Busch Lab

ZMP

LOC100330508

Ensembl ID:
ENSDARG00000078964
Human Orthologue:
ESYT2
Human Description:
extended synaptotagmin-like protein 2 [Source:HGNC Symbol;Acc:22211]
Mouse Orthologue:
Esyt2
Mouse Description:
extended synaptotagmin-like protein 2 Gene [Source:MGI Symbol;Acc:MGI:1261845]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa599 Essential Splice Site F2 line generated Not yet available
sa45287 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa11660 Nonsense Available for shipment Available now
sa31586 Splice Site, Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa599
Status:
F2 line generated
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
ENSDART00000110789 Essential Splice Site 130 860 2 23
Genomic Location (Zv9):
Chromosome 7 (position 41549643)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 39885900
GRCz11 7 40156917
KASP Assay ID:
554-0509.1 (used for ordering genotyping assays)
KASP Sequence:
CTCACCAGGTTCATTATCCAGATGTGGAGAGAGTTGAGTGGCTTAATAAG[G/A]TGAGCGAATCATAAATTAACATTTGCTTGTCCGTCATCATCTCTAAGTAG
Long Flanking Sequence:
TTCATACTCATCTATAGCGGAAATACAAATTATCCCAACATCAGATTATTCCAATATCCTACAGCCATAATTTGGTGGAATAATTGTGAGCTCAGAATTAATACTAAAGCTTAATGCCTAAAAAGTGCTAGGTTAGTGTGTCATCTGCACCCCTCCCACTGCACGAAACAAATGCAGGCTAAGCATTTTACTTGCGCTGGGATTCAACTGCAGCTACACTCAACGCTGATGCCACTGCTGTACATGTAGACATGATGACACCACTGAAGTGAAAGAAAAGGAGAGAATAAACCTTACACTTGAATACATAACCTGTGTTTATTTTTTATGACCTCTGTGTACTAAGGGCGTGTGTGTGTGTGTGTGTTTGCCTGAGGGAATTCCTCAGACACACTGCAGTATATTTACAGAAGCTCTCTTTCCTTTTAATATGATGAATTTGTCTGCTTTCTCACCAGGTTCATTATCCAGATGTGGAGAGAGTTGAGTGGCTTAATAAG[G/A]TGAGCGAATCATAAATTAACATTTGCTTGTCCGTCATCATCTCTAAGTAGAGTTCATCCACCATTCTCCAATACATGTGTCTGCAGTTACTAATCTGGAATATGATACTCTCTCTCTTTCTCTCTGGGGTATTATTGGTTGTGCACCGCTGATATAATCCACTGCACTTGCTCATGTTACGCTACATATAACCACCATTTTTCACCCTCTGTGTCAAAAATGAAAACCCTCAGGGTGGAAAAATGCAGCTGTGTAATCAGCTGCTTTCACTTTTAAATATTCATTGTACTTATACATCCAGTGGCTCCCAGTCTTCATGTAAGTTTCCTGATTTGAATATTTCATTGGCATTTTGCCCAGTGGTGAAATGTATGTACCTGAATGGCCTCATGCTTCTGCAAAATAAGTCTGCAACATTCAAAACCATGCAAAACTATTTACATGAAACACTGCAGAGTCTCTGATGTTTTAAACTCAACAAGGGAGAGTTAAAAACTCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45287
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110789 Essential Splice Site 274 860 8 23
Genomic Location (Zv9):
Chromosome 7 (position 41575850)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 39912107
GRCz11 7 40183124
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATAAAGGAGAAAATCACTAATGATGCATTACCATTATTTCTTTTCCATTG[G/A]CAGTGGCTTTTCAGATCAAATGATCCAAGATATTATCAGCGCTTACATGG
Long Flanking Sequence:
TGCAGGTATGTTGGAGGAAGTTGGAGTTAAACTATGCAGGATACCGGCCCTTTAGCACTGAGTTTGGACAGCCCTGATCTATACAAAAACTATATTAACATTATACCAGACACTGCAAAAAGCTCATTCCCAGCCCCTAGACTTTTCTGACTGGGTATTCGAGTGCCGTCGAGTGACTGGAAATTTTTGTACCCTATGGTTTCGAGTGTGGTTCTGAAAAATCTCATTTTCAACGGCTATCTAACCCTTCCCCTTTGCCTTATGCCTTCAAGCTATAGATAATTGTGACAACCCCACCCCTTTACATGCACCTCTTTGCATGTGAACATGCAAAATGAGTAAGGGGCTAAGGGGTAGAATTGGGAATGGGCCTTAATTTACGGTTACTCTGCAATTACAGTACATGGCAGCAAGCAATCAGCAAAGTTAAATATTTAGTCAACAGAATATATAAAGGAGAAAATCACTAATGATGCATTACCATTATTTCTTTTCCATTG[G/A]CAGTGGCTTTTCAGATCAAATGATCCAAGATATTATCAGCGCTTACATGGTGTTGCCTAACAGGATCACAGTGCCGTTGATAGGTGAGGTTGAGCTGGCACAGCTTCGCTTCCCCATGCCAAAGGTGAACACCCAAACATAACACTACCATCTCATCACTCGTTATTAAGCAAACCATGCTCACTTACTGATGTTATTATTCAGCCATCTCTTCTGCTGTCTTCTTTTATGTTTGGATCTCTCATTAGGGAGTGCTGAGGATTTATTTTATTGAAGCTCAGAATCTGGAAGTAAAGGACACGTATCTTGGCGGACTAATCAAAGGCAAGTCTGACCCATATGGTATGCTGCTGGTCAGCAACCAACTTTTCAGAAGTAAGACAATCAAAGAGTGTCTGCACCCCAAGTGGAACGAGGTGTATGAGGTGAGTATGGAGAAACGCTATGCTTATACTGTAATACAAAGATCAAATATTACAAATCTGCATGCATGTGTTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11660
