Busch Lab

ZMP

LOC100333282

Ensembl ID:
ENSDARG00000077057
Human Orthologue:
ESCO1
Human Description:
establishment of cohesion 1 homolog 1 (S. cerevisiae) [Source:HGNC Symbol;Acc:24645]
Mouse Orthologue:
Esco1
Mouse Description:
establishment of cohesion 1 homolog 1 (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:1925055]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa9513 Nonsense Available for shipment Available now
sa37943 Nonsense Mutation detected in F1 DNA Not yet available
sa30128 Nonsense Mutation detected in F1 DNA Not yet available
sa39461 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9513
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111891 Nonsense 143 931 1 9
Genomic Location (Zv9):
Chromosome 24 (position 37691825)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 36306741
GRCz11 24 36194813
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCAAAACAGTAGCAGCCATGTTCCCTGTGCAAATAGAGCACAATTACGGA[C/T]GATTGTTTGACATGCAGGCTGAAGAGATYACGCTACCTAAACCTGACAAA
Long Flanking Sequence:
TGTGATTGTGTATTATTTTTAACTGTTTTATTGTCATAGATGTACATTACATGTCTTGTCTCTTTATCTTCAGGATGCCTGGGCAGAAAAGAAAGATGTCTTCTTCTGAACCTGAAGTTAAAAAAACAAAGCTGGACCGAAATCTTGTGGAGTCTGATAAATCTCAAAAGCCTAAAAGAGGAAGACCACCAAAAAGTAAAGTGCTGGAAGCACAGCCATCAAGACAGAAACATCAGATAGATTCAAGGGAAGAAAATGGAAAGCCTATTCGACGGTCCTCTCGCTTGAAAACACCACTAAAAAAAGGTGCTAGAGCAAGACGGCGGAAAGATGGGGAGAAGCCTAAAGTCTCTGAGGAGAAGTCCTCTCAAAAAATGCCTGTCCTGAAAAAAGGAAACAAGAAGTATGTTTCAAGAGTAAAGAGAGAAAAGCCCATCATCTCTGAAACCATCAAAACAGTAGCAGCCATGTTCCCTGTGCAAATAGAGCACAATTACGGA[C/T]GATTGTTTGACATGCAGGCTGAAGAGATCACGCTACCTAAACCTGACAAAATCCATGTGGCTAATAAAAGTGAAATGCAGGCGCTTCACGAAACACAAGCAAGCAAAGCTGAAGAGCAAAAAGAGCTGCACGCTGAGCCTGTTGAGAAAATTACCGTCAGCGTAGATGCAAAAGTAGACGTGATGAGCAAATCTCCTCCACCTCTAGAGGCTCTTTTCAAAGTCATCCAAGAGTCCAGCCTCACTAAACACTCATTCTCTGGCAAAGACATTTCTGATATGGATGAGTTGGAAGTAGTGAACACATGTTCACTGCAGGACAGTGTGCAAAGCACAGACGTGGCCAAAGTGTTTCTTCAAGACTCGGATGCATTTCTGGATGATGATGTAGAGATTGAAAACTGTGTTGTGGAGATTGAAACCTACGAGGATTTGGATGGCGATCAAGGGGAGGTGTCGAAAAAGCAAACAAGCGAATGTGTGACCTGTAAAGAGGTCAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37943
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111891 Nonsense 144 931 1 9
Genomic Location (Zv9):
Chromosome 24 (position 37691821)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 36306737
GRCz11 24 36194809
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACAGTAGCAGCCATGTTCCCTGTGCAAATAGAGCACAATTACGGACGAT[T/A]GTTTGACATGCAGGCTGAAGAGATCACGCTACCTAAACCTGACAAAATCC
Long Flanking Sequence:
ATTGTGTATTATTTTTAACTGTTTTATTGTCATAGATGTACATTACATGTCTTGTCTCTTTATCTTCAGGATGCCTGGGCAGAAAAGAAAGATGTCTTCTTCTGAACCTGAAGTTAAAAAAACAAAGCTGGACCGAAATCTTGTGGAGTCTGATAAATCTCAAAAGCCTAAAAGAGGAAGACCACCAAAAAGTAAAGTGCTGGAAGCACAGCCATCAAGACAGAAACATCAGATAGATTCAAGGGAAGAAAATGGAAAGCCTATTCGACGGTCCTCTCGCTTGAAAACACCACTAAAAAAAGGTGCTAGAGCAAGACGGCGGAAAGATGGGGAGAAGCCTAAAGTCTCTGAGGAGAAGTCCTCTCAAAAAATGCCTGTCCTGAAAAAAGGAAACAAGAAGTATGTTTCAAGAGTAAAGAGAGAAAAGCCCATCATCTCTGAAACCATCAAAACAGTAGCAGCCATGTTCCCTGTGCAAATAGAGCACAATTACGGACGAT[T/A]GTTTGACATGCAGGCTGAAGAGATCACGCTACCTAAACCTGACAAAATCCATGTGGCTAATAAAAGTGAAATGCAGGCGCTTCACGAAACACAAGCAAGCAAAGCTGAAGAGCAAAAAGAGCTGCACGCTGAGCCTGTTGAGAAAATTACCGTCAGCGTAGATGCAAAAGTAGACGTGATGAGCAAATCTCCTCCACCTCTAGAGGCTCTTTTCAAAGTCATCCAAGAGTCCAGCCTCACTAAACACTCATTCTCTGGCAAAGACATTTCTGATATGGATGAGTTGGAAGTAGTGAACACATGTTCACTGCAGGACAGTGTGCAAAGCACAGACGTGGCCAAAGTGTTTCTTCAAGACTCGGATGCATTTCTGGATGATGATGTAGAGATTGAAAACTGTGTTGTGGAGATTGAAACCTACGAGGATTTGGATGGCGATCAAGGGGAGGTGTCGAAAAAGCAAACAAGCGAATGTGTGACCTGTAAAGAGGTCAATTCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30128
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111891 Nonsense 647 931 2 9
Genomic Location (Zv9):
Chromosome 24 (position 37684921)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 36299837
GRCz11 24 36187909
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCATCATCAGCTAAAGTGCAGCCCAATCCAGCAGTGGAGAGAAAGCTGTG[T/A]GTTCCCACTACCGCAGGTAAAGATTGTGCTGACTTGTTTGTTTGGAAACA
Long Flanking Sequence:
GATGCAAAATTTTCTGTGGGCAAAAAACTTGGTGCATCTATAATTTGAACACACTTTTAGCATTGTTGCACATTTCTTTTTTTTTTTATAAGATTTATTTATTACCTTTTTATGACAGTTACCAAACAAAAGTAAAAAGAGACAATAACAGTACAAAATTGTTGCACATTTCTGTTGTGTGTTTGGCTCTTAGATCATTATAGAGTAAAAAAGTCAAGAGCTAGTCATTGTTATTGACATACATTTTATTGTGATTTGATATAATATAGTTTTATCGGGCCAGCCCTACCTGCAGCAGATCATCATGATCATTACAGGTTTAAATGCATTTAATTTGCATCGCATTGAAGCACCTGAACAGGTTGTAGATGCACCATGTTGTGGTAAAGTAACCACTTGTGACTAATTGTGTAAAACGTGTTATTATCACAGGGTAAAGCAGAACAGTCCCCATCATCAGCTAAAGTGCAGCCCAATCCAGCAGTGGAGAGAAAGCTGTG[T/A]GTTCCCACTACCGCAGGTAAAGATTGTGCTGACTTGTTTGTTTGGAAACACTTTAATTTAAGGTGACGTAATTACATTCCAAGCACTTACTATAGTAATTACAATGAATCATGTAACTTATCCTAAATCTAATCCCAACTCTATAGTAATCACATTTAATGAGTTTATTAATATTTCTCAGTAGTTAAATGTATAGTTACACTGTAACTACATAAGCTTAAAATATTAAGTGAAAGTAAAATAAATAATAAGCGTAACTTCCTTTTTGAGTAGAGCACAAAATTTCATTATGTGTACTACTACAGAATGTGTTTTATTATTTGTAAACATTTTATTAGTATTGTTTTATTGTTAGTTTAATTCTTTGTGATGCATGTGTTCACAGATAGTAAGTCGAAATCCTCTCCTCAGCAAGAAACTGCCCAACAAACACAACTGGAAAACAGCAACAGGTAATTGAAAAGGTTTAAATGAAATATTTCTTATATTATTTTAATAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39461
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111891 Nonsense 656 931 3 9
Genomic Location (Zv9):
Chromosome 24 (position 37684526)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 36299442
GRCz11 24 36187514
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTATTGTTAGTTTAATTCTTTGTGATGCATGTGTTCACAGATAGTAAGT[C/A]GAAATCCTCTCCTCAGCAAGAAACTGCCCAACAAACACAACTGGAAAACA
Long Flanking Sequence:
CTTGTGACTAATTGTGTAAAACGTGTTATTATCACAGGGTAAAGCAGAACAGTCCCCATCATCAGCTAAAGTGCAGCCCAATCCAGCAGTGGAGAGAAAGCTGTGTGTTCCCACTACCGCAGGTAAAGATTGTGCTGACTTGTTTGTTTGGAAACACTTTAATTTAAGGTGACGTAATTACATTCCAAGCACTTACTATAGTAATTACAATGAATCATGTAACTTATCCTAAATCTAATCCCAACTCTATAGTAATCACATTTAATGAGTTTATTAATATTTCTCAGTAGTTAAATGTATAGTTACACTGTAACTACATAAGCTTAAAATATTAAGTGAAAGTAAAATAAATAATAAGCGTAACTTCCTTTTTGAGTAGAGCACAAAATTTCATTATGTGTACTACTACAGAATGTGTTTTATTATTTGTAAACATTTTATTAGTATTGTTTTATTGTTAGTTTAATTCTTTGTGATGCATGTGTTCACAGATAGTAAGT[C/A]GAAATCCTCTCCTCAGCAAGAAACTGCCCAACAAACACAACTGGAAAACAGCAACAGGTAATTGAAAAGGTTTAAATGAAATATTTCTTATATTATTTTAATAGTAATAGTTTAGCTCCAACTTGCCTCAACACACCTACCAGGAAGTTTCTAGTATACCTAGATGAGCTTGGTTAACTGATTCAGGTGTGTTTAATTGGGATTGAAGCTAAAATCTGCTGGACACCGTCCTTCCAGGATCAAATTTGGGCATCCAATAGCCAATATTTTAATTGTATTTAATTTGGAAATGATTATACATTTTTGAAAGTTTTTTTTTTTCCAGCAGCCCAAAATGTTGTGCAATTATCTTAGCAATCAAATGAATATCAATAGAAGCATGTCTGTTAACATTCTTTCTATTATTCTACAAAAACTGAAGTCCAGAATGTCAGATCTGTTAAACATCTGTGGTGTTTTGTTGTCATCTCATGTGAAGTTCTAGTGTTGAACCAGAACAG
Associated Phenotype:
Not determined