAGC
Long Flanking Sequence:
TACTTTCCAAAGCATAACAGGTTGAATTCTGGATATAATGAATTTAATTACTGGTCGTTATTGGATTTTACTGCATAAAGAGTTTTTAGGCGCCTCTCAAATCTTCCTTTACAGAAAAAAAGTGTCAAATATGCATCACCTGTGCTTCAATCACATGCTAGTCATGGAACATGTGTAACACGTGAACACAAATGAAACGTTTGCTTTTGGCATATTTTCATGTAAAATGACTGAAAAAGTTTCCACTGAAGAATTTTTCCACAAGTGATGCTCAAGTGACATTCATGGTTTTTCTGTCATTGATAGATGCCATTAAATAACTTATTTTTTTGAGTATGTCTGACTGAAATGGCTAACTGAATATTTTCATGATGTACTGTATGTAGGTGTAGTTTGCGTCACTTGCATGACCTCATTCTTTCTCTCTCACTTTTGCATCTGTTCTCCAGGTTCCAGAGATCATCAGCACTCTCAGACAGGCTGGCAAAAGCTCTGCCCGG[C/T]AAGAAGACACTCCATCACTGCCTAGCAACGGTCAATCAGATGCCTCCAGCTCCACGGCAACAGCAGCTGATGCAGCCACAGCCTTCGCTAAAAAGTTTGAGGTGTTGTTCTGCGGGCGAGTGGTGGTGGCCCATAAGAAAGCACCTCCTGCACTAATAGATGAGTGTATAGAGAAGTTTGGACGTGTCAGTGTTACAGGCTCACTTGCAGCGGGCATCAGGCGGGCGTTTTCACTCAATCAGGTTACAGTATTTATGTATTTATTTATTGCAGTATTTATTTAATGTATGAACACAGTACTAGATTGTGAACATCTTACATTTGGCATGTTAACATCTTACATTTAACAACATTTATTTTATTATTCATTCATTCATTCATTTTCTTTTCGGCTTTAGTCCCTTTATTAATCTGGGGTTGCGACAGTGCATTGAACTGCCAACTTATCTAGCATATGTTTTACACAGTGGATGCCCTTCCAGCTGCAACCCATCTCTGGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32641
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
ENSDART00000089294 Nonsense 255 1057 6 20
ENSDART00000089328 Nonsense 377 658 7 13
ENSDART00000133194 Nonsense 378 1253 7 23
ENSDART00000147525 Nonsense 378 1213 7 22
ENSDART00000147645 Nonsense 378 1180 7 21

The following transcripts of ENSDARG00000062081 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 17458192)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 18023360
GRCz11 1 18716297
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCAAAAGTTTCAGCTCAGAGCTGCTGTGTTCTTCATGTTCAGGTGGAT[G/T]AGATCATGTTGACTTTGAAGCAGGCGTTCTCTGTGGCCGCTCTCCAGCAG
Long Flanking Sequence:
CGGCTTCATATGCAGGGAGTCGGTTGAATGCGGAGGCTGCCAGTTTGTTTGCTATGTTTTCCAGTGTGCAAACGAGGCTCTGGTGAGAACCATGGATAAGATGAAAACATTGTTTCCATCCGAAGAACATTCGGAACAGATCCTTTAAAGAGGACTGAAGAATGTGTTCTGTTCTATCTTTTCTTTTTCGTTAAGTCAGGATGAAAATACAGTACAGTGTTTCCATTTGCACTATGAGGACAATGCACATTTTGTGTTGTACAAAATACAAACCGCAAATCACAAAATACAGCTACTAATGGCATACAAAAATATTTTGAATCAGTAAGTTATGATCCTTCATATAGTGAAACAAATGCATCTGGCTTGTTTCAAACAAGGATTCACTACATTATGGGATTTATGATGGTAATTAAATAGAATATTCCACGGGGTGCTATTAACCCTTTCTTTCAAAAGTTTCAGCTCAGAGCTGCTGTGTTCTTCATGTTCAGGTGGAT[G/T]AGATCATGTTGACTTTGAAGCAGGCGTTCTCTGTGGCCGCTCTCCAGCAGAACAGCAGGACCCAGAGTCAGCAGTGTGACGGCTGTCCCCTGCAGCAGCTGCACAAACTCTGTGACAGAATAGAGGGTGAGACGTCTACTGTTTGTCATTTCACTCAACTCTGTCATGTTTGACCCATGCATCAGCCTGGACTTCTAATGTATGTCATGCACTCATCTGACATCCTGATAAAGTTCTAGAGAGCACACATATCAATTCATTTGGGATATTGACCATTTCAATGTGGTGGTGTCACTGGCCCATAAACATTTCCTAATTGTTGTCAAACTATTCATAACAAGAGACAATTGAATAATATCCTAACATTAAAACAGCTGCCGTAACTCATTGTTATTGTTTACATGTCTTAAAATGGTCTATAGTTGTTGGTTCTCCGTGTATGCAAATAGATTTGTGCTTTTTTGAATGAAAGTGACTCTTTCATCTTTCACAAAATTAGG
Associated Phenotype:
Not determined