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110789 Nonsense 334 860 9 23
Genomic Location (Zv9):
Chromosome 7 (position 41576155)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 39912412
GRCz11 7 40183429
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGAGGATTTATTTTATTGAAGCTCAGAATCTRGAAGTRAAGGACACGTA[T/A]CTTGGCGGACTAATCAAAGGCAAGTCTGACCCATATGGYATGCTGCTGGT
Long Flanking Sequence:
ATGCACCTCTTTGCATGTGAACATGCAAAATGAGTAAGGGGCTAAGGGGTAGAATTGGGAATGGGCCTTAATTTACGGTTACTCTGCAATTACAGTACATGGCAGCAAGCAATCAGCAAAGTTAAATATTTAGTCAACAGAATATATAAAGGAGAAAATCACTAATGATGCATTACCATTATTTCTTTTCCATTGGCAGTGGCTTTTCAGATCAAATGATCCAAGATATTATCAGCGCTTACATGGTGTTGCCTAACAGGATCACAGTGCCGTTGATAGGTGAGGTTGAGCTGGCACAGCTTCGCTTCCCCATGCCAAAGGTGAACACCCAAACATAACACTACCATCTCATCACTCGTTATTAAGCAAACCATGCTCACTTACTGATGTTATTATTCAGCCATCTCTTCTGCTGTCTTCTTTTATGTTTGGATCTCTCATTAGGGAGTGCTGAGGATTTATTTTATTGAAGCTCAGAATCTGGAAGTAAAGGACACGTA[T/A]CTTGGCGGACTAATCAAAGGCAAGTCTGACCCATATGGTATGCTGCTGGTCAGCAACCAACTTTTCAGAAGTAAGACAATCAAAGAGTGTCTGCACCCCAAGTGGAACGAGGTGTATGAGGTGAGTATGGAGAAACGCTATGCTTATACTGTAATACAAAGATCAAATATTACAAATCTGCATGCATGTGTTTTATCAGGCACTAGTATATGAACCTTCAGGACAACATCTGGAAATTGAGCTCTTTGATGAAGACCCAGATAAAGATGATTTCTTGGGAAGGTGCCAAATTCATTTAAATATCTAAAATGTGCAATATTGTCTATCATTTATCTTTTTAAAAGTGTGAAATGTATTGTTAATTTTTGTTCCAGTCTAATGATTGACTTGACTGAGCTTCATAAAGAACAGAAGGTTGATGAGGTATTTAAATTCTCATTCTTGTTACATTCATTTGCAATGCATGTTCTTTAACAAATGTCACCACCAGTTTTATTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31586
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:
A > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110789 Splice Site, Nonsense 519 860 15 23
Genomic Location (Zv9):
Chromosome 7 (position 41581014)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 39917271
GRCz11 7 40188288
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCCAAATCCTTTTGTCAAACTGACTGTAGGACAGAAGACGTGCACAAGC[A/T]AGGTAGCATTGATTAATCAGCTTTAACATCTTAAAGTCCTGCAATGCACA
Long Flanking Sequence:
AAGAAGCATGACTTTCAAATAGCTGAGTTATGATTTATTATTTACAATAAACCAACCGGTCAGAATGTATTGCATATTTGTAATTGACTATTTAAAGGGATAGTTCTCCCCACAATTTGACTCTGTTAGTTGTCAGTTACTCACCTTTAACTTTTTTTTCTTCTAAAAAAAAAGATATTTTGAAGAATGCTGGTTGCTGAGACCAATTGACTTCCATAGGATTTTTGTTCCTACTATGGAAGTCAATGGGTGACAGTAACCAGCATTCTTCAAAACTTTTAAAGATTTAAAACCACATGAAAGAGAGTAAATAATGAGGTTATTATTTCTTTGTGTGAACTATCCCTTTGAGACTGTATCATGTTTTTTTGACTTTGTCATATCCCACCGCATACAATAATTGGGTTCTTTCTCTTTTTGTTCAACAGTCTGGTAAGAAAGTGAGCATAGATCCAAATCCTTTTGTCAAACTGACTGTAGGACAGAAGACGTGCACAAGC[A/T]AGGTAGCATTGATTAATCAGCTTTAACATCTTAAAGTCCTGCAATGCACATATACCCTGTCCTGTACTTTGCAGGTGAGGTATAAAACCAGTGAGCCACTGTGGGAAGAGACTTTCCCCTTCCTTATCAACAACCCCCAGACTCAGGAACTGGAAATTGAGGTATTCTATAAGGGATCGTCCTAAAAGCATGAATGTTTGTTAACAAATAGTCACTAAAATCATCTTAATTACTGAAATCTACTTCAATGTTTATTAATCAAAAGAAGACAGATTATTTAAAGACCAATAAAGCGTGTGTTAATTATGATTAAAAGCTCAGGATTAGTAAAAGTAAACTGACGTGTGATTTGTTTGTCTCAGGTGAAGGATAGTAAGCACAAGTGCTCTCTGGGTAGTCTACAAGTGTCTCTTGCATCTCTCCTGAATGAGGTGGACATGACTCTGAATCAGCAGTTTCCTCTGCAGAGCTCCGGCCCCAACAGCACCCTCAAACTCAAA
Associated Phenotype:
Not determined