ZMP
pole
Ensembl ID:
ZFIN ID:
Description:
DNA polymerase epsilon catalytic subunit A [Source:RefSeq peptide;Acc:NP_001121995]
Human Orthologue:
POLE
Human Description:
polymerase (DNA directed), epsilon [Source:HGNC Symbol;Acc:9177]
Mouse Orthologue:
Pole
Mouse Description:
polymerase (DNA directed), epsilon Gene [Source:MGI Symbol;Acc:MGI:1196391]
Alleles
There are 7 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31416 | Nonsense | Available for shipment | Available now |
| sa10893 | Nonsense | Available for shipment | Available now |
| sa6963 | Essential Splice Site | Confirmed mutation in F2 line | Not yet available |
| sa26416 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa44601 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa31416
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000081411 | Nonsense | 227 | 2284 | 7 | 49 |
Genomic Location (Zv9):
Chromosome 5 (position 13955277)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 12252714 |
| GRCz11 | 5 | 12752931 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCGAGCAGCTAGACAACATCCTAGACATGCGGGAATATGATGTGCCCTA[T/A]CACGTCCGCGTTTCTATTGACTTAAAGATTCACGTGGTAGGGAGACTGCT
Long Flanking Sequence:
CAACGCGCAATGTACTTTGGGCAATATTGGTGGTTAGAGTATGGATGGTTTTGCACTTAAAATTTTTACCGGAAATAGTTAACCATCCGGACACCTTTGGCATACTCTTTTCAACATACTATGATTTGTGACATACTAATTCTATTTTCAAATACTATTTAGGACGGATTGTCTGCAAATTGGCATGCAGCATTTGTTTGTTGTGAATATACGCCCTCTAGTGGTGAAAATTACACACTGTGCCTTTAAAACCTTTATGTTGAAACAATGCAAAAGAAAAAAAGGATCTAAACCATTAAAATAATGGTAAAATAATAATTAATAACTCTTCTTGCTGTTGACACTGTTCATTTTTGCTGCAAATAAAATGAAGCATCATTTCTGTGTTCCAGCGCTTTGGTTGGTGGGAGTGTAGTGACGGAGGATGAGGGTGGATCGTCAAAAAAGATGACCGAGCAGCTAGACAACATCCTAGACATGCGGGAATATGATGTGCCCTA[T/A]CACGTCCGCGTTTCTATTGACTTAAAGATTCACGTGGTAGGGAGACTGCTTGAATGATATTGTGTTTAATATTGATTTGAGACCTCGATTGACTGCTCTGATTTCTGACAGGCTCACTGGTATAATGTGCGGTATAGAGGAAGTGCTTATCCTCCTGAGATTGTGCGCAGGGACGACCTTGTGGAAAGACCTGTAAGAATCCTTTCAAGAAGCTCTTGCATGTTTTACTTGCTTGTGATTTTGTTTAGACAATCTCTGTTGTTTAAAGGGATAATTCACCTCTTCCAAAATTGTATTTCCTCATCAGTTACTCAAAGTGGTTCAAAACTTTTATTAACTTCTTTCTTTTGTTGATCACAAATCATGGTAGTCTGAAGAACTGAAGTCAGTGGCTGTTTTTCCCCCAGCATTTTTTGTGTGATCAAATTTGTATTAAACAGGTGGAAATAATGTCACATCCATTGTTATAAACGAGAATAGCAACCAACTTCAATTTCTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10893
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000081411 | Nonsense | 255 | 2284 | 8 | 49 |
Genomic Location (Zv9):
Chromosome 5 (position 13955434)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 12252871 |
| GRCz11 | 5 | 12753088 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACAGGCTCACTGGTATAATGTGCGGTATAGAGGAAGTGCTTATCCTCCT[G/T]AGATTGTGCGCAGGGACGACCTTGTGGAAAGACCTGTAAGAATCCTTTCA
Long Flanking Sequence:
