Busch Lab

ZMP

bbs1

Ensembl ID:
ENSDARG00000075169
ZFIN ID:
ZDB-GENE-060126-1
Description:
Bardet-Biedl syndrome 1 protein [Source:RefSeq peptide;Acc:NP_001091721]
Human Orthologue:
BBS1
Human Description:
Bardet-Biedl syndrome 1 [Source:HGNC Symbol;Acc:966]
Mouse Orthologue:
Bbs1
Mouse Description:
Bardet-Biedl syndrome 1 (human) Gene [Source:MGI Symbol;Acc:MGI:1277215]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa43663 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa29611 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa16994 Essential Splice Site Available for shipment Available now
sa37331 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa13530 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa43663
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
ENSDART00000113061 Essential Splice Site 37 588 2 17
Genomic Location (Zv9):
Chromosome 21 (position 26859683)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 27428594
GRCz11 21 27465289
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCCACTATGACCCAGTTGCCAACCTGTACACCTTCTCCTCATGCATTGG[T/A]GAGTTTCATGAACTTAATAGTTGCACAATAACTCCCATAACAACTGTTTA
Long Flanking Sequence:
ACGCCATTTAATAACTATTTTCACAAATATGGCGGCTTAGTGAGTGTTTTAAATCTAGCGTTTAGAAATGAATTGATTTGTTGTCTGATGATCTGTTTGAGTCACTTTACAATGAGGTTTCATTACTTCATGTATTTACTAACATTAACTAACAATGAACAATACTATTATTCCTGGTTCTACGTTTTCTACTGCACCATTCAAATCTAAATCCATGCCTGTCAACATTAACCTTAGTTAATGCAGTTAAAATGAACATATTTATTTTCAGTAAGTAGTGTTAGCAAATATGAGTAAATACTGTTATAAATGTGCTCTTCATTGTTTTTTCATGTTAGGTTAGTAAATGCATTATTTAACATTAATGCAACTGTAAAGCATTACATCTGTTTGAAACAATAAGTTTCCCTCTTCTCTTGTAGTTCGGTGGCAAGCTCCAAATGGCTCGATGCCCACTATGACCCAGTTGCCAACCTGTACACCTTCTCCTCATGCATTGG[T/A]GAGTTTCATGAACTTAATAGTTGCACAATAACTCCCATAACAACTGTTTATCCTGCAGCTACCAATCTCAAAACTCATCCTTCTTATCTTTCTTCACAGCTCTTTCAGATTTGCATGGCGATGGTGAAAATAAGGTGAGTTGGTGTGAATGTGTACTTGCACATCGATTGCACATTTTGTTTTTACATTACATTATCTGAATGTAAAATAACTTTACATTCAGTAATGTAATGCTAAAAAATATTAATAATAAGTCACTTGCGTGTGTTTCCAGACGTACAGTGCTCAGCATATTTGAGTACACCCCTCTTAAATCTATCTTTAAATTCATATTTTTCATAGGAAGCTATACAATATTATATCTGTGCATATATATTGGATTAGTCAGTATTGAAGCCAAATCTGGAGCTTATTTAACAAAATAACTTACGATAACAGTCCAAAAACTAGCACAGCCAAATGTATATGTTATAGAAAAATATTAAATACAAATAAAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29611
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
ENSDART00000113061 Essential Splice Site 236 588 8 17
Genomic Location (Zv9):
Chromosome 21 (position 26864019)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 27432930
GRCz11 21 27469625
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGGGATGTTTACATATTGGATCCAGAAGCCTTTACCATTCTCTACAAGG[T/G]CAGCTTTAAGGGAGAACATTGCATCACATTGCAATGTGAACCTAAAATGA
Long Flanking Sequence:
