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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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arl13b
- Ensembl ID:
- ENSDARG00000012763
- ZFIN ID:
- ZDB-GENE-021217-3
- Description:
- ADP-ribosylation factor-like protein 13B [Source:UniProtKB/Swiss-Prot;Acc:Q8JHI3]
- Human Orthologue:
- ARL13B
- Human Description:
- ADP-ribosylation factor-like 13B [Source:HGNC Symbol;Acc:25419]
- Mouse Orthologue:
- Arl13b
- Mouse Description:
- ADP-ribosylation factor-like 13B Gene [Source:MGI Symbol;Acc:MGI:1915396]
Alleles
There are 3 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa25614 | Essential Splice Site | Mutation detected in F1 DNA | During 2015 |
| sa17422 | Nonsense | Available for shipment | Available now |
| sa25615 | Nonsense | Mutation detected in F1 DNA | During 2015 |
Mutation Details
- Allele Name:
- sa25614
- 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 2015.
- Mutation:
- T > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000102184 | Essential Splice Site | 162 | 407 | 4 | 10 |
| ENSDART00000122316 | Essential Splice Site | 162 | 261 | 4 | 5 |
- Genomic Location:
- Chromosome 1 (position 33315606)
- KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CCTGTCATTGGAGAAGCTAGTCAACGAAAATAAATGCCTTTGCCAGATTG[T/A]AAGTTAATATTTCATCACAATTTATTATAACCGGAGTCTGGTTTGATAAT
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa17422
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- Mutation:
- C > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000102184 | None | 407 | None | 10 | |
| ENSDART00000122316 | Nonsense | 249 | 261 | 5 | 5 |
- Genomic Location:
- Chromosome 1 (position 33316043)
- KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AGCTTACWAAACTKCAGATTGTTGCTGCTTAAMGCCTGGTTTATRCTCTA[C/A]GYGCCAGCTWGTTYGCTTGAGTGCGTGCAGCGAATGTGACGTCATCRCAG
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa25615
- 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 2015.
- Mutation:
- C > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000102184 | Nonsense | 270 | 407 | 7 | 10 |
| ENSDART00000122316 | None | 261 | None | 5 |
- Genomic Location:
- Chromosome 1 (position 33319787)
- KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GGCGAACTCATTAGAATGCAAATACTCACTTTATATAAAAATTCCAGAAC[C/T]AAGACAGACTAAACAGAGAAAAAGAGATGCAAAGACAGAGGGAAAATGGC
- Associated Phenotype:
- Not determined
Register
If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:
- Connect with us:
Wellcome Trust Sanger Institute, Genome Research Limited (reg no. 2742969) is a charity registered in England with number 1021457
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