Busch Lab

ZMP

espn

Ensembl ID:
ENSDARG00000076414
ZFIN ID:
ZDB-GENE-081105-173
Description:
hypothetical protein LOC567061 [Source:RefSeq peptide;Acc:NP_001116754]
Human Orthologue:
ESPN
Human Description:
espin [Source:HGNC Symbol;Acc:13281]
Mouse Orthologue:
Espn
Mouse Description:
espin Gene [Source:MGI Symbol;Acc:MGI:1861630]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa31679 Essential Splice Site Available for shipment Available now
sa45337 Nonsense Mutation detected in F1 DNA Not yet available
sa10717 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa31679
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111071 Essential Splice Site 163 870 3 14
ENSDART00000139422 Essential Splice Site 163 1476 3 12
ENSDART00000146631 Essential Splice Site 163 873 3 13

The following transcripts of ENSDARG00000076414 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 49137095)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 46990490
GRCz11 8 46980956
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTAAGCTGAAGGAAAATGATTGAATGAATGAATTTCATTGTTTTGTTTTC[A/T]GAGTTGTCAATTTTCAAACCAAGAATGGTGCCACACCACTATACCTTGCA
Long Flanking Sequence:
AGCCTGATCTCACGATGAAATTTAAGTATTTTACGGTTTGTCAGTTTAGTGGCTAATTCCGACGAATTCGTTCAGTCATACGAAAATGTACGATTTTAAAAAGGAGGCGTGGCACCTAACCCCACCCTTAACCACAACCGTCATTGGGTGATAAGCAAATCATACTAAATAGTACGAATTAGATCGTAAGAATTCATACAAATTAGCCACTAAATCAAAAAGTTACGAATTGCTGTGAGTTTGCGTTGGTTTACCTCACAGTCCAAAGACATACGCTATACAGTAAGTGAATTGAATAAAATAAATTGGCCGTAGTGTATGTATTTGATTGAGTGTGCATGGGTGTTTCCCAGTACTGGGTTGCAGCTGAAAGGGCATCCACTGCGTAAAACATATGCTGGATAAGTTTAAGGTTCATTCCACTGTGGCGAACCCTTATGAATAAAGGGACTAAGCTGAAGGAAAATGATTGAATGAATGAATTTCATTGTTTTGTTTTC[A/T]GAGTTGTCAATTTTCAAACCAAGAATGGTGCCACACCACTATACCTTGCATGTCAGGAGGGCCACCTGGAAGTTGTCCAGTACCTGGTGAAGGACTGCGGGGCGGAGCCAAGTATTAGAGCCAATGATGGGATGACACCACTGCACGCTGCTGCCCAGATGGGACACAACACTGTCATTGTCTGGCTGGTGAGCTGAAAACTGCTTCTATTATTATTTCTTTTATGATCTCAGTGGATTGGGGACAACATTGCTAACGGTTTTCGTGTGTTTTTTTTTGTAAAATCTTGTAAACCATATTTATATATTGTCAGTATTTTTGACCCCCAAAATAAGGAGAAACTCCATTAAACACATGTGAACTTAGTATATGTGTTAAGCTTAAGACTATTGGACTATATTTAATACACAAAGTACTCTGAATGATCATAAGGTCTTTACTACATAAGCAACATTAATTAGCATTACTAAAATCTTGCTAAAATAAATAATGTATGTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45337
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
ENSDART00000111071 Nonsense 706 870 11 14
ENSDART00000139422 Nonsense 713 1476 11 12
ENSDART00000146631 Nonsense 713 873 11 13