TTAACAATAAAACAAACAAACAAAAAGGGTTACATTAAACTTGAATTGACAATCTCAACCATTTCCATTGCTGTCCTTTTTTTCTCAGATGTGATGGTGGGCCAAATCATAGGTTACCATGGGCCAACCGGACGCTAGTTTGGGCATCTCTGAACAGCTAGTATATTATTGATTTATTTATCTATCCCTTTTATCGTATGATCTTTTCAGGTTTCTGATGCTCGAGCCACATGAAATGGAGAATTTTGTTCATCTTCACAAAGAACAGCCTATACGTAGACAGGTACCAGTTACTGAATACATGTATACAGTCAGTCATTCACACACGGACAGGCTAACTAACACAACTTTTGTCTTTTTGTCTCAGACGGTCATTACCTGTATTGGAACATTAAAGAAGAACATGGCGGATGAGGATGCAGTCAGTTGCCTAGTGATTGGGACAGAGAATGGGGATGTTTACATATTGGATCCAGAAGCCTTTACCATTCTCTACAAGG[T/G]CAGCTTTAAGGGAGAACATTGCATCACATTGCAATGTGAACCTAAAATGATTTCCCCAAAATATGTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGATGTCACTGCCTAGTACGCCCACTCTAATGGACGTGACAGGTCAGTTTGATGTGGAGTTTCGTATCACTGTGGCCTGTCGGAATGGCAACATATACATACTACGCAGGTAAATAAGTAAACGGCAACTTATTTAAAGGCACAGTTCACCCAAAAAAACAAAAGATGGCTGTTATTTTCTCCTTTAATTTAGCTAATAATTAATTTTACTTCAAGCCATGTAAGAAGTAGGTGACTTCTGATGGAATTTTGAGAATGGCTTTAAATGTTTATTTGGGGCTATTTGTAAGTATTTTTTGTTTAAAGGGGTCAAATGTTTAAAGGGCCAGTTCACCCAAAAATTCTAAATCTGAGATCAATTACTCGTTGTTCACTTGTTTCTAACCTGTTTGAGTTTTCTTTTATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16994
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
Order Allele From EZRC
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113061 Essential Splice Site 365 588 11 17
ENSDART00000113061 Essential Splice Site 365 588 11 17
Genomic Location (Zv9):
Chromosome 21 (position 26866534)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 27435445
GRCz11 21 27472140
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTACACATGTAYAGAGACAAAAACCTTATYGGCACTATYAAGACTCCGG[T/A]AAGAACTGTCYTTGAYACATTTGGGTTTGGGTTGTGATRTGGTRAAAGCT
Long Flanking Sequence:
GCTGAAACGATATATTGTGCAGCCCTACTCCAGTGCCACTAATAAGAAGTGTTTCTGAATTACTGTATGTAAAAAGGCCAAATAAACAGATAAGCAACATGCACATGTATATGCTTTCTTGTCTTTAAGGGATTCCCCAAAGCCCAAGTACTGCATTGAGCTGTCCTCTCACCCAGTGGGACTGGTTAGAATGGGAAAGAATGTGGTTGTAGGATGTACTCATGAGACACTGCATGGTTACACTCAAAAGGTATGATAAACAAATCCATATTTTTCACCCTGGAAGTAATGCCTGTGGGGTTGTCTCTTATATGAATCTCTTATATGAATTGTCGTCCAGGGGAAAAAGCTGTGGACAGCTTATTTGCCAGCCCCTGTTACCACCATGGCACTGATGGATCTCCCCACACGAGGATTCCAGGCTGTGCTGGTCGGTCTGGCCAACTGTGAAGTACACATGTACAGAGACAAAAACCTTATCGGCACTATCAAGACTCCGG[T/A]AAGAACTGTCTTTGATACATTTGGGTTTGGGTTGTGATATGGTGAAAGCTATTTATGGAGTAGGTGTAGGGATTTTTTGCCAATTCCATGCGTGTTCAATAAAGAGGTCAGGAAAGGGTTTTTTCAATGCCAAAAATATTAGTAATATATTAGATACAAATTAATGATTCGATAAACAGAGCTCTGAGTCACATTACACCAACACAATAAAAGAATTACATTCAGAAGTTTTGCAACAACTCTGCATTTCCCTGACTCCAGTATTTATACACAACTGGTATTAAAAGGCAAAGTTTTGGTGGAATTCATCACTTGTCAATCATCCTGTCAGTTCATCACTTGTCAATCATCCCACACCCAGGCATACTTCCCCTTTATGTCAAGTTTTCTGTGCACATAAGCTGACATTATTATCAGATAAAGTATGCTCTGCAACATTCTGTCTTCACACCTTTTTCATTAAGTTATTTTCATACATCGAGGTCACAGGAAACTTCTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37331
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113061 Essential Splice Site 365 588 11 17
ENSDART00000113061 Essential Splice Site 365 588 11 17
Genomic Location (Zv9):
Chromosome 21 (position 26866534)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 27435445
