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 |
sa6964 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa45188 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa40366 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa26419 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
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
Mutation Details
Allele Name:
sa6964
Status:
Mutation detected in F1 DNA
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:
Not yet available
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 | 210 | 583 | None | 15 |
The following transcripts of ENSDARG00000018902 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 14049942)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 12347379 |
GRCz11 | 5 | 12847596 |
KASP Assay ID:
554-5393.1 (used for ordering genotyping assays)
KASP Sequence:
TTTGGGACAGACCRTCACATGGATCRTACCATATCAGTTTGCCCATAATG[T/C]AAGTATAACATATTTTTGAAAACATTTTTGTGGATTCTTCAGTATTCATT
Long Flanking Sequence:
AGGTCCAGTGAAATTAAAATAATATTTTTCAGATGTTAGAATCAGTAATGTTTTTAGGATATCTATAACTTCACGGGACCTTTAATCAACACCTATTTTTGTCTGAAGAACAATAAAAAATTTGATCCACCTCAAATATTGACTACTATGTCATGACAGATTGATTGCTACAATTTGTTGTGTTGTGAGCTGCCTCATAATCTGATCATAGCCTCAGACTTCAGCTGGTGACATTTGCTGGTCATATTAGAGTGCCAGAGGGATAAAATCGTTCGAGAAATTCAGCAACGATTCTGAGATTTTTAAAATGCATCGCCTTGAATAGATTCTGAGCTCAGCTTTAGCAGCAGATGGTGTGTTTTAACCTTTTTCTATCACCTTTGATTGATACTGTTTTCTTTTTTTGTAGGTTTTTCTTTCCATTAAGGGTATTTACTATCAGGCAGAGGTTTTGGGACAGACCATCACATGGATCGTACCATATCAGTTTGCCCATAATG[T/C]AAGTATAACATATTTTTGAAAACATTTTTGTGGATTCTTCAGTATTCATTCAGTCAATGACCTAAGGGTCAGACTTTCGTTCACCGTTTATCAACGAAACCTGGAAAACTGAGAAGGTAAATATGGTCATTTTTCCACAGGAGTAGCTGAAAATTGATGCTGCTTTGTAGCATTCCAAGAATACAGGCTATTATTCTGTTATTAGTACTTGCTTGGGTGGCTCAGGTTTTGTGTATTTCTGTCTTTTTATATATTTACATATTCACTATCATGTTGAGGACATGTTCTCTTTCTGTGGATTGTTTAGGTACCAGTTATGGGAAAAGCTCAATAAAAAATAAATTAAACCAAACAATACACACCCTACACATCTGCTGTTAACTAACTCATGGTAACATGTACAGCACCTCTAATGACTATTGTTATTTAATCACTGGTCATGGATCATTATCAATATTTCAGATGCTGTTGTCCTTCTGCAGATTATTTTATGATGACTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45188
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000023101 | Essential Splice Site | 391 | 583 | 11 | 15 |
The following transcripts of ENSDARG00000018902 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 14059399)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 12356836 |
GRCz11 | 5 | 12857053 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGCATCACATCGTGGACAGACCCAGCATGGACAAACAGTATATCAACAG[G/A]TCTGAAACCAACTCTCTGATCATATACAGTAGCTGTGTTACTGTAGTTTC
Long Flanking Sequence:
CGAATTAAAGCGCAGTTAATAGTGAAATTGGTTAATCGTTGCATCCGTAATCAACAAAAAAGTCAGTGTTAGTTTAATATCAATAATATAAGATTATATTTTTGGTCAGTTTTATTTTTTTTTAATGTTTTTAATTGGGTTAATGTTTTAGCATTTTTGTTGAATGTTTCTGTTATTTTTTATGTCAGTATACTGTTTATTTAGTTTTAGCTGTTTTACAAGAAAAAGTTCTGGCAATTATTAGAAACGGATTTTAATATACATTTTGTTTTAGTTGATTTTAATCCCAAAAAATTTAAAGAAATGTAAAAAAAAAAAAACATTATGAACCTGCACTTTTGTCAGTTAATATAAACATGTCATATGTTGTACAGGTGTTTTGGTGGAGAGGTGTCTTGGGATAAATCCCTGTGCATCGGCAGCACGTATGAAGCCACAGACGAAACAATCACGCATCACATCGTGGACAGACCCAGCATGGACAAACAGTATATCAACAG[G/A]TCTGAAACCAACTCTCTGATCATATACAGTAGCTGTGTTACTGTAGTTTCTGTGTTTACTGTAGTCAGTTTATGCTTGAGTTTTATTTGTATAGCGCTTTTCTGTAATTATAATTTCAAAGCTTTGCAAAAGGTACATATTTTTGCATTACAATCAAATTTGTAAAGGTTAAGATTATTAGTTACCATAAAGTTATTTGTTACTAATAACATTAATTAACTAGTAACCAACAGTTTTTAACAGTTAAAGTTAGTATATATAAACAGTTAACCTGTAGTTCTAAAGTTAATAGATTATGTCTTTGTGTATGTGTTCAATGAAGTGTTTTATGTTTGTGTATTAAGTGTATATTCTTGTGCTTTATGAATTTTTTCAATGGTGCAGATACTACATTCAGCCCCAGTGGGTGTATGACTCTGTCAATGCTAAGATACAGTTACCTGTGGAGGAGTATTTTCTGGGAGTCACACTGCCGCCTCATCTGTCACCGTTTGTGGAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40366
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000023101 | Nonsense | 435 | 583 | 12 | 15 |
The following transcripts of ENSDARG00000018902 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 14059916)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 12357353 |
GRCz11 | 5 | 12857570 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACTGCCGCCTCATCTGTCACCGTTTGTGGAGGAGACTGAAGGAGATTA[T/A]GTGCCGCCAGAGAAACTCAAGCTCATGGCCCTGCAGAGAGGAGAGAAACC
Long Flanking Sequence:
TGATCATATACAGTAGCTGTGTTACTGTAGTTTCTGTGTTTACTGTAGTCAGTTTATGCTTGAGTTTTATTTGTATAGCGCTTTTCTGTAATTATAATTTCAAAGCTTTGCAAAAGGTACATATTTTTGCATTACAATCAAATTTGTAAAGGTTAAGATTATTAGTTACCATAAAGTTATTTGTTACTAATAACATTAATTAACTAGTAACCAACAGTTTTTAACAGTTAAAGTTAGTATATATAAACAGTTAACCTGTAGTTCTAAAGTTAATAGATTATGTCTTTGTGTATGTGTTCAATGAAGTGTTTTATGTTTGTGTATTAAGTGTATATTCTTGTGCTTTATGAATTTTTTCAATGGTGCAGATACTACATTCAGCCCCAGTGGGTGTATGACTCTGTCAATGCTAAGATACAGTTACCTGTGGAGGAGTATTTTCTGGGAGTCACACTGCCGCCTCATCTGTCACCGTTTGTGGAGGAGACTGAAGGAGATTA[T/A]GTGCCGCCAGAGAAACTCAAGCTCATGGCCCTGCAGAGAGGAGAGAAACCACGTGAGGGTTTTACTTACTGCTGTGTAGAGATGCACTGATTTTCTTTGCTAATTACTATTTTTTTTAATTTTTATTATTAATATTTTTTGGCAGGGCTGTGACCTGTCTATATGTACGTATGGTCATTTTACAGCTCCGTTGGGTTAAGTTTTACCATTTTTGAATCCATCAAGTCTATCTCCGGGTCTGGCGGGAGTACTTTTAGCTTAGCATAAATCATTGAATTGGATTAGACCATTAGCATCTGACTATTAAAAGTAAAATTAATTCCTTTTCAGATTTTTTTGTGATGATTGTAGTTGCAAACTGCTAATATAGTATCACTTTCACACACTAGCTATGTTTCCATCCAAAAATGTGAAGTAGATTTATGTGCATCACTGAAATATTAAATAAAACATTTGTGAATAAAGCAGCACTTCCATTCTAAGGCAAAAACAACAATCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26419
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000023101 | Splice Site, Nonsense | 453 | 583 | 12 | 15 |
The following transcripts of ENSDARG00000018902 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 14059968)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 12357405 |
GRCz11 | 5 | 12857622 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCGCCAGAGAAACTCAAGCTCATGGCCCTGCAGAGAGGAGAGAAACCA[C/T]GTGAGGGTTTTACTTACTGCTGTGTAGAGATGCACTGATTTTCTTTGCTA
Long Flanking Sequence:
TTTATGCTTGAGTTTTATTTGTATAGCGCTTTTCTGTAATTATAATTTCAAAGCTTTGCAAAAGGTACATATTTTTGCATTACAATCAAATTTGTAAAGGTTAAGATTATTAGTTACCATAAAGTTATTTGTTACTAATAACATTAATTAACTAGTAACCAACAGTTTTTAACAGTTAAAGTTAGTATATATAAACAGTTAACCTGTAGTTCTAAAGTTAATAGATTATGTCTTTGTGTATGTGTTCAATGAAGTGTTTTATGTTTGTGTATTAAGTGTATATTCTTGTGCTTTATGAATTTTTTCAATGGTGCAGATACTACATTCAGCCCCAGTGGGTGTATGACTCTGTCAATGCTAAGATACAGTTACCTGTGGAGGAGTATTTTCTGGGAGTCACACTGCCGCCTCATCTGTCACCGTTTGTGGAGGAGACTGAAGGAGATTATGTGCCGCCAGAGAAACTCAAGCTCATGGCCCTGCAGAGAGGAGAGAAACCA[C/T]GTGAGGGTTTTACTTACTGCTGTGTAGAGATGCACTGATTTTCTTTGCTAATTACTATTTTTTTTAATTTTTATTATTAATATTTTTTGGCAGGGCTGTGACCTGTCTATATGTACGTATGGTCATTTTACAGCTCCGTTGGGTTAAGTTTTACCATTTTTGAATCCATCAAGTCTATCTCCGGGTCTGGCGGGAGTACTTTTAGCTTAGCATAAATCATTGAATTGGATTAGACCATTAGCATCTGACTATTAAAAGTAAAATTAATTCCTTTTCAGATTTTTTTGTGATGATTGTAGTTGCAAACTGCTAATATAGTATCACTTTCACACACTAGCTATGTTTCCATCCAAAAATGTGAAGTAGATTTATGTGCATCACTGAAATATTAAATAAAACATTTGTGAATAAAGCAGCACTTCCATTCTAAGGCAAAAACAACAATCACTTCCTGATACCTGCCGCTAAAGTAATGTTATAATACTGAACCACCTTGACGA
Associated Phenotype:
Not determined