TTTAGGACGGATTGTCTGCAAATTGGCATGCAGCATTTGTTTGTTGTGAATATACGCCCTCTAGTGGTGAAAATTACACACTGTGCCTTTAAAACCTTTATGTTGAAACAATGCAAAAGAAAAAAAGGATCTAAACCATTAAAATAATGGTAAAATAATAATTAATAACTCTTCTTGCTGTTGACACTGTTCATTTTTGCTGCAAATAAAATGAAGCATCATTTCTGTGTTCCAGCGCTTTGGTTGGTGGGAGTGTAGTGACGGAGGATGAGGGTGGATCGTCAAAAAAGATGACCGAGCAGCTAGACAACATCCTAGACATGCGGGAATATGATGTGCCCTATCACGTCCGCGTTTCTATTGACTTAAAGATTCACGTGGTAGGGAGACTGCTTGAATGATATTGTGTTTAATATTGATTTGAGACCTCGATTGACTGCTCTGATTTCTGACAGGCTCACTGGTATAATGTGCGGTATAGAGGAAGTGCTTATCCTCCT[G/T]AGATTGTGCGCAGGGACGACCTTGTGGAAAGACCTGTAAGAATCCTTTCAAGAAGCTCTTGCATGTTTTACTTGCTTGTGATTTTGTTTAGACAATCTCTGTTGTTTAAAGGGATAATTCACCTCTTCCAAAATTGTATTTCCTCATCAGTTACTCAAAGTGGTTCAAAACTTTTATTAACTTCTTTCTTTTGTTGATCACAAATCATGGTAGTCTGAAGAACTGAAGTCAGTGGCTGTTTTTCCCCCAGCATTTTTTGTGTGATCAAATTTGTATTAAACAGGTGGAAATAATGTCACATCCATTGTTATAAACGAGAATAGCAACCAACTTCAATTTCTTTTATTTCCCACCCACCCCTGGCGAAAAATGGTAAAAATTAAGTAAACAAATAAAAAAATGAATTTAAGCTTAAAACAATTCACCCAACAGAAGACAGAACAAAGAAACTCAAACAGGTCGGGAACTAGGATAAGGAAATTATGGCAGGATTTTCAATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6963
Status:
Confirmed mutation in F2 line
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 |
|---|---|---|---|---|---|
| ENSDART00000081411 | Essential Splice Site | 302 | 2284 | 9 | 49 |
Genomic Location (Zv9):
Chromosome 5 (position 13956155)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 12253592 |
| GRCz11 | 5 | 12753809 |
KASP Assay ID:
554-4706.1 (used for ordering genotyping assays)
KASP Sequence:
TGCTGAAACAGACCAGATCATGATGATATCATACATGATAGATGGACAGG[T/C]AACACCATTTGAYGAWAGACTAGTCAGAGTWTATAAAGATTTTATTGGCA
Long Flanking Sequence:
AACTGAAGTCAGTGGCTGTTTTTCCCCCAGCATTTTTTGTGTGATCAAATTTGTATTAAACAGGTGGAAATAATGTCACATCCATTGTTATAAACGAGAATAGCAACCAACTTCAATTTCTTTTATTTCCCACCCACCCCTGGCGAAAAATGGTAAAAATTAAGTAAACAAATAAAAAAATGAATTTAAGCTTAAAACAATTCACCCAACAGAAGACAGAACAAAGAAACTCAAACAGGTCGGGAACTAGGATAAGGAAATTATGGCAGGATTTTCAATTTTGGAGGAACTATCCCTTGAAGATTGTGTGTCGATAATATTATTCCACTTTTTTAAGTGTGGGTCCTGCTTTTGTCATTAAATCAGTGCTGTATTTTTGTGTCTCTCTAAGGATCCTGTTGTGTTGGCTTTTGATATTGAGACCACTAAACTTCCTCTGAAGTTTCCTGATGCTGAAACAGACCAGATCATGATGATATCATACATGATAGATGGACAGG[T/C]AACACCATTTGATGATAGACTAGTCAGAGTATATAAAGATTTTATTGGCAGTTTTATTCATGTCATATTTAACCCTTTTACGCATATGACCACACTTGAGTGATCAGTCCAGGCTGGTACTTGAAGCATATGATCACACTGGTGTGATTTTGACGTTCAGAATGCACGTCATCAACTGCTCATTTATTTATAAAGCACATTTTTTAAAACAGCCACAAGAATAACCAAAGGTCTGTACATGAGACAGAGTAATATTTAATTAAAATTTGGAGAAACTTATGAAAACAGAAATAGGACAAAAGAAACAACAGATATATAATCAGAAACAATGCAATCAACAGTTCAATCTAATACTTAAATCTGACATCATAATTATCATCATTTATCAGTGTTTTAAAACAAATAACATTTATTTTAGGTTTCAGACATTCAATTACACATGACTACTAGCAAAACACAACATTTATGCTTTGTTAAATACATGCTGTTGTCTATGAGGA
Associated Phenotype:
This allele has been associated with this phenotype by genetic linkage analysis and may not be causal.
See FAQs for more info.
See FAQs for more info.