GRCz11 21 27472140
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTACACATGTACAGAGACAAAAACCTTATCGGCACTATCAAGACTCCGG[T/C]AAGAACTGTCTTTGATACATTTGGGTTTGGGTTGTGATATGGTGAAAGCT
Long Flanking Sequence:
GCTGAAACGATATATTGTGCAGCCCTACTCCAGTGCCACTAATAAGAAGTGTTTCTGAATTACTGTATGTAAAAAGGCCAAATAAACAGATAAGCAACATGCACATGTATATGCTTTCTTGTCTTTAAGGGATTCCCCAAAGCCCAAGTACTGCATTGAGCTGTCCTCTCACCCAGTGGGACTGGTTAGAATGGGAAAGAATGTGGTTGTAGGATGTACTCATGAGACACTGCATGGTTACACTCAAAAGGTATGATAAACAAATCCATATTTTTCACCCTGGAAGTAATGCCTGTGGGGTTGTCTCTTATATGAATCTCTTATATGAATTGTCGTCCAGGGGAAAAAGCTGTGGACAGCTTATTTGCCAGCCCCTGTTACCACCATGGCACTGATGGATCTCCCCACACGAGGATTCCAGGCTGTGCTGGTCGGTCTGGCCAACTGTGAAGTACACATGTACAGAGACAAAAACCTTATCGGCACTATCAAGACTCCGG[T/C]AAGAACTGTCTTTGATACATTTGGGTTTGGGTTGTGATATGGTGAAAGCTATTTATGGAGTAGGTGTAGGGATTTTTTGCCAATTCCATGCGTGTTCAATAAAGAGGTCAGGAAAGGGTTTTTTCAATGCCAAAAATATTAGTAATATATTAGATACAAATTAATGATTCGATAAACAGAGCTCTGAGTCACATTACACCAACACAATAAAAGAATTACATTCAGAAGTTTTGCAACAACTCTGCATTTCCCTGACTCCAGTATTTATACACAACTGGTATTAAAAGGCAAAGTTTTGGTGGAATTCATCACTTGTCAATCATCCTGTCAGTTCATCACTTGTCAATCATCCCACACCCAGGCATACTTCCCCTTTATGTCAAGTTTTCTGTGCACATAAGCTGACATTATTATCAGATAAAGTATGCTCTGCAACATTCTGTCTTCACACCTTTTTCATTAAGTTATTTTCATACATCGAGGTCACAGGAAACTTCTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13530
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
Order Allele From EZRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113061 Nonsense 550 588 16 17
Genomic Location (Zv9):
Chromosome 21 (position 26871327)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 27440238
GRCz11 21 27476933
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTGCTGGTTCCAGGGCTAAATTACCCTATTGACACTTTTGTGGAGTGCT[T/A]RAGCGACAAAGGCGTCTCKGACATTATCAAAGTGAGACNNTTTTTTTNTCT
Long Flanking Sequence:
GCACCGGGCATTTCAGATGGACCTGAGCAGGCTGCGTTTAGCTGCAGCACGGGCCTATGTCAAAGCCCTGGAGTCCAGCCTCACACCAATGTCCGCCAGCCTGACTGAGCCACTCAAGATGAACGCTGTGGTGAGTTGAGCAATTCAGAACAAGATGACACCGGATGAGTGATACTGATCTCCACTTCTGCTTTCCATTTCTGCAAAGGTTCAAGGGCTGGGTCCATCTTTCAAGCTCACTCTGAATATCCAGAACACTGCTGCGTCCCGTCCTGTTATGAACCTAGCCATCAGTTTTCTGTATGATGAAAGTTTGTACAGCATGAGAACGGCTTTCTTTAAGGTGACCTCACCCTAAAACTTTCACAGTGATATGAGCAGATGTTTTTAATGTCTAGTTATTGAAGTGTTTTGCTGGTAATCATGAGCTGTTGTGTGTTTGTAGATCCCCCTGCTGGTTCCAGGGCTAAATTACCCTATTGACACTTTTGTGGAGTGCT[T/A]GAGCGACAAAGGCGTCTCGGACATTATCAAAGTGAGACTTTTTTTTTTCTTTCTTCAGAACATTGATGCTGGGTTTGTATCGTCTGAATGGATCGTAAGAGATTCGCATTATAGAAATTAAAAATATTTTTACTATGAGTGTTTACGTCTTAAACCTTGTCATGTACCTTCTATAAGGCATACATATCAACTACATTAACACTGATCACAATATATCACAAAAAGTAGTGATGTTGAAATGAAGCTTTCTTAACTGACCAACTCATTCATGTAGTAATACAACAGTAGTAATATAAAAAAAAATACTCAATAACTGTAGTTTTTTTACATATAAGGTATGTTACATTACAGCACTGATGATTGTAGTAAAAAGCAAGGTATTTAAAAGTATTAATGTTTATCGTATTCCAACCTGTCCTACCCTCTTGTTCTGAGCGGGGATCAAACTGGTGATTCCTGCATGGGAGGCGAATGCTCCAAGAAGGCTATGGGAGTGAGAC
Associated Phenotype:
Not determined