Busch Lab

ZMP

enkur

Ensembl ID:
ENSDARG00000031248
ZFIN ID:
ZDB-GENE-070718-1
Description:
C10orf63 protein [Source:UniProtKB/TrEMBL;Acc:Q7ZWE8]
Human Orthologue:
ENKUR
Human Description:
enkurin, TRPC channel interacting protein [Source:HGNC Symbol;Acc:28388]
Mouse Orthologue:
Enkur
Mouse Description:
enkurin, TRPC channel interacting protein Gene [Source:MGI Symbol;Acc:MGI:1918483]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa14631 Nonsense Available for shipment Available now
sa25208 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa18613 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa14631
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
ENSDART00000042478 Nonsense 121 299 3 5
Genomic Location (Zv9):
Chromosome 24 (position 6806379)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 6646449
GRCz11 24 6675778
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGATTTGTCTGATCATTWATTTYTGCTGTTTCAGAGAAACCATTTAAATA[T/A]GAAGATGATGAGCTGCATTATAAACCACCAGTACCTGCTAGAACTGACAA
Long Flanking Sequence:
TAAAGTGGACGTCCCATTGCCACAGAAATATCTACTAAAACACTCGAAGGAACCCAAACTCCCTGAAAGTATGTGAAATATCTAATATATATATATTTTTTTTATTTATTTATTAAATTTACTTGGTTCACCCAAAAATAAAAATTTCCTCATCACACTTGAGTGGTTCGAAACTTGTATGAATATCTTTCTTCTGTTGTGTCATTGATATCCATAGCAGGAACAAAATTACTATTGAAGTAAATGACCTTTTTGTTGTTGTTGTTGTTGTAGTCTTTAGTATATCTTCCTTTGTATTTAACAGAAGAAAGAAACTCAAACAGGTTTGGAAGTTAAGGAGGAGTAAATAATGACAACATTTTCATCTTTGGATAAACTACACTTTTATTACATAACATACATATCTTTTCATACAATAATAAATGCCAATGTTTTTGTATAAATCACTAAAGATTTGTCTGATCATTAATTTTTGCTGTTTCAGAGAAACCATTTAAATA[T/A]GAAGATGATGAGCTGCATTATAAACCACCAGTACCTGCTAGAACTGACAAGCCGCTCATGGGTCTTCATACCAACAAGAACTTCATTAAGACCAATGCCGTTGAGAATATCATGGCAGTCCCGAAGAAACCACAGCCGGCGTACACTGATACAAAAAAGGGAGACAAGCAACCGCTTGAAAACTCTGGTCTCGTTCCTAAATATATAAAGAAGAAGGTGAGGAGAGGGATTTAATCAGTTTCCTGCTTTTGTATTCATGCAGAACAGACACTAGCATACTTTATTAAGCACACCTTGCTAGTACTGGACCCCTTTTGCCTAAAGGGATAGTTCATCCAAACATGTTCTCACTATTTACTCACCCTCAGTGGTTTCAGAACATTTATGAGTTTCTTTCTTCTGTTGAACACAAAAGAAGATATTTTGAAGAATGTTGGAAACTGGTAACCATTTACTTCTATAGTTGTAATAAACTCATCAAGTCACTTTCGTCTGCACAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25208
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
ENSDART00000042478 Essential Splice Site 193 299 3 5
Genomic Location (Zv9):
Chromosome 24 (position 6806162)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 6646232
GRCz11 24 6675561
KASP Assay ID:
554-7596.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAACCGCTTGAAAACTCTGGTCTCGTTCCTAAATATATAAAGAAGAAG[G/A]TGAGGAGAGGGATTTAATCAGTTTCCTGCTTTTGTATTCATGCAGAACAG
