Busch Lab

ZMP

tbcd

Ensembl ID:
ENSDARG00000040099
ZFIN ID:
ZDB-GENE-060823-1
Description:
Tbcd protein [Source:UniProtKB/TrEMBL;Acc:Q4V9C9]
Human Orthologue:
TBCD
Human Description:
tubulin folding cofactor D [Source:HGNC Symbol;Acc:11581]
Mouse Orthologue:
Tbcd
Mouse Description:
tubulin-specific chaperone d Gene [Source:MGI Symbol;Acc:MGI:1919686]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa6045 Nonsense Mutation detected in F1 DNA Not yet available
sa40155 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa40156 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa26147 Nonsense Mutation detected in F1 DNA Not yet available
sa20134 Splice Site, Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa6045
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
ENSDART00000058645 None None 279 None 9
ENSDART00000114392 None None 328 None 10
ENSDART00000123290 None None 145 None 5
ENSDART00000125973 Nonsense 341 1191 10 39

The following transcripts of ENSDARG00000040099 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 49413894)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 44108314
GRCz11 3 48253725
KASP Assay ID:
554-3932.1 (used for ordering genotyping assays)
KASP Sequence:
TGGCCCAGTCTTCTGTCACTGAAAGTGTAGAGGCTACAAAACCTGATCTA[G/T]AGTCTGTTAGCCAGGAAGAAGACTATGACATACCTCAGGAGGTAGAGAAT
Long Flanking Sequence:
ACATGCTATACAAAAAAAAAAAAAAGAAAAAATTTTGAAAACAGTTTCATAGTTCTAATCAAGTGATGATTTTTTACCAGGCCCAGCTCTTCAAGCATGGGAAACGGGATGACTTTCTCCAGTATGGTGTGTATCTTTTTTTTAATTTCTATCAAACCAAAATGTATTTAGATAAATGTTTACCAATCTCCTTACATTCGCAGCCCCCACAGTTCTTGAGTGCCTGAACCAAAAGAAAATAGCCGAAAGTAACCAGGCCACATTGCGTAAACTTGGAGTAAAGGTTGTCCAGAGACTTGGCTTAACTTTTCTGAAACCACGTTTGGCAAAATGGAGGTAATTGAGGAGTAAATTATTGTTACAGCATGAAGAAATCAACCCAAAATAATGTGTCAATTGTGTTTTTCATGACCAGGTACCAGAGAGGAAGTCGGTCACTTGCTGTGAACCTGGCCCAGTCTTCTGTCACTGAAAGTGTAGAGGCTACAAAACCTGATCTA[G/T]AGTCTGTTAGCCAGGAAGAAGACTATGACATACCTCAGGAGGTAGAGAATGTCATTGGTAAGTATCTATTTGTTTTATTTTCTTAACATTCTCTTGTAAAATAAACAAACATTCTCTTGTAAAGCTAATTTGCATAATCTGTTGTAGAACAACTGCTGTTGGGACTGAAAGACAAAGAGACTATAGTCCGATGGTCTTCTGCCAAAGGGTGAGAATAGTCACGTTCGTAAATTACACTTTGTTTTATTTGGCCTAACTGAACTGGCTATCATAGTGTCATGCTTCTCTCTGAAAAAAATGTATAGCAAAAGCAAATGATAATTGTTATTTTTTTAACCAGCATTCCTTTTTTTAACTGCCTGCAGGATTGGTAGAGTAACTGGTAGACTGCCTAAAGAGCTTGCTGATGACGTGGTTGAATCTGTTTTAGATTGTTTCAGGTATGAAATTACATACCTGAGATGTAATGATATGATTGAAGTGTTTTCAAATACAGAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40155
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
ENSDART00000058645 None None 279 None 9
ENSDART00000114392 None None 328 None 10
ENSDART00000123290 None None 145 None 5
ENSDART00000125973 Essential Splice Site 405 1191 12 39

The following transcripts of ENSDARG00000040099 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 49414336)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 44108756
GRCz11 3 48254167
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTAAAGAGCTTGCTGATGACGTGGTTGAATCTGTTTTAGATTGTTTCAGG[T/A]ATGAAATTACATACCTGAGATGTAATGATATGATTGAAGTGTTTTCAAAT
Long Flanking Sequence:
TGTGAACCTGGCCCAGTCTTCTGTCACTGAAAGTGTAGAGGCTACAAAACCTGATCTAGAGTCTGTTAGCCAGGAAGAAGACTATGACATACCTCAGGAGGTAGAGAATGTCATTGGTAAGTATCTATTTGTTTTATTTTCTTAACATTCTCTTGTAAAATAAACAAACATTCTCTTGTAAAGCTAATTTGCATAATCTGTTGTAGAACAACTGCTGTTGGGACTGAAAGACAAAGAGACTATAGTCCGATGGTCTTCTGCCAAAGGGTGAGAATAGTCACGTTCGTAAATTACACTTTGTTTTATTTGGCCTAACTGAACTGGCTATCATAGTGTCATGCTTCTCTCTGAAAAAAATGTATAGCAAAAGCAAATGATAATTGTTATTTTTTTAACCAGCATTCCTTTTTTTAACTGCCTGCAGGATTGGTAGAGTAACTGGTAGACTGCCTAAAGAGCTTGCTGATGACGTGGTTGAATCTGTTTTAGATTGTTTCAGG[T/A]ATGAAATTACATACCTGAGATGTAATGATATGATTGAAGTGTTTTCAAATACAGAATTTTATTATATTACACTATATATTTTTTTTATAATGTGCAGTTTTCAGGAAACAGATAATGCTTGGCATGGGGGCTGCCTGGCTCTTGCAGAGCTAGGCCGAAGAGGACTGCTGCTTCCTTCTCGTCTGTCAGACGGTTAGTTTGTATTTTCTTTTAATCTGTTATATTTGAAATCTGCCTTACCAACATAAGTTATGGTGGCTGAGAGAGCTTTAGCCTGCTGCAATTTAAGAAAGCATATGCAATTACAAAAAACGCCAGCAAATTGAGAAAAGATCTGTTTGACAGCACATGTCATTTCTGCATTACACTTTCGAATAACTCTAAAAACAAATAAACTGTTTCAAGGAGACCATAAATCGTGACAGACCTGACTATTCAGATAATGATTATTTAGGCTTATAAATACAAAAGACATGGTTCTCGGGATATTAAAATAAACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40156
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058645 None None 279 None 9
ENSDART00000114392 None None 328 None 10
ENSDART00000123290 Essential Splice Site 33 145 1 5
ENSDART00000125973 Essential Splice Site 547 1191 17 39

The following transcripts of ENSDARG00000040099 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 49440540)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 44134960
GRCz11 3 48280371
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGGACTACTTCACGGTCGGTAACCTGAATAACTGCTACCTGACTATCAG[G/A]TAAGGAGGAACAAGCTGAAAATGTGTGACTAAGAGCTGTTTGGTATTCAT
Long Flanking Sequence:
GAAATTTGTGTTTTGTTGTATATCCTGTGTGTATTAAGCAATGTGTAAGTGAGGCGCACAACTAATGCGCTCTCAGCCGGTCTATTGTGCAGTCTATTTTAGCTCCTCAAAATTTGCTAGAGCATTTGCTAAAGTATTTCAACCGGACAAAACGACACACTTTAGCTTTAATTCCCCAAACTGTAGCTCCATACAATAAGAAATGTCAACAAATGTAATGTTTGTTTCTTTTTCCCATGCATTTAGGCTGCTTTCCAAGAGAATGTGGGCAGACAGGTACAGCGAAAACAAACACACTTAGATAAACACCATTCACATACATTATAAACACCTGTGCTGATCTATAGCCTAGCAGGCCATTCTTTGAGTCTGAGTATGCCTGATCTGATATGCACCAATATCATGTCTCCACAGGGCACTTTCCCTCATGGCATAGACATTATCACAGCGGCGGACTACTTCACGGTCGGTAACCTGAATAACTGCTACCTGACTATCAG[G/A]TAAGGAGGAACAAGCTGAAAATGTGTGACTAAGAGCTGTTTGGTATTCATAATTGAAGGCCTTTGTTCTTGAGAGAACATGCTGCAAACATTATGACATGATCAGTAATACACCCTGATTTTTTTGAACTCTCAGGGAGGTCAAAACATAATCAATCACGCCAAGTTTTAAATGCATTAATGAGAGAGGCACAGGTTATGCTGTTGTGGCTTTCTTCATGGTTTCTTGTGTCGCACCCTGCGGAAAAATGTCACCGTTTTGACTGCGGTGTCTCAGTGTCGAAAAAGAGCAATGTGAAAAATGCTAGCCTTAGGGAGCGAAGAGCCACACTCGAGGCTTACCGCCCAGCCTTCTGTAAAAAACTGTCAAAGTGATATTTTAGCTCGATTCCTTTTCGTCAAACCTGGATAAAAATAAAGGGTCACCTATAGAAATATAGATAAACATTTCACTATATAAATGTAAATGAGAGTAAATACATACAACTAAATAAATGTAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa26147
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058645 None None 279 None 9
ENSDART00000114392 Nonsense 154 328 4 10
ENSDART00000123290 None None 145 None 5
ENSDART00000125973 Nonsense 1018 1191 33 39

The following transcripts of ENSDARG00000040099 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 49481168)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 44175588
GRCz11 3 48320999
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATCTTTATTCGATTACCTAAAGGGCATCCAGCAGGACTTCACAATGCTT[C/T]AACAGTTTGGAGACACATTGTTACGCATCTTCAGAGATAATCTGCGCAAC
Long Flanking Sequence:
TAATCATTATGCTATAATTGAAACACAAGACTGGTCTAAAATGTGTAATCAGAATCTTTTTTTTTTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAAAACAGGCCATTTTACATTTTGTGCCATGGAAATAAGTGTGGATCACTGATAACTTTTTTATTTTGTAATTAATAAGTAAGTACTTGAATAAATATTTAATTGGAGTACAAAATAAGACGTGATCGGCAATAAGATTTGTAAAATGTATATAATATACTGTATTTTTTGTATTTAAATATTACATTTTGTTTTAAATATAATAAATAACTTATGGATGTAGATAATAAATAGTGTTTACAATAACATAACAACTACAATTCAAACTATTATTCTTAGTTTGTCATTTTTAAAGCATTTTTCCTTGTGTGCCTGCAGGTGCGTTTTTCCTCTCAATCTTTATTCGATTACCTAAAGGGCATCCAGCAGGACTTCACAATGCTT[C/T]AACAGTTTGGAGACACATTGTTACGCATCTTCAGAGATAATCTGCGCAACGACAGGTGCAACAAAACACAACATAGCTACGAAACCACATGCAACACCATACAAATGTAGTCAGACCAAAATCTTATGTCACAGTATGAGATGTTTGAGATGCTTAAGAATCTCAACAAAATAAAAAAATAGCTTTATATATTAAATACCAATTTTTTGGAATTTAACATCCATATGAAATTAAAATTTTAAATGTTTACTTTGCTAGTGTACATTCTGAAGGCCTGTGCACACCATGACGTTTTTTGCTTGCAGTTTCCATCGACGTTTAATGCCTCGTGACTAATTAAAGGCTGTCAATATGATCGTCCACACCAACGCGCAAAGCGTCAGGCGTAAAAGTGTCATTTAAAAAAAAAAAACGCCTCATGGTCACTTTTTTTCAAGTGCACAGAGCTGCTTAAGTTAGAGTAAACAGCACTTGGAGGCGCTCTAGCGCAAAACTGTCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20134
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:
T > A
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058645 None None 279 None 9
ENSDART00000114392 Splice Site, Nonsense 257 328 7 10
ENSDART00000123290 None None 145 None 5
ENSDART00000125973 Splice Site, Nonsense 1121 1191 36 39

The following transcripts of ENSDARG00000040099 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 49486808)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 44181228
GRCz11 3 48326639
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAGAAAGTCTTAGTTCAGCTGTTGATGTTGCTCTGTCACCCCTTCCCTT[T/A]GGTAAGACACCAGTAGCAGATCAGATTTAGTCTAGACAATTTTGATGTAA
Long Flanking Sequence:
TTATGATTGTCTAGACCTACCCCAACCCTAAACCCAACCTTTTAGTAACCTCTTGTGTTTTATTAGTCTACACCTACACCAACCCTAAACCCAACCTTTTAGTAACCTCTTGTGCGTTATTAAAATCAACCCCAGCCCTAAACCCAACCTTTTAGTAACCTGTTGTGTTTTATTAACATCTACACCTACCCCAACCTCATATTAACCTCTTGCGTTTAAACGTCTAGACTGACCCCAACCCTAAACCTAACCTCATAGTAACCTGTTATGTATTATGAATGTCTATAACTACACCAACCCTAAACCCTGCCTACTTGTGGCGTAAGTCTCTTCAGGCAGCAGCGATACTTACTTTAACTGAGAGAAGAAGATATGATGACTAAATGAACTTTGTCTCTCTGTCTCTGACCGCAGGTTCTGTGGACTGGTGCAGTTTCCTGGTGATGTGAGGAAGAAAGTCTTAGTTCAGCTGTTGATGTTGCTCTGTCACCCCTTCCCTT[T/A]GGTAAGACACCAGTAGCAGATCAGATTTAGTCTAGACAATTTTGATGTAATTTTGACTCCATTGTCTGTCTTGGGTCTGAAGATCAGAAAGACGACTGCCAGCCAGGTATACGAGATGCTCTTGACCTACGATGATGTCATCGAAGATGAACAAGTGCTCGCTGATGTCATGGCCTCGCTTAGTGACACAAATTGGTGAGTGCCTACATGGGGATTATTAAAGGATTGTGAGGAGGAATTTGGTGTGGATACTTGCTTTATGGTCGTTTCATGTTTCCTGTTTTAGGGAAAGTGACATCGCTACAGTGCGGAGTCACAGGAATCAGCTCTGTGATTGGTTGGGGGTGCCGAAGCCCACTCTTGTAGCCAAGGTAACATATTTAGAGATTTTACAGTGATTGTTTTAGAGTTTGGGTGATGTCATTTATAACATCCGATTTCCAGAATCAATCATTACTGACCTATTTATTATTCTTATATACATTTTTTATATTTATTTG
Associated Phenotype:
Not determined