Search Zebrafish Mutation Project
e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
You can look for mutant lines by browsing a complete list or by searching for a particular gene
hpd
- Ensembl ID:
- ENSDARG00000044935
- ZFIN ID:
- ZDB-GENE-040808-62
- Description:
- 4-hydroxyphenylpyruvate dioxygenase [Source:RefSeq peptide;Acc:NP_001003742]
- Human Orthologue:
- HPD
- Human Description:
- 4-hydroxyphenylpyruvate dioxygenase [Source:HGNC Symbol;Acc:5147]
- Mouse Orthologue:
- Hpd
- Mouse Description:
- 4-hydroxyphenylpyruvic acid dioxygenase Gene [Source:MGI Symbol;Acc:MGI:96213]
Alleles
There are 3 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa25400 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
| sa27241 | Nonsense | Mutation detected in F1 DNA | During 2018 |
| sa21339 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa25400
- 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 |
|---|---|---|---|---|---|
| ENSDART00000066050 | Essential Splice Site | 199 | 393 | 9 | 14 |
- Genomic Location (Zv9):
- Chromosome 8 (position 35874853)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 8 34803277 GRCz11 8 34738077 - KASP Assay ID:
- 554-7620.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- ATGTGGTTGGAAATCAGCCTGACAGTGAGATGGTGCCAATAGTGGAGTGG[T/A]AAAAAAAACTTTTCTGAAAACACATTGTTGAACTTTCTTCAGATCTGATC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa27241
- 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 > G
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000066050 | Nonsense | 232 | 393 | 10 | 14 |
- Genomic Location (Zv9):
- Chromosome 8 (position 35876733)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 8 34805157 GRCz11 8 34739957 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CAGTTGCAGACTGAATACAGTGCGCTGCGCTCCATAGTGGTGGCCAACTA[T/G]GAAGAAACTGTCAAAATGCCAATCAATGAACCAGCCATGGGAAAGCGCAA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa21339
- 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:
- G > T
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000066050 | Essential Splice Site | 277 | 393 | 11 | 14 |
- Genomic Location (Zv9):
- Chromosome 8 (position 35876956)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 8 34805380 GRCz11 8 34740180 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GAGCGGGGGTTCAACACATCGCTATGAACACCTCTGACATTATTTCAGCT[G/T]TGAGTAAACTACAGACAGATTTCACACTAATGGATTCATTGAGAAGACCC
- 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)
- Urinary metabolites: A genome-wide association study of metabolic traits in human urine. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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:
