ZMP
pes
Ensembl ID:
ZFIN ID:
Description:
Pescadillo [Source:UniProtKB/Swiss-Prot;Acc:P79741]
Human Orthologue:
PES1
Human Description:
pescadillo homolog 1, containing BRCT domain (zebrafish) [Source:HGNC Symbol;Acc:8848]
Mouse Orthologue:
Pes1
Mouse Description:
pescadillo homolog 1, containing BRCT domain (zebrafish) Gene [Source:MGI Symbol;Acc:MGI:1890613]
Alleles
There are 7 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa9660 | Nonsense | Available for shipment | Available now |
| sa16092 | Essential Splice Site | Available for shipment | Available now |
| sa20356 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa9660
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000023101 | Nonsense | 4 | 583 | 1 | 15 |
The following transcripts of ENSDARG00000018902 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 14039469)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 12336906 |
| GRCz11 | 5 | 12837123 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ANTAAGTTTTGCCGAGTGACAAAACGCAGAYACCGCTGCCATGGGCGGAT[T/G]ACAAAAGAAGAAGGTAAGACYGAGATTCAGAACAAAACTATTRTAAACAA
Long Flanking Sequence:
ATATTAACTGTAATTTTACCGCATATCGTATGTTACAGTAACTTTATATGTATATTTGCCTTAAATACACAAAACTGTTGAACTGTATATATATAACAGTATAACAGTTTTGTGTATTTAAGGCAAATATACATATAAAGTTACGGTAACAGACGATATGCGGTAAAATTACAGTTAATATGCATTAGCTTGCAATATATAGTAGCTATTCTATCTATCTACCATATAACAATGTTTTATTATAGACGTATATGATGTAATATGTGAAGTAAAAAATTATTGACATACGCCAGCGATTCTCATGAATTTCTACGCAGGCATTCGCTCGGGTGAGCAAAATCCCAGGGTCCTACTCTCTCGGCTCTCTGGCGTCACACAAAACACGTGTGTTCTGGAGACGCACGTTAGCGCTGAAGTATATTTGCTGTGTTTATTTACAGTGGTTTTTATATTAAGTTTTGCCGAGTGACAAAACGCAGATACCGCTGCCATGGGCGGAT[T/G]ACAAAAGAAGAAGGTAAGACCGAGATTCAGAACAAAACTATTGTAAACAAAACGTGATATCTTGTTGAGCGCATGGCCCTTTTGCAGGCTTCTGAACACAGTCGGTATTGTAGTGTTTACTTATAGCCAAATGGCATACGATATGTTTAATTGGTTTATTTTGACGTGGACCCTTAACTGTAATGTCTAGTTTCAGTTAATTGCAGCTTTGACTGACAGCGTATCATGAGTAAAACATATCTGTGTGAAAAAAATGTGTCGTGCATTTACAGCATGCTCTATCGTTATGTGTTAACTTGACGTTTCTTCTTGTTTAGTATGAGAGTGGGTCAGCCACTAACTACATCACCAGGAATAAAGCTCGTAAGAAGCTGAGTCTGAGTCTGGCTGATTTCAGGTTGGTTTACACATCTGTCACACTCGCTTCTAGGGCTTCACGATGTTGGAAAACTCTGACATTGCGATGTTTTTTTTTTCCTGCTGTAAATATGTTGACATGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16092
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000023101 | Essential Splice Site | 123 | 583 | 4 | 15 |
The following transcripts of ENSDARG00000018902 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 14042215)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 12339652 |
| GRCz11 | 5 | 12839869 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGAAAGAAAACAAGCCTGGCTACAAACTGGACCACATCATCAAGGAGAGG[T/C]GAGGGTGAACGCAGTGCTTTCTGTGAACTGCAGAKGGCAAACTTGAGCTC
Long Flanking Sequence:
GAAAAACCATCTATCAATATTCCATCATATACCGTCCCCTTTCCAGTTGTACACATTTGTTGCTCTGCAAAGCTCAGTTCCACATGAAAATGACTAAAAGCATGTGCTGTAATGTAACGTTTGCAGCATGGGATACGCATCATTCATTAATGTATGTTCGAATCATTAATGTTTTTTAAAAGCTTGAAAAAGCGCATGGTGTGTGTGCGTGTGTGCCGCACTTAGCCTTAAAGCTAAAGATGTTTAAAGCAGTTTAAACATAACAGATTTAATAACTCATTTCTTTTATCTTTGCTATGATGACAGTACATTATATTTTACTAGATATTTTTCAAGATATTTTTTGTGATATATTTTCACATCCTGAAATCTTTCTTCCCTGATTATAGATCTTTGTCCGGAAGCTGCGGAAAGCGTATGGGAAGGCTGAGTGGAGCGCAGTGGAGAGACTGAAAGAAAACAAGCCTGGCTACAAACTGGACCACATCATCAAGGAGAGG[T/C]GAGGGTGAACGCAGTGCTTTCTGTGAACTGCAGATGGCAAACTTGAGCTCTCAGATCCCTCATAACGGCCTGTTCATTTTTCCATGCGGTGTTATGTGATAAGCACCTATTTGTGTCCAAACACTGTTGTGAGAACGAGCCTTGGTTCATGTCCACAAACAGATCAGTTATGAGAAATCCAAAAAGTCATATGAATATGACAACTATGAATATGATACTTTAATTATCATGGCTGGGCCGTCTGTCTCATAGACTGTCTGTCTCCCATTCATCTGCCACCATGCACAACTGTCACATCAGCAGCTTTTGGGATTTGGGATGTTTTTCCAACATTGTTTTTTTCAATGTGGAACACAAATGTTTAAAGGTTTACTGTCACCCTCTTCAAATTCTCACTGAGGCAGAATTATTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTAGGGATGTGCGGAGCAGCCGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20356
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000023101 | Nonsense | 171 | 583 | 5 | 15 |
The following transcripts of ENSDARG00000018902 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 14047643)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 12345080 |
| GRCz11 | 5 | 12845297 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCCAGACAATTCAGCTGTGTCGGAGACTCAGTGTTGAGTGGATGAACTA[C/A]ATCATCTCCTCACGCTCCCTAAGAAAGGTACATTTAAATGGTTTGAATTA
Long Flanking Sequence:
ACCCATTCAAGGTGAATGGGAAGTGTTGAATCGGGCATTAGAGGGCAACGTTAGTTTTATATTAACGTTAGATTTTATTTTATTACTATCTTTTTTTAATTAAACAAACAGCATTTCTCTTAAATGTCACCACTTTCACTTTTGATCAATTGAATGCCTCCCCAAAGAATGATTATTCTGGGTATTTTAGTCTGGTAAAATATTAAAATGTTAATAATAAACTTTCTTTTCAGCATTTACAAATTTAGCTTAATTAATTCACATTCCTTTTAAGTGTTTTGAGCCGCCAAATGATTAATGTCCTTCCTGTCGTGTTGTCTTTGTATACAGTCTCTAAAATAAGTTTGTTTTCCCAGGTATCCCACGTTCATTGATGCTCTCCGAGATGTGGACGATGCCCTTTCTATGTGTTTTCTGTTCTCTACATTCGCTCGTACTGGAAAATGCCACGTCCAGACAATTCAGCTGTGTCGGAGACTCAGTGTTGAGTGGATGAACTA[C/A]ATCATCTCCTCACGCTCCCTAAGAAAGGTACATTTAAATGGTTTGAATTATAATAATTGTTTTTAAATGGTCAGTCTCTTTAATCTTCATCTGGAGAGCCAGCTGTTGGAGTGTTTCAGTCACTTCAGGCTTTTTGCACTGGTGTGCTTTCAGTTTAAAAATGTTACTTTAGAATAAAAATCCTCAAGTAGAGTAAAAGCTCCCTGTTTAGGCTGGTGTTTTTACTACATTTGAGAATCTCAGGATTCAAGCTCATTGAGTGTCTGCATATTTTACCAGCATTCATTCTTGCCATCTACTGTACTAATCAGGGAATGATATACAGCTTATGGTCATACCACTGTTACCGTGCCTGATCTTGTCTGATTTTAGAAGATGAATATACACAGGACATCCAGCGGCTATTGTTTTTTTAGTCGGTCTACCAAAATCTATCTACACCGTGCCCACCGGGCTACCTATGAGCAGCACCAGACAATGTTGTAGATTAATTTTGGTAG
Associated Phenotype:
Not determined