Search Zebrafish Mutation Project
e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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zgc:136472
- Ensembl ID:
- ENSDARG00000058445
- ZFIN ID:
- ZDB-GENE-060421-2552
- Description:
- protein disulfide-isomerase-like protein of the testis [Source:RefSeq peptide;Acc:NP_001035331]
- Human Orthologue:
- PDILT
- Human Description:
- protein disulfide isomerase-like, testis expressed [Source:HGNC Symbol;Acc:27338]
- Mouse Orthologue:
- Pdilt
- Mouse Description:
- protein disulfide isomerase-like, testis expressed Gene [Source:MGI Symbol;Acc:MGI:1919080]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa18316 | Nonsense | Available for shipment | Available now |
| sa32593 | Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa18316
- 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 |
|---|---|---|---|---|---|
| ENSDART00000055011 | Nonsense | 13 | 510 | 1 | 11 |
- Genomic Location (Zv9):
- Chromosome 1 (position 8325940)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 1 8565745 GRCz11 1 9249856 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- TCCTGCAGGCAGTATGAAGGTGGASGTTACGTTGYGTTTRATTGTGTGYT[T/A]ATTTTTACACCAAACTCTGGCCGRGAGTCAATCARATTCAATCGTCGAGG
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa32593
- 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:
- A > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000055011 | Nonsense | 202 | 510 | 4 | 11 |
- Genomic Location (Zv9):
- Chromosome 1 (position 8320624)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 1 8560429 GRCz11 1 9244540 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- ACGTTGCCGATCTGCCGTTTGGAGTAACGAGACATCATGAAGTTTTCAGC[A/T]AGTTTGAGATCAGCAGAGACTCTGTTCTCCTCATCAGAAAGGTCAGCTCT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Chronic kidney disease: New loci associated with kidney function and chronic kidney disease. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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