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Hatching:Long-pec ZFS:0000033 |
brain ZFA:0000008 |
necrotic PATO:0000647 |
abnormal PATO:0000460 |
| Hatching:Long-pec ZFS:0000033 |
eye ZFA:0000107 |
malformed PATO:0000646 |
abnormal PATO:0000460 |
| Hatching:Long-pec ZFS:0000033 |
head ZFA:0001114 |
decreased size PATO:0000587 |
abnormal PATO:0000460 |
| Hatching:Long-pec ZFS:0000033 |
pericardium ZFA:0000054 |
edematous PATO:0001450 |
abnormal PATO:0000460 |
| Hatching:Long-pec ZFS:0000033 |
trunk ZFA:0001115 |
curved dorsal PATO:0001468 |
abnormal PATO:0000460 |
Mutation Details
Allele Name:
sa26416
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 |
|---|---|---|---|---|---|
| ENSDART00000081411 | Essential Splice Site | 368 | 2284 | 11 | 49 |
Genomic Location (Zv9):
Chromosome 5 (position 13957725)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 12255162 |
| GRCz11 | 5 | 12755379 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGACCAAGCCAAATATTTTTGTCACCTACAACGGGGATTTCTTTGACTGG[T/C]AGGGTAGGATTTTAAATAAACTACATGCATAAAAACTGTGACTTATGTTT
Long Flanking Sequence:
GTTTACAGAAAATGGAAAAAAATAAGCAAAATATGATGTATACATAAGTCATTGGGACTGTTGCATGTAGTGATAAACTAGACGTGTTGTCATGTGAAATTTAAAACAATGCATTCAAAATAACGGTCACAATAAAAAACAACTCGTGGAGGAGGGTCAGCTGGAGTATTTGCATGAAGGAATTAATGTTTAATACATGACACTGACTTTTATGTACTACTTTTTTAGGGTTTCCTCATCACAAACAGAGAAATTGTGTCTGAGGACATTGAAGACTTTGAGTTCACCCCAAAACCTGAATATGAGGGCCCTTTCACTATATTTAATGAGCCTGATGAGGTAAGATTAAACAGTAAATATGTGAACAACTGGTAAAATGTTTTCACTTTAAAAAAAATTGTGCTTGCTTTCAGGCCTCTCTCATTCAGAGATGGTTTGAGCACGTCCATGAGACCAAGCCAAATATTTTTGTCACCTACAACGGGGATTTCTTTGACTGG[T/C]AGGGTAGGATTTTAAATAAACTACATGCATAAAAACTGTGACTTATGTTTTATGATGGATTTGTGCCTGTGTGTCCTTAGGCCATTTGTAGAAGCCAGAGCTGCCCAGTTAGGTCTGAGTATGCATCGGGAGATCGGCTTCCAGAAGGACAATCAGGGAGAATATAAAGCCAGCCAGGCTATTCACATGGACTGCCTCAGGTGGCTGACATGTTTTTTATAGCTGGTTTTGGTTCGGTTTGGTTTGTATGGCATTATAGTTGTAGTCCATATATATCATAATATCCTCTTGCTTTGTTCAGGTGGGTAAAGAGAGACAGTTACCTGCCTGTAGGAAGTCATAACCTCAAGGCTGCAGCAAAAGCTAAATTAGGCTATGACCCTGTAGAGCTGGACCCAGAGGAGATGTGCCGCATGGCCACTGAAGAACCACAGGTCTAATTTTCATCTTTCATTCTTGGCGATCACTTGTGCTGATGAGTGTTTGCTTAAATATTTAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44601
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000081411 | Nonsense | 947 | 2284 | 24 | 49 |
Genomic Location (Zv9):
Chromosome 5 (position 13969645)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 12267082 |
| GRCz11 | 5 | 12767299 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGAAGTTGATGGCCCGTACTTGGCTATGATCCTGCCTGCCTCCAAAGAA[G/T]AGGGAAAGAAACTAAAGAAAAGGTGAGCAAACCTTCAGATCATTACTAAA
Long Flanking Sequence:
GCTGAGGAATATACACAAGATAGATGTAAGCATTACTGAATTGTAGCTCTGACAGGGACATGACTGTTTTAAATGCCTGCGAGTGCAGTATATAAATCGCAAGCGCCCACAATTCACAGTTTGTGATCATGTGATCTGTTTCATTATGTTGATATGTAATCCAAATATTCGAGCTTGAAAGAGATGGAAATGTAATTCAATTGTGCTGAATTTCTATAGAGATCACAGTGTAGTTGCTGTTGTGGCCCATTTTTTGTGACTGAAAATGATCAATAAGCAGGTTGATTGTATATTGAAACGGAAGAGATGATTTACAAATGATAACCCCAAAATATATATATTTTTTTATCCTTTTGTCACTGTAGGAGGGCTTCACAAATCATCAGTATCAAGAGTTGGTGGACGCCGCATCTCTTACCTATGAGACCAGAGCTGAGAACAGTATCTTCTTTGAAGTTGATGGCCCGTACTTGGCTATGATCCTGCCTGCCTCCAAAGAA[G/T]AGGGAAAGAAACTAAAGAAAAGGTGAGCAAACCTTCAGATCATTACTAAAATGTTTTAAAATCTCTTAAGAACTAGATTTTCTTTCTCTAGAAGATTTCTCATTGCAACTCGTTTAGGATGAAATCTTAACCCTAAAAACAAATGTAGTGATATACTGAAATTTTGGCAGCTCAAAATATTATACCAAGAATAGATTTTGAATAAAGTCGACTGAAATTACGTTTAATTAGCACTTCTTGATAGCATATTTGGATAAGACACAGCAGGGATGGACTTAATTAATACATCACAATGTTTTCTGGTATTTGTTGCAAGAAGGATAATAATGATGATATAATTCATGAGTATACACTGAGAGACAAAAACAGCCTCTATCTTTAAAGAAACGTATTATCATATGATCAAAGTATTATCAAGGATCATAAAAAAATACATAAGCAGATGTGCTAAAGCACATTAAAAATGACCTTTGTAGGGCTGTGGGTGTCCAGGAGCAGAG
Associated Phenotype:
Not determined