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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch211-136i24.1
- Ensembl ID:
- ENSDARG00000079496
- ZFIN ID:
- ZDB-GENE-081031-9
- Description:
- Novel protein similar to vertebrate bicaudal D homolog 1 (Drosophila) (BICD1) [Source:UniProtKB/TrEM
- Human Orthologue:
- BICD1
- Human Description:
- bicaudal D homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:1049]
- Mouse Orthologue:
- Bicd1
- Mouse Description:
- bicaudal D homolog 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1101760]
Alleles
There are 5 alleles of this gene:
Allele name | Consequence | Status | Availability Estimate |
---|---|---|---|
sa17748 | Nonsense | Available for shipment | Available now |
sa16298 | Nonsense | Available for shipment | Available now |
sa14781 | Nonsense | Available for shipment | Available now |
sa390 | Nonsense | Available for shipment | Available now |
sa36586 | Splice Site, Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa17748
- Current 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
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000112671 | 222 | 854 | 4 | 8 | |
ENSDART00000140854 | Nonsense | 222 | 820 | 4 | 7 |
ENSDART00000112671 | Nonsense | 222 | 854 | 4 | 8 |
ENSDART00000140854 | Nonsense | 222 | 820 | 4 | 7 |
- Genomic Location (Zv9):
- Chromosome 18 (position 11553609)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 18 12136539 GRCz11 18 12105257 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AGTGCTTGAAGAAGAAACGGTGCTGCTCAACAGTCAATTAGAAGAYGCTT[T/A]ACGGTTAAAAGACATTTCCCAAGGCCAGTTGGAGGAAGCGTTGGATTCTC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa16298
- Current 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
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000112671 | 222 | 854 | 4 | 8 | |
ENSDART00000140854 | Nonsense | 222 | 820 | 4 | 7 |
ENSDART00000112671 | Nonsense | 222 | 854 | 4 | 8 |
ENSDART00000140854 | Nonsense | 222 | 820 | 4 | 7 |
- Genomic Location (Zv9):
- Chromosome 18 (position 11553609)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 18 12136539 GRCz11 18 12105257 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AGTGCTTGAAGAAGAAACGGTGCTGCTCAACAGTCAATTAGAAGAYGCTT[T/A]ACGGTTAAAAGACATTTCCCAAGGCCAGTTGGAGGAAGCGTTGGATTCTC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa14781
- Current 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:
- A > T
- Consequence:
- Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000112671 | Nonsense | 431 | 854 | 5 | 8 |
ENSDART00000140854 | Nonsense | 431 | 820 | 5 | 7 |
- Genomic Location (Zv9):
- Chromosome 18 (position 11560011)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 18 12142941 GRCz11 18 12111659 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- GTTGCTGTGAGTTTGARACWGACATCAATGGAATAGAGCTTYTAGAGTGC[A/T]AATACAGAGYTGCCGTGACTGAGGTCATTGACTTGAAGGCGGAGCTTAAG
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa390
- Current 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:
- A > T
- Consequence:
- Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000112671 | Nonsense | 613 | 854 | 5 | 8 |
ENSDART00000140854 | Nonsense | 613 | 820 | 5 | 7 |
- Genomic Location (Zv9):
- Chromosome 18 (position 11560557)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 18 12143487 GRCz11 18 12112205 - KASP Assay ID:
- 554-0252.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- CGAAGGAACCCCTTGGAGACGGAATTAAAGGGGAAGGAGGAAGTCCCAAT[A/T]GAACCCCATTTGGCTCACCAATCAATGGTTCATCTCTCTCATCCTCCACA
- Associated Phenotype:
Normal
Stage Entity Quality Tag Larval:Day 5
ZFS:0000037whole organism
ZFA:0001094quality
PATO:0000001normal
PATO:0000461
Mutation Details
- Allele Name:
- sa36586
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- C > T
- Consequence:
- Splice Site, Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000112671 | Splice Site, Nonsense | 718 | 854 | 5 | 8 |
ENSDART00000140854 | Splice Site, Nonsense | 718 | 820 | 5 | 7 |
- Genomic Location (Zv9):
- Chromosome 18 (position 11560872)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 18 12143802 GRCz11 18 12112520 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CCAAAAGAGAGCAGATCGCCACCTTACGTCTTGTCCTAAAAGCCAACAAA[C/T]AGGTAGAAGACCAAGTCTTTGCAAGAACTACTTTTAAATTGAGTAATAAA
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Emphysema-related traits: Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. (View Study)
- Normalized brain volume: Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (View Study)
- Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
- Pancreatic cancer: Genome-wide association study of pancreatic cancer in Japanese population. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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