ZMP
bbs5
Ensembl ID:
ZFIN ID:
Description:
Bardet-Biedl syndrome 5 protein homolog [Source:UniProtKB/Swiss-Prot;Acc:Q7ZWB7]
Human Orthologues:
BBS5, RP11-724O16.1
Human Description:
Bardet-Biedl syndrome 5 [Source:HGNC Symbol;Acc:970]
Mouse Orthologue:
Bbs5
Mouse Description:
Bardet-Biedl syndrome 5 (human) Gene [Source:MGI Symbol;Acc:MGI:1919819]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa2513 | Essential Splice Site | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa2513
Status:
F2 line generated
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:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000058255 | Essential Splice Site | 301 | 342 | 10 | 12 |
The following transcripts of ENSDARG00000039827 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 9 (position 49274175)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 48589245 |
| GRCz11 | 9 | 48286640 |
KASP Assay ID:
554-3187.1 (used for ordering genotyping assays)
KASP Sequence:
GCCTGATGACGTGGAGATTGAGCCGGATGAGCACACGGATGCTTTTACTG[T/A]GARTTTTACCTCATGTGCTACTCTYAGAAATAATGACGCTCTGCTTTCAA
Long Flanking Sequence:
AACTAAACCACAGTTAACAATAATTTACCTAATTAACCTAACTAGCTAAATTAACCCAGTTAAGCCTTTAAATGTCACTTTAAGCTGAATACTATCATCTTGAAAAATATCTAGTATAATATTATGTACTGTCATAGCAAAGATAAAAAAATAAATCAGTTATTAGCAATGAGTAATTAAAACGATAATGTTTACAAATGTGTTGAAAAAAATCTTCCATACGTTAAACAGAAATTATAATTCTGACTTTGACTGTATATTGTAAATACAGTTTTGAAGCTGCGTTTCCTATATTTACTTCGATGGGTACTCTCGGTTTGTATTCTGAATACAACCAAGGTTTTCTATTTTGTTGTAAATAAAAGGCAAAATGTCTGTAAATGACATCATCTTACAAATAATCATTCTGTATCAGCCTCAGCCCCTGGAGGAGCTGACCGTAGAGCAGCCGCCTGATGACGTGGAGATTGAGCCGGATGAGCACACGGATGCTTTTACTG[T/A]GAGTTTTACCTCATGTGCTACTCTTAGAAATAATGACGCTCTGCTTTCAACACATAGTGCTCTGTGTGTCTTGCATGCTGAAAATAACTGATCGCTTAAGCCACAACTCACAGAGGCCCACCAGCACTTTTGTTGCCTGGTATCAAAAATGTTTATACTGAGCACGGATGGGTCTGACAGTGGGAATGTGCTTTTGGTTAATACTTAAACAGATCTGATTACATGTAGAAATCACTGATGAGCTCTTTCATGTCTTTTTCATCTCAAGGCTTATTTTGCAGATGGAAACAAGGTAAAATCCATCCATCCATCCATCTTATTTAAATATCATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTGTCTATCCATCCATCCATCCATCACAGTTATCCATCTATCCATCCATCCATCCATCCATCCATGTAT
Associated Phenotype:
Not determined