Busch Lab

ZMP

esco2

Ensembl ID:
ENSDARG00000014685
ZFIN ID:
ZDB-GENE-050913-156
Description:
N-acetyltransferase ESCO2 [Source:UniProtKB/Swiss-Prot;Acc:Q5SPR8]
Human Orthologue:
ESCO2
Human Description:
establishment of cohesion 1 homolog 2 (S. cerevisiae) [Source:HGNC Symbol;Acc:27230]
Mouse Orthologue:
Esco2
Mouse Description:
establishment of cohesion 1 homolog 2 (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:1919238]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa16629 Essential Splice Site Available for shipment Available now
sa14007 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa16629
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000009164 Essential Splice Site 426 609 7 11
ENSDART00000009164 Essential Splice Site 426 609 7 11
Genomic Location (Zv9):
Chromosome 20 (position 39374541)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 39446953
GRCz11 20 39349832
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCAACACACACAGTTCCATCAGCGCTTTCTGGACACMATTAAGTTTGTGG[T/A]KAGCCATCATGATGTTTATTAATATTACAACAGATCGTATATTGGATASA
Long Flanking Sequence:
GAAATTTGATTCATATCGCAATGTATAATGCAGCAAAACAAAATATCGCAATGTGAGATTTTTCCAATATTGTGCAGCCCTAGCATCTTATCTATCCATCTAATCTATCTCTTAATTTCTCTGTTTTAGACCTCAGAAAAAGGGGAAGTTGTCTCCACCGCTGAACAGCAGCACTCCTTCAGCTCTGACCGCAACTCCTGCTCTTAAAGCCAAAGAGAGGAGCATGCTGAGGAGAGAGATGAAGAAGCAAACCGACAACCAGCTCATCATCGTGAGTAGATCAACCTATTAGAAATAAGAAAATAAATAAAAAAATCAATCTGTGGTTTTTGACCTGTTGTTTATGGTTGGCATGTCTGCTCTTTAGGATGCTGGTCAGAAGCAGTTTGGAGCCACTACCTGTGCATCCTGTGGGATGCTGTACAGCACAGACAGTCCAGAGGACAACTTTCAACACACACAGTTCCATCAGCGCTTTCTGGACACCATTAAGTTTGTGG[T/A]GAGCCATCATGATGTTTATTAATATTACAACAGATCGTATATTGGATACACATATGGACGTGTACTCGGAAAAAAGAAACCCCAAAATGCCAGTAATGAAACAGAAACCAGATTGTGAGGCATTTTCTTATTGATTGCCCTATTTTTAATGTTATCAGACAATGATTTTTAGCTGGAGAGACTTTAAACGAAATATTTTTTTAACATGAATCTTTCCAAATTTGTACAATTTAGCCCTTTAGCCCTTAAACTGTTTTAGATTTTTATCTTGTATATTATTATTATTTATAAATCTTATGTATTTATTGCTGTTGATGACTTGTTATTGTTAATGTTTAGAATTATAGAAGTGATATCTATACAATAATGAACATTATCAGTTTTTTTTTGACATAGGGAAGCTGATGTGGCTTATAATGACTCCACTCTCTCTCTCTACAGCTGAACAGTTTTTCTGCAGAACATTTTTTCAACATCAGTTTGTTTGTTTTTAGGGCTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14007
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000009164 Essential Splice Site 426 609 7 11
ENSDART00000009164 Essential Splice Site 426 609 7 11
Genomic Location (Zv9):
Chromosome 20 (position 39374541)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 39446953
GRCz11 20 39349832
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCAACACACACAGTTCCATCAGCGCTTTCTGGACACMATTAAGTTTGTGG[T/A]KAGCCATCATGATGTTTATTARTATTACAACAGATCGTATATTGGATACA
Long Flanking Sequence:
GAAATTTGATTCATATCGCAATGTATAATGCAGCAAAACAAAATATCGCAATGTGAGATTTTTCCAATATTGTGCAGCCCTAGCATCTTATCTATCCATCTAATCTATCTCTTAATTTCTCTGTTTTAGACCTCAGAAAAAGGGGAAGTTGTCTCCACCGCTGAACAGCAGCACTCCTTCAGCTCTGACCGCAACTCCTGCTCTTAAAGCCAAAGAGAGGAGCATGCTGAGGAGAGAGATGAAGAAGCAAACCGACAACCAGCTCATCATCGTGAGTAGATCAACCTATTAGAAATAAGAAAATAAATAAAAAAATCAATCTGTGGTTTTTGACCTGTTGTTTATGGTTGGCATGTCTGCTCTTTAGGATGCTGGTCAGAAGCAGTTTGGAGCCACTACCTGTGCATCCTGTGGGATGCTGTACAGCACAGACAGTCCAGAGGACAACTTTCAACACACACAGTTCCATCAGCGCTTTCTGGACACCATTAAGTTTGTGG[T/A]GAGCCATCATGATGTTTATTAATATTACAACAGATCGTATATTGGATACACATATGGACGTGTACTCGGAAAAAAGAAACCCCAAAATGCCAGTAATGAAACAGAAACCAGATTGTGAGGCATTTTCTTATTGATTGCCCTATTTTTAATGTTATCAGACAATGATTTTTAGCTGGAGAGACTTTAAACGAAATATTTTTTTAACATGAATCTTTCCAAATTTGTACAATTTAGCCCTTTAGCCCTTAAACTGTTTTAGATTTTTATCTTGTATATTATTATTATTTATAAATCTTATGTATTTATTGCTGTTGATGACTTGTTATTGTTAATGTTTAGAATTATAGAAGTGATATCTATACAATAATGAACATTATCAGTTTTTTTTTGACATAGGGAAGCTGATGTGGCTTATAATGACTCCACTCTCTCTCTCTACAGCTGAACAGTTTTTCTGCAGAACATTTTTTCAACATCAGTTTGTTTGTTTTTAGGGCTGG
Associated Phenotype:
Not determined