Busch Lab

ZMP

bbs2

Ensembl ID:
ENSDARG00000041621
ZFIN ID:
ZDB-GENE-020801-1
Description:
Bardet-Biedl syndrome 2 protein homolog [Source:UniProtKB/Swiss-Prot;Acc:Q98SP7]
Human Orthologue:
BBS2
Human Description:
Bardet-Biedl syndrome 2 [Source:HGNC Symbol;Acc:967]
Mouse Orthologue:
Bbs2
Mouse Description:
Bardet-Biedl syndrome 2 (human) Gene [Source:MGI Symbol;Acc:MGI:2135267]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa172 Nonsense Confirmed mutation in F2 line Not yet available
sa2952 Nonsense Available for shipment Available now
sa248 Nonsense F2 line generated Not yet available

Mutation Details

Allele Name:
sa172
Status:
Confirmed mutation in F2 line
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
ENSDART00000061000 Nonsense 48 715 3 18
Genomic Location (Zv9):
Chromosome 18 (position 17188405)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 17540171
GRCz11 18 17529237
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTTTTTATTTTTAAACCTATCCAGGTGTTTATCCACAACCCTCACACT[C/T]GAGCCCAGAGACCAACAGCCCACCGGTTGAGTCAAAGCACCCAGGACTCG
Long Flanking Sequence:
GCTGAGCCACAATGCTAGTGCCCATCTTCACACTTAAACTGAACCATAAAATAAATCCTCGAATGGTTGCTATTGGAAAGTATGATGGAATACATCCATGCCTTACCGCAGCCACACAAGCAGGGAAGGTAAAGTAAAAGAATTACATAGTATGTATCCCAATTCAAATACAGCTAATGTAAATAGATCCAGAGTTCAAATATATTCATACAGAGAGCAGTGCCAATTTTGTCCTTATTTGTTGTATGTGATTAGAATGGACTTCATAGAAGTTTTAGCTATGCCAGTTTTAATCCTCTATCCTCTTTACAAATTAACAAGCAGCATCTTTTGGTGCTCTTGAGTGTGTGCATTTGCTATTAAAGTTGATATTTAATATGCAATAAGTTAACTGAACTTAGCATATAATTTTCTAGGGTTTCATTTGCATTTTTCCCACACATTACAATCCAGTTTTTATTTTTAAACCTATCCAGGTGTTTATCCACAACCCTCACACT[C/T]GAGCCCAGAGACCAACAGCCCACCGGTTGAGTCAAAGCACCCAGGACTCGGACATCTCACTGCTTAATATCAACCAGTCAGTCAGCTGTCTGACCGCTGGCACTTTAGGACCAAAGAGCACAGGGGACACGCTGCTCGTAGGCTCTCAAACCAACCTGTTGGCCTATGACGTTCATGACAACACCGACGTCTTTTACAAGGAGGTAACATGACGTGATTGTTTATAAAATCCCTAATTTAGAGTGGATTTCCTACTTAAGTTGTTGATATCAGATATTAAACCTCATTTTGTAAAAAATAATACCTTACCATAGACCGTGACAATCAAACTGCATTGTTGAAATGAAAAATACAGAAGTTTTTTATTACAAATGTCAACTTTTACTATGCAAAAATGCTTTTCTTCCTTAGAGCTTTTTTATTTCTAGTCCAAATATCTAAACAATTTACAGGGGTGGTCCACTACGATATCATATTTTAAACTTTAGTTGATGTGTAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2952
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061000 Nonsense 353 715 10 18
ENSDART00000061000 Nonsense 353 715 10 18
Genomic Location (Zv9):
Chromosome 18 (position 17183870)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 17535636
GRCz11 18 17524702
KASP Assay ID:
554-2602.1 (used for ordering genotyping assays)
KASP Sequence:
ACCTGATCAGAGAGCTGAGTCAACGGAAACAGAACTTGATGCTYGAGTTR[C/T]GAAACTATGAGGAAAATGCCAAGGTTAGACATGCTATTCAAGTGATSCAT
Long Flanking Sequence:
GTCAAAAAATCATGCCATGAGTATCCACGCTTTTGACCTTAACGCTGATGGTGTTGTTGAGCTCATAACTGGATGGTCCAATGGAAAGGTCAGTCTTATAGACACATTTGCCTTGCAATATATATACTATATTAGTAAAATCAGATGACTTCCTGTGATTCCATATTTAGATTGACGCTCGTAGTGATCGTACTGGTGAGGTGATCTTCAAGGATAACTTCTCATCCTCTGTGGCCGGGGTTGTTGAGGGAGATTATCGGATGGACGGACAGATCCAGCTCATATGTACGTCTGTGGAGGGAGAAGGTAAGACGTTGGACCGTTATTTTAAATGCTTGACTGTTACCTTTGTGAATTGGCTCAAATATATGTGCCATTCTACAGTACGTGGCTACCTGCCTGCCAGTAAGGAGATGAAGGGAAACCTTATGGACTCAAGCATAGAACAAGACCTGATCAGAGAGCTGAGTCAACGGAAACAGAACTTGATGCTTGAGTTA[C/T]GAAACTATGAGGAAAATGCCAAGGTTAGACATGCTATTCAAGTGATCCATATTGATGTTGCATATGCAGTTGTGGCTAGTGGTATTTGTTTGACATAGGCTCTTCCTGGGCTTTCGGAGGGAGAATCTAAGATGGGTGTAATTCCAGCCAACACGCAGCTCCAGACGGCCCTCTCTGTAAGAAGAGCCTCGGAGAGCCAGAAAGCACACATAGAGCTCAACATCTCCACTCCAAATGGTACAGTTTAAGCTGTTCTCTCTCTGTGGTTGGTTATATAATCCACTTGTTCTAAGCTAGCCGCACACTTGAACTGATTTCTTTAGTCTTTGCCATGATGACAGTACATAATATTTTACTCATTATTTTACAAGATTCTTGTATTCAGCTTAAAGTGCAATTTAAAGGCTTAACTTGGTTAACTGGGTTAACTAGGCCATTAAGGTAAATTAGGCAAGACATTGGAGTGGTTTGTTCTGTAGCCAATTGGAAAAACTTTTTTG
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461

