ZMP
si:rp71-68g1.4
Ensembl ID:
ZFIN ID:
Human Orthologue:
BIN1
Human Description:
bridging integrator 1 [Source:HGNC Symbol;Acc:1052]
Mouse Orthologue:
Bin1
Mouse Description:
bridging integrator 1 Gene [Source:MGI Symbol;Acc:MGI:108092]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa217 | Nonsense | Available for shipment | Available now |
| sa13925 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa217
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 |
|---|---|---|---|---|---|
| ENSDART00000081606 | Nonsense | 20 | 567 | 1 | 19 |
| ENSDART00000144600 | None | None | 192 | None | 5 |
| ENSDART00000146424 | Nonsense | 20 | 386 | 1 | 14 |
Genomic Location (Zv9):
Chromosome 9 (position 7486049)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 7466142 |
| GRCz11 | 9 | 7444533 |
KASP Assay ID:
554-0156.1 (used for ordering genotyping assays)
KASP Sequence:
AATTACCGATGGGGAAAGGGGTGTCCGCTGGAAAAATAGCAAGCAATGTA[C/T]AGAAGAAAATTACTAGAGCACAGGAGAAGGTAAGATATTTTAATAATCAC
Long Flanking Sequence:
TCAATGAAAACATCAAATGTTTTAATTTGTACTCTTCTGTGTGGAGTATTTAAATTAATATCTAATAGAGAAATGTCAATTATTTAAAATGCTAACTGATCTTCTTCTAGTGTCCATTTTTAAGCAGAAAAGCACATTTTTCATCATCATGTTCCGCACCACGGAATGTGGTGAGAAGGATTTGCCATATTATTTTACTGCTTCGTTGCTGTGCCATGAAAAATGGTGTCCTGTCCCTTTAAGACTGCGCTTTTGTCATTGGTCAGTGACCATCTGTATCGTGTGCGCTTGTGCAGCTTCATTCTAGTCCAGGGGCGAGTGTTATTATAAGGCCTAAAATATCTAGCTACCTGCATTGAGGAAAATACAGCTCTGTTGAATTACATATTTAACACATGTTCATTTGACGCGGTATCCTGCAAGAACCACAATCCGGATAAAAAATGGCTGAATTACCGATGGGGAAAGGGGTGTCCGCTGGAAAAATAGCAAGCAATGTA[C/T]AGAAGAAAATTACTAGAGCACAGGAGAAGGTAAGATATTTTAATAATCACGTGTATAATCAAATACATCCTCTGATCTCGGTGTTATCTACATTACAGCACATTAAAGCATTAAAGGCCAATGCATCGTCCTCTAGCGAGCTCTATAAACCTGCAATGTGACAGAAAGGCTCGTCCATAGTTGACTAGGAAATACTACAGTAAATGCATTTGTCTGCTCTATATTGTGCGGATGTTTAAATATATTTATATAACAGTTCTGAAGGCTCAAGCTCTGTTTATTTCATTGCTGTAAAGGCTGCTATGGAAACTACATGAACGCTTAGCCTGTTACACTGGATTTCTATACTAGCATTGAACACCATGAAGATCTCTTCGTGATTTAAGCTTAAATCCACCCATTTATTATGTCTACCCTGCATTAACCTAACCGTACTTATCTATTAGATGAGCGCGGCGATGATGCACGACTCGTGAACGAGTCATTCCTTTGAATAGGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13925
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:
G > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000081606 | Essential Splice Site | 74 | 567 | 3 | 19 |
| ENSDART00000144600 | None | None | 192 | None | 5 |
| ENSDART00000146424 | Essential Splice Site | 74 | 386 | 3 | 14 |
Genomic Location (Zv9):
Chromosome 9 (position 7483427)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 7463520 |
| GRCz11 | 9 | 7441911 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGTACCAAACWGCAGAAAGACCTTCGGGCCTATTTGACTGCTGTGAAAG[G/C]TACGATTATGAWGAAATTACACWCCTGCGACATGAAATGAAATGTGTTGA
Long Flanking Sequence:
TATTTATTTTAAACATTTTTTATATTATAAAGCAAAACGTTGAGTTCTTTTTTTTTGTTATTATACCATAGCCTTATTTTTTTAGCTTAAGTCAGTATCGTGATAATATTGTATCACAATTAAAGCTTCAGCAGTTATTGCATGAAAATGGGATATCATTGGAAAACATTAATCATGTTAATTAATGATTAAACAAATTAAAATAACTACGACCAGAGGATTGCGTTGTCAATAATATCACCATCATCATCTTCTGGCAGGTTATGCAAAAGCTTGGAAAGGCAGATGAGACTAAAGATCTGGCGTTTGAGGAGGGCGTGATCAACTTTAATAAACAGTTGGTGAGTGGCTTTCTGACTGTACACGATATTTCTTCAAACGTCCATCAGGAATTGTGGCTTTGGCCTGTGTATCTCTGTCTTAGTTTTGTCCTGTGCTCAAATAGGTGGAAGGTACCAAACTGCAGAAAGACCTTCGGGCCTATTTGACTGCTGTGAAAG[G/C]TACGATTATGATGAAATTACACACCTGCGACATGAAATGAAATGTGTTGATTTCTTAGTCTTGCTGATGCTTTTGGCTTCCCCTCAGCCATGCACGAGTCTTCTAGACGTCTGTACGAGTGCCTGGATGACATGTATGAGACAGAGTGGTACGGCAGAAAGAAAATGGACGCAGTTGTAGAGGTTATTGTTTTATTTTAATATCATTGTCAATAAAATGTCTTTCATTGTATATATATAGGACATCAGGAAAGTATTCATAGCGCTTCACTTTTTCTACATTTTTTATGTTACAGCCTTATTCCAAAATGAATTAAATTCATTTATTTCCTCAAAATTGTACACACAATACCCCAAAATGACAATGTGAAAAAAGAGTTTTTGAAATTGTTGGAAATTTATTAAAATAAAATGCAGGTATATTCTATTTCCATTGATCATTCTTGAGATGTTTCAGCAGCTTAACAGGAGTTCAGCTGTGGTCAATTCAGTTGATTGGGC
Associated Phenotype:
Not determined