The following transcripts of ENSDARG00000076414 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 49219601)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 47072996
GRCz11 8 47063462
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAACCCAACGACACCCAATCCGCGAAGCCAGAATCTCCACCGCCTGCTTG[T/A]CCACCGACGCCACCCAATCCCACAGCCAGCAGGTCGTCACCCCAGAACCT
Long Flanking Sequence:
ACAACATCGATGCTGTAAACGGAACCGTATAAAATGAAAACAAAAATCACAATAACAGGTCACCGGAAGTTTATCAGTATGGGAACAACACTAGCTCGGCATATACCCTATTAACCTAGTTAAGCCTTTAAATGTCACTTTAAGCTGTATAGAAGTGTCTTGAAAAATATCTAGTCAAATATTATTTACTGTCATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATTAATAGAAATGAGTTATTAAAACTATTATGTTTAGAAATGTGTTGAAAAAATCTTCTCTCCGTTAAACAGAAATTGGGGAAAAATAAAAACAGGAGGGCTAATAATTCTAGGGGGGCTAATAATTCTGATTTCAACTGTGTATTTTCTTCTAGAACCTTCAATTCTGCTCATTTTCTCTTACAGGGGGAAAGTCCATCATCGCCGCCAGAGCCTCTGCCAAAACCCAACGACACCCAATCCGCGAAGCCAGAATCTCCACCGCCTGCTTG[T/A]CCACCGACGCCACCCAATCCCACAGCCAGCAGGTCGTCACCCCAGAACCTGTCCACTTCACAGAGCAGCGACCAGCTCACAGCTGCGGTCAACGGTAACACGTCTGTCGTCCAGAACAAGACCAGCGTGGTGGACGTGGAGAGTTTGGTGCCCACGCACGACGAGCAGGGCCGAGCCATTCCAGAGTGGAAGAGGCAGGTGATGGTCCGAAAACTGCAAGTGAAGATGCAGGAGGAGGAAGAGAACAAGAGAAAGGTGAGTGAGAGAATGTTTCCAGTGCCAAACATGAGTTGAAGTCAAAACTATTAGCCTTTTTTTTCTTTTAAATATTTCTCAAATTATGTTTATTAGAGCAAGGAAATTTTCACAGTATTTCCTATTATATTATTTCTTCTGGAAAAAGTTCTTATTTGTTTTATTTCGGCTACAATAAAAGCAGTTTAAATTTTTTAAAAACTATTTTAAGGGCAATATTATTAGCCCCCTTAAGCAGTATTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10717
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111071 Nonsense 805 870 12 14
ENSDART00000139422 None None 1476 None 12
ENSDART00000146631 Nonsense 812 873 12 13

The following transcripts of ENSDARG00000076414 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 49239783)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 47093178
GRCz11 8 47083644
KASP Assay ID:
2260-1107.1 (used for ordering genotyping assays)
KASP Sequence:
TGTGTGACAGRCTGAAGAAGAGGCGGCTCGTCTGGCATCCTTACCTGCGT[G/A]GAGGAGAGACATCATGAAGAAAAAATTRGAGGAAGAGAAGTGAGTTAGAT
Long Flanking Sequence:
TAATATGTATGTACAGTTGAAGTCAGAATTATTAGCCCTACTTATTTCTATTTATCTGAAAGCAGCCCATTTCTAAACATAATAGTTTGATAACTCATTTCTAACGACTGATCTCTTGTATCTTTATATCTAAAAATATGTATTGCTAAATGGGGGTAATAATATTAATATTTCATTCTAGCCTAAATAAAACAAATAAGACTTTCTCCAGAAGAAAACATATTATAGGAAATACTGTGAAAAATTCCTTGCTCTGTTAAAAACTGCCCCCCTCCCTGCAAAAAAATCACATAATTCTGACTTCATCTGTGCTTATATCCAGTTTTCTAGTATTCAAAATTCTTTTACATACGTGAATTTGTTGTTTAAACAGGATTTTATTTCCCCCCCAGCTCACTGTAGTAACATCTTGAGGTCGTCTTCATGAAAAATGTGCTTGGTTTCTTTCTGTGTGTGACAGGCTGAAGAAGAGGCGGCTCGTCTGGCATCCTTACCTGCGT[G/A]GAGGAGAGACATCATGAAGAAAAAATTGGAGGAAGAGAAGTGAGTTAGATCCAGAGCCTTTCTCCCTACTATCCCCTTTGTTTGTCTGTCAATTGTTTGTACTGTAAACCTCACTGACCTTCATTCTTCCTTGTGAAACTTGATTGAAAAGTGTTACTTTTGTAATTTCATCCTTTTTATTTTACACTCACAATACTAGTCACATTTTTTCACAAAGAAATGTGTTTACCTTAGTATTGTGAGGCGCCTTGACGTTTAAAGGTGTGTTCACAATTCACATATATAGATATTAACTTTTGGTTGCTTATGTCTGACAATCCTACATTTAGCTCTGGTTCATGATGTGTTTACACTGTCAGTTTTAAGACGGCACCGATTTTTGGTCTTGTTCTTTGTCTAAGTATCTAAAAAAGTCTTAAATCATTTTCTAGACAAGCAACACATTTTTATGTTGTTTTAAGAAATAATATGCCACAGTTAAGTGAGATTTTTCTGAAACA
Associated Phenotype:
Not determined