Busch Lab

ZMP

sept7a

Ensembl ID:
ENSDARG00000052673
ZFIN ID:
ZDB-GENE-040426-1008
Description:
LOC100000597 protein [Source:UniProtKB/TrEMBL;Acc:Q4V8R9]
Human Orthologues:
SEPT7, SEPT7L
Human Descriptions:
septin 7 [Source:HGNC Symbol;Acc:1717]
septin 7-like [Source:HGNC Symbol;Acc:30810]
Mouse Orthologue:
Sept7
Mouse Description:
septin 7 Gene [Source:MGI Symbol;Acc:MGI:1335094]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa28743 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa42820 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa28743
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000074575 Essential Splice Site 50 428 4 14
Genomic Location (Zv9):
Chromosome 16 (position 50625605)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 47479680
GRCz11 16 47414766
KASP Assay ID:
2261-0318.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATTCAGGTCTTGTTTTAACCTTCTGTGTATTTTCTGCTCTTTTTTTTTC[A/T]GGAGAATCGGGGTTGGGAAAGTCCACACTGATAAATTCTCTGTTCCTGAC
Long Flanking Sequence:
TATTAACATTGACAGTGGTGAGGTAGAATGTAAATGTCCATGTAAAATGGCTTTTATAAGGACAAATTATTTGTTAACACCAAATATTATTGAAGTCATGTCCAAATATTAAACGTTAAGTCGACATAATTATTGTCATGTTTCTACATAGTCCATCAAAAACAATTCCATTTGCTGATCTTGAAACATTTCATTTTCCAATTAATGCTGAATACAGCTTCTTAATATTTCGTGGATTTGAAAGGATTCAGGATTCTTTGATTAAATTAAAAGTTTGAGATCAGTGTTTATTTGAAGTATAACTCTTTAAGTGTCTTGATTTTATTTTCGTTTAAATGGTATTGTATACAGAAGAATCTTATAACCTATACTCGATCACTATTCTTTTGGTGTCTTCCAAGCCCTGGTGTTTCCGCTCAGTAAATCTAGTTTTTATAGGATGATGTGCTGAATTCAGGTCTTGTTTTAACCTTCTGTGTATTTTCTGCTCTTTTTTTTTC[A/T]GGAGAATCGGGGTTGGGAAAGTCCACACTGATAAATTCTCTGTTCCTGACCGATCTGTACTCTGGAGAATATCCTGGGCCTTCGAACAGAATCAAGAAAACTGTTCAGGTACGAAGTGAAGATGTTTCCTAATCGTCTATACATGACTTTTGTTGCTGTTCACTTGTGCACTGGAAAAAGAAGCGGCACATGATTTTTCTTAATTTTTTTACTTGAAGATTGCTGTATAATGGTTTTTAGAAGAATGCTTTGACACTTGCAGGTTCTTCTCTAGCATACTTTAGTAATACTTCAGTAATAGCTATGCTATGGCCTGCATGTTTGTACTTGTAGCTTATAGAGTGACTGTGAGTCCAAAGCTTTACACACCATTTCATCTTCATGAAATGTGTAATTGCGTCACATGGCGCTAATACACAGAGATATGGGAAAGTGTGTTTCACGCTTCTAAAGTGTTGAAGCATAGACTAACACCTGGCATTTACACCATACTTTCGTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42820
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
ENSDART00000074575 Essential Splice Site 326 428 11 14
Genomic Location (Zv9):
Chromosome 16 (position 50610355)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 47464430
GRCz11 16 47399516
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCACCTGTAACGGCATCGACAACAACAAAGCCAAAGGCCAGCTCACCAA[G/A]TAAGTGGCATTGAGCAACATTGTATTAAAGTATTGAACCATTTCAAATGT
Long Flanking Sequence:
ATCAAATGTGAAGTGTCTTAAAGGGGGCGGGGCATGTCAGATACAAGAGAGCAATCAATTGGTCAGAAGATTTGAAGTATGAGGTGCCGTGAATAAAACTGTTGATCCATTTAAGCGGGAGTAGCAAACTACAAGCTTTATGTGTGTATATCAGTTTTAAATCTCCTAAATAAAAGTTTTGACATTGTTTTGGTGCACGCTAGGTTATAAATATCCTAAAAGCTAACAATACTGATACTAATATTTCATGGGACCTTAAATATAATCTGTATGTGCTGTATACTTTTTCCTCGCCTAAAGCTGGCATAGCGTTAAACACAAACAAGCAAACATCACGTAAAGGGGTTTTGTTTTAACCATATGTTTTGTGTCAGAACTCACATGCAGGACCTCAAