esyt1b

Ensembl ID:
ENSDARG00000014239
ZFIN ID:
ZDB-GENE-040724-209
Description:
Novel protein similar to mouse and human membrane bound C2 domain containing protein (MBC2) [Source:
Human Orthologue:
ESYT1
Human Description:
extended synaptotagmin-like protein 1 [Source:HGNC Symbol;Acc:29534]
Mouse Orthologue:
Esyt1
Mouse Description:
extended synaptotagmin-like protein 1 Gene [Source:MGI Symbol;Acc:MGI:1344426]

Alleles

There are 7 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa13012 Nonsense Available for shipment Available now
sa10630 Nonsense Available for shipment Available now
sa20822 Nonsense Available for shipment Available now
sa40794 Nonsense Mutation detected in F1 DNA During 2018
sa30880 Nonsense Mutation detected in F1 DNA During 2018
sa26837 Nonsense Mutation detected in F1 DNA During 2018
sa1525 Essential Splice Site F2 line generated During 2018

Mutation Details

Allele Name:
sa13012
Current 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
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Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014819 Nonsense 317 1032 9 35
ENSDART00000140223   None 314 None 10
ENSDART00000144174 Nonsense 352 1076 9 31
Genomic Location (Zv9):
Chromosome 6 (position 52235795)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 52284977
GRCz11 6 52284976
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTGTGATGGCCGGCATGTCTGACCCGTACGCCATTGTCCGAGTCGGACCA[C/T]AAACCTTSAAATCCCATCACCTGGACAACACKCTCAGTCCCAAATGGGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10630
Current 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
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014819 Nonsense 746 1032 23 35
ENSDART00000140223   None 314 None 10
ENSDART00000144174 Nonsense 705 1076 20 31
Genomic Location (Zv9):
Chromosome 6 (position 52263496)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 52312678
GRCz11 6 52312677
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGGCAGTGCCGTCTGCAGCTCTCCTGTTTKTGTATGTGGAGCAAGCATAT[G/T]AGCTTCCTGTGAGTATTAACACTAATGTTAGCTCTTTAAWTAGCTCATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20822
Current 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
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014819   None 1032 None 35
ENSDART00000140223   None 314 None 10
ENSDART00000144174 Nonsense 840 1076 24 31
Genomic Location (Zv9):
Chromosome 6 (position 52269026)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 52318208
GRCz11 6 52318207
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCGAAGGATGGTCTGATGGGTGGGATGGTGAAGGGGAAAAGTGACCCGTA[T/A]GTTAAGATCCACATCGGTGACACAACATTTAAGAGTCACGTAATCAAGGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40794
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014819 Nonsense 823 1032 26 35
ENSDART00000140223   None 314 None 10
ENSDART00000144174 Nonsense 1049 1076 31 31
ENSDART00000014819 Nonsense 823 1032 26 35
ENSDART00000140223   None 314 None 10
ENSDART00000144174 Nonsense 1049 1076 31 31
Genomic Location (Zv9):
Chromosome 6 (position 52272815)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 52321997
GRCz11 6 52321996
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCGAGCAGCCGCTGGGCTCTCTGGTTCTGCCAATCAGAGAGCTGCTTTCT[A/T]AAACAGACCTGCTGATGGACCAATGGCTGAGTCTGGATGGAGCAGCTGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30880
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014819 Nonsense 823 1032 26 35
ENSDART00000140223   None 314 None 10
ENSDART00000144174 Nonsense 1049 1076 31 31
ENSDART00000014819 Nonsense 823 1032 26 35
ENSDART00000140223   None 314 None 10
ENSDART00000144174 Nonsense 1049 1076 31 31
Genomic Location (Zv9):
Chromosome 6 (position 52272815)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 52321997
GRCz11 6 52321996
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCGAGCAGCCGCTGGGCTCTCTGGTTCTGCCAATCAGAGAGCTGCTTTCT[A/T]AAACAGACCTGCTGATGGACCAATGGCTGAGTCTGGATGGAGCAGCTGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa26837
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014819 Nonsense 842 1032 26 35
ENSDART00000140223   None 314 None 10
ENSDART00000144174 Nonsense 1068 1076 31 31
Genomic Location (Zv9):
Chromosome 6 (position 52272872)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 52322054
GRCz11 6 52322053
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACCTGCTGATGGACCAATGGCTGAGTCTGGATGGAGCAGCTGCTGACAGT[C/T]AGATTCTTCTCAGAGCTCAACTCAAGGTCAGACTGAGCTTTTTCTGATCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1525
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014819 Essential Splice Site 934 1032 32 35
ENSDART00000140223 Essential Splice Site 217 314 7 10
ENSDART00000144174   None 1076 None 31
Genomic Location (Zv9):
Chromosome 6 (position 52284657)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 52333839
GRCz11 6 52333838
KASP Assay ID:
554-1449.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTCCATGTCCTTCCAGAAGAAGCTGACGCTGCTCGTCCACAACTGCAGG[T/A]CTGAGCTACACTCATGACGAGTTNNTGAGTTATCTCTGTNNGTGTGAAGTTT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Systemic sclerosis: Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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