ZMP
si:dkey-110k5.6
Ensembl ID:
ZFIN ID:
Description:
TBC1 domain family member 8B [Source:UniProtKB/Swiss-Prot;Acc:B0R0W9]
Human Orthologue:
TBC1D8B
Human Description:
TBC1 domain family, member 8B (with GRAM domain) [Source:HGNC Symbol;Acc:24715]
Mouse Orthologue:
Tbc1d8b
Mouse Description:
TBC1 domain family, member 8B Gene [Source:MGI Symbol;Acc:MGI:1918101]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa999 | Nonsense | Available for shipment | Available now |
| sa20398 | Nonsense | Available for shipment | Available now |
| sa15626 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa999
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000089605 | Nonsense | 468 | 1125 | 9 | 20 |
| ENSDART00000135153 | Nonsense | 468 | 1108 | 9 | 20 |
Genomic Location (Zv9):
Chromosome 5 (position 25329500)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 23156765 |
| GRCz11 | 5 | 23660565 |
KASP Assay ID:
554-0903.1 (used for ordering genotyping assays)
KASP Sequence:
GGCGTGGAACTGGAATGTTTTGCACCAAAAAAACACGTGACCTCATTGTG[C/T]GAGGAGTTCCAGAGACTCTCAGAGGAGAACTGTGGATGCTCTTCTCAGGT
Long Flanking Sequence:
ATTCTGACTTCAGCTGTATGTATACACACACACACACACACACACACACACACACACACAAACACACACACACAAATATATATATATTTCAACTATGATGTTTTTTTTATTAGCTGTGATTAGGTTTTTTTAACTACTAACAAACAGCCAATATCTTATTAACAGGCAGGTTATAACCCACTGGTTATAAGATAAAGTGTAAACAAGAAAATATTACTTGAATTGAGCAAGGACACATTAAAATGACTAGAAGTTACAGTTAATACATTTAGAATGTTACAAATCATTGCTATTGTCTATAAATGCTTCTTTTGAACCCATTCATGAACGTTTCATCAACGACTTTTATTAAGAAATGCATCTTGCCATTGCTGATATTGTATCATTGTGATTGGCAGCTGAAAGAGCGGATGAAGGAGCAGTCGTGGCAGATCCACTTTGCTGAATATGGGCGTGGAACTGGAATGTTTTGCACCAAAAAAACACGTGACCTCATTGTG[C/T]GAGGAGTTCCAGAGACTCTCAGAGGAGAACTGTGGATGCTCTTCTCAGGTGTGTGTTTATTGCTCTGGTTGTGTACGTGTGTGTGTGTGTGATATGTACAGTTGGACAAAATTAATAGCTTTCATTTGAAATTCTAATTATTTAAATATTTCCCAAGTTCTGTTTTTTATACAGAATAGTTTAAATAAATAATTCTTGATAGCTAATTTCTTTTGTCTTTGTCATGATGACAGTACATAAGATTTTTCTAGTTATTTTCCAAGACTCTAGTATTCAGCTTAAAGTGCGTTTTAAAGGCTTAACTAGGTTAGTTTAACTAGGCAAGTTAGGTTAATTAGGCAAACAAGCCACTAAAAACTATTTATAGGGGCAACAAAATATAAATTTTAGCAGTTTTTATATTCTTTAAAATTATTTCTAAATATGAGCTAAACTAAAAGAGAGTAATTTCTCCAGGAAAAAAGAAAATACTGTGAGATGCTTGCTCTGTTTAGCAATCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20398
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000089605 | Nonsense | 719 | 1125 | 13 | 20 |
| ENSDART00000135153 | Nonsense | 719 | 1108 | 13 | 20 |
Genomic Location (Zv9):
Chromosome 5 (position 25323570)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 23150835 |
| GRCz11 | 5 | 23654635 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCAGCAACTGTTCAGCAGGCATCTGCAACAGCCAATGACAAATCAATA[C/T]AAAAGGTTGACATCAGCGACCTCATCAAAGAAGCATATGAGGTAAAGCTG
Long Flanking Sequence:
TGATTTATGTTCACACAGCTACATTACACATCAACTAAAGTTTCATATATGATATTGTAGTGGACCACCCCATTAAAATATTATACTTTAATCATTATTGTTTTGGTCCTGTAGAGACCTATATATTTTTAACTGGCAGGCAAGAGTTAAAAAGGCCAAGTGTTCAAGTCAAGCTAGTGAGTTTTGTTCAGTGTAAGAAGTCTTTTAAAATGATATATTTTAAAAAGTCACCTATATGTTTGCTGTTATTAATATGTGGATCTTTTGTCCATGCTCTTTAATTTATTAATTCGGAAAAGATTGAGATGACCAAACTTGCAGTGTCTTTGAAATACATGCTGTTGTTTTATTGTAAAGTGGATTTTTTTTTTATTTATCAACATGACGTTTGTTTATATTTGATTTTGTCCTTCAGGTTTTTTGACAGTGTCACAAATAAAGACAGTCCCTTGCCAGCAACTGTTCAGCAGGCATCTGCAACAGCCAATGACAAATCAATA[C/T]AAAAGGTTGACATCAGCGACCTCATCAAAGAAGCATATGAGGTAAAGCTGCACACTTCAATACACGACAGTGAACATTCAAATCTCAGATCAGATGGAAGTCATTAGCCTTGTTTGCTTTTGTTCAAGAACATGCCATCAAGAGCCACATTTTTATGATTATTAAGGCATAGAGTTTTATTTTTGAAGCGTTTATCTTTCTGTTTGATGTTAGAATGACTTTGCTAATGCTTAGTCAATTATGCTGTTGGTGACAGATTTTAAAGCTAGGTGTTGTGCAATAAAAAAAAAGGTGTCAGTTTTATGAGCGCCTGAGAATTTCACACTTTCAGACTGGTCCGTTACATGTAATGATGGAAACCCCACAGGAGGTCAGAGATCAGGCAACCTAAAGCCCAACAGTTGCTCAGACTAATGAAGCATCTTTGTTTCAGAAATATGGAGACATTCGAACAGAGGAAGTGGAAAACATGCGAAAGAGGAACAAGCTTTATGTCATTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15626
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000089605 | Essential Splice Site | 905 | 1125 | 18 | 20 |
| ENSDART00000135153 | Essential Splice Site | 888 | 1108 | 18 | 20 |
Genomic Location (Zv9):
Chromosome 5 (position 25317847)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 23145112 |
| GRCz11 | 5 | 23648912 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAKGTAGACTCTRCAGAGGACGGAGTGATCAGAAAATGTCCAGAGAGAGG[T/G]GAAGTATTCATCTGTGTGCTCTAATCGTGTTATCTACATCATATCAAGCA
Long Flanking Sequence:
CTTCAACTGTATATATGCATATTTTATGTGTTTCTTCAGGGAACCAGGAGTGTAAGATTTTACCGTCGTCTAGATTTTTTCCTCCGGGTGAAGATCACTCTTTCTCCACTCGTCTTTCTGGTCAGCTTTCACTACTTTCATTGCTCTTTTCCTTTCACTCTTTCTCTTTTTCTTCTGGGTGTGTTATAACATCAGTGATCAATTTTGTGTGCTCGTACTGTATGTGTGGTTATTTGCTTTTGTGTTGTGCACAACATTTATTTATCTGCACTTTAGAGAGACTTTGTGTCACCTGACATTTAAAGTCATAACTTTAGGGAATAGACGCATACCACATTTTGGTGTTTTAACAAAAAGCAGATGCTCAAACCCTATACTACCATATGTGCATGTATCTCTGTTCATGCATGAGTGTCTGTGTTTGTGGCTGTACATTTTCTCCTTTTTTTTAATGTAGACTCTGCAGAGGACGGAGTGATCAGAAAATGTCCAGAGAGAGG[T/G]GAAGTATTCATCTGTGTGCTCTAATCGTGTTATCTACATCATATCAAGCACAAACGATCATGATTTGTTTTATTATTGGTTAAACACATTGATCTGATGTGAAATTATGAGATGGAAGAAATCGATTGCAGTACTTGATTATTTGGCGTGCTTCACCAATCAGAATCAAGTATTGTGTCTTTCCCCTTAGGCCGTGCCAAAGTAGATCTGCAGGAGTATCTGAAACAGTGGCAGGAGGACTTACAGCGGAGAGAGGAGAATATTAAAGATCTGCCCAGAATTAATCAGGTACTCACTAAAGATGTGGTGGAAATTACACTTTCATCAATCTGAAATGCGTTTGTGCAGTTGCTCAAATAAGCTGGTGTTTAATGGTATTGACTCTTTTCACAAGACTGTTATGACGCGTTTACCAGTCATCAAAAAAGTAAAAGTTTTTAATATTTTGATAAAAAAAAAACTTATGAACATTTATTTGCATTTATATAGTTTAATATCAT
Associated Phenotype:
Not determined