Long Flanking Sequence:
CAGGAACAAAATTACTATTGAAGTAAATGACCTTTTTGTTGTTGTTGTTGTTGTAGTCTTTAGTATATCTTCCTTTGTATTTAACAGAAGAAAGAAACTCAAACAGGTTTGGAAGTTAAGGAGGAGTAAATAATGACAACATTTTCATCTTTGGATAAACTACACTTTTATTACATAACATACATATCTTTTCATACAATAATAAATGCCAATGTTTTTGTATAAATCACTAAAGATTTGTCTGATCATTAATTTTTGCTGTTTCAGAGAAACCATTTAAATATGAAGATGATGAGCTGCATTATAAACCACCAGTACCTGCTAGAACTGACAAGCCGCTCATGGGTCTTCATACCAACAAGAACTTCATTAAGACCAATGCCGTTGAGAATATCATGGCAGTCCCGAAGAAACCACAGCCGGCGTACACTGATACAAAAAAGGGAGACAAGCAACCGCTTGAAAACTCTGGTCTCGTTCCTAAATATATAAAGAAGAAG[G/A]TGAGGAGAGGGATTTAATCAGTTTCCTGCTTTTGTATTCATGCAGAACAGACACTAGCATACTTTATTAAGCACACCTTGCTAGTACTGGACCCCTTTTGCCTAAAGGGATAGTTCATCCAAACATGTTCTCACTATTTACTCACCCTCAGTGGTTTCAGAACATTTATGAGTTTCTTTCTTCTGTTGAACACAAAAGAAGATATTTTGAAGAATGTTGGAAACTGGTAACCATTTACTTCTATAGTTGTAATAAACTCATCAAGTCACTTTCGTCTGCACAAAACGGTGTCATAGTTGCTTTTGATAAATGTCAAGAAAATAAAGCAGTGTTTGTTAACTCTGCTTAAAGGAAACGAAGAGCAAATCATTTAAATAATAAATATTTTATAACAATTTATGAAGCCGCTCAAAGCGATTTAATATAAAAATGTATTCATTAATTGTTATATTAAAATCCTGTGACCAGGGTTGAGTGTAATTAGTTATAAAGTAATTCGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18613
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
ENSDART00000042478 Nonsense 216 299 4 5
Genomic Location (Zv9):
Chromosome 24 (position 6804386)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 6644456
GRCz11 24 6673785
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAAKATYTGCTTCAGCGCAGAGAGGAAGTCAGGAAAGCACAAGAGGAATW[T/A]GACAGCTACGTCAAAGAGCRGATGAAAGAAGGGGCCATGAAACAGCTCTC
Long Flanking Sequence:
AAATATCTAGTAAAATCTAGTAAAATATTATTTACTGTCAACAAGGCAAAGAAAAAATAAATTACAGATATTAGAAATGAGTTATTAAAACTATTATCTTTATAAATGTGTTGAAAAAAATCTGCTCTCCATTAAACAGAAATTGGGGAAAAAATTAAACGGGGGGCTAATAATTCTGACTTCGACTGTATGTGTGTGTGTATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTGTATATATGTGTGTATGTATGTATATATATATATATATATATATATATAGATATATATAGATAGATATATATATATATACAAATAAGAGACTCCTCCTCAGGCATGTTTTAATGTGTGTTTCCAGGATTATGGTCAGACTCCAGAATATTTGCTTCAGCGCAGAGAGGAAGTCAGGAAAGCACAAGAGGAATA[T/A]GACAGCTACGTCAAAGAGCGGATGAAAGAAGGGGCCATGAAACAGCTCTCGGGTGAAGAGCGATTCAAAATCCTGCAGGTAAAGACAAAAACAAACTATGCAATACATCATTTTGAATTGTTTACAGACACTTCTCTCTTATTGCTTTGCATTGCAAAATGTGCTATATTAATTTTTTTATTTGAACAGGTAATTGTGAAGCTTGTTTGTCTAAGAAAGGCTGTATACTGATTTTTTAAATAGCAAGAATTGTCTAATGACTTGACTTTTGACAGGCTTTGAAGAAGAACTGGGACGATCTTCATCACCAATACCAGGGTCTCTCGGTTGTCATTGACACGGCTCCCAAAAAATACAGGAAGGAGCGACTAGAGCAGGAAATGAAGCAGCTGGAGAGAGATATTGACATGATTGAGCGTCACAAAACCATCTACATTTCGAATAACTAGTAGTTCTGAGTTCAGCAAATATCCAAGAACAACATTTAAAACAAATGTCTT
Associated Phenotype:
Not determined