Mutation Details

Allele Name:
sa248
Status:
F2 line generated
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
ENSDART00000061000 Nonsense 353 715 10 18
ENSDART00000061000 Nonsense 353 715 10 18
Genomic Location (Zv9):
Chromosome 18 (position 17183870)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 17535636
GRCz11 18 17524702
KASP Assay ID:
554-2602.1 (used for ordering genotyping assays)
KASP Sequence:
ACCTGATCAGAGAGCTGAGTCAACGGAAACAGAACTTGATGCTYGAGTTR[C/T]GAAACTATGAGGAAAATGCCAAGGTTAGACATGCTATTCAAGTGATSCAT
Long Flanking Sequence:
GTCAAAAAATCATGCCATGAGTATCCACGCTTTTGACCTTAACGCTGATGGTGTTGTTGAGCTCATAACTGGATGGTCCAATGGAAAGGTCAGTCTTATAGACACATTTGCCTTGCAATATATATACTATATTAGTAAAATCAGATGACTTCCTGTGATTCCATATTTAGATTGACGCTCGTAGTGATCGTACTGGTGAGGTGATCTTCAAGGATAACTTCTCATCCTCTGTGGCCGGGGTTGTTGAGGGAGATTATCGGATGGACGGACAGATCCAGCTCATATGTACGTCTGTGGAGGGAGAAGGTAAGACGTTGGACCGTTATTTTAAATGCTTGACTGTTACCTTTGTGAATTGGCTCAAATATATGTGCCATTCTACAGTACGTGGCTACCTGCCTGCCAGTAAGGAGATGAAGGGAAACCTTATGGACTCAAGCATAGAACAAGACCTGATCAGAGAGCTGAGTCAACGGAAACAGAACTTGATGCTTGAGTTA[C/T]GAAACTATGAGGAAAATGCCAAGGTTAGACATGCTATTCAAGTGATCCATATTGATGTTGCATATGCAGTTGTGGCTAGTGGTATTTGTTTGACATAGGCTCTTCCTGGGCTTTCGGAGGGAGAATCTAAGATGGGTGTAATTCCAGCCAACACGCAGCTCCAGACGGCCCTCTCTGTAAGAAGAGCCTCGGAGAGCCAGAAAGCACACATAGAGCTCAACATCTCCACTCCAAATGGTACAGTTTAAGCTGTTCTCTCTCTGTGGTTGGTTATATAATCCACTTGTTCTAAGCTAGCCGCACACTTGAACTGATTTCTTTAGTCTTTGCCATGATGACAGTACATAATATTTTACTCATTATTTTACAAGATTCTTGTATTCAGCTTAAAGTGCAATTTAAAGGCTTAACTTGGTTAACTGGGTTAACTAGGCCATTAAGGTAAATTAGGCAAGACATTGGAGTGGTTTGTTCTGTAGCCAATTGGAAAAACTTTTTTG
Associated Phenotype:
Not determined