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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch211-288h2.6
- Ensembl ID:
- ENSDARG00000078318
- ZFIN ID:
- ZDB-GENE-090312-131
- Human Orthologue:
- TMOD1
- Human Description:
- tropomodulin 1 [Source:HGNC Symbol;Acc:11871]
- Mouse Orthologue:
- Tmod1
- Mouse Description:
- tropomodulin 1 Gene [Source:MGI Symbol;Acc:MGI:98775]
Alleles
There are 2 alleles of this gene:
Allele name | Consequence | Status | Availability Estimate |
---|---|---|---|
sa19446 | Nonsense | Available for shipment | Available now |
sa39566 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa19446
- 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 |
---|---|---|---|---|---|
ENSDART00000111485 | Nonsense | 4 | 356 | 1 | 9 |
- Genomic Location (Zv9):
- Chromosome 1 (position 11527858)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 1 11544687 GRCz11 1 12231487 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TTTTTTTTCTATCCCCTCCTTCCCCCTTTTTGTCATTCATCATGCTTCGT[A/T]AAGAGATGGAGAAGTACCGGGATGTGGATGAGGATGAGCTTTTGCAGAAG
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa39566
- 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:
- T > A
- Consequence:
- Essential Splice Site
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111485 | Essential Splice Site | 338 | 356 | 8 | 9 |
- Genomic Location (Zv9):
- Chromosome 1 (position 11548124)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 1 11564953 GRCz11 1 12251753 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GGCCCACGCTTGCGTGGATCCAATGCTATGATGAACAACAACGACATGGG[T/A]AAGAAGTACACTCACACTGAGAAATAATTTTTAGAGCTAATTTTGGAGAT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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