Busch Lab

ZMP

pole

Ensembl ID:
ENSDARG00000058533
ZFIN ID:
ZDB-GENE-070705-557
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.
Availability:
Order Allele From ZIRC
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
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.
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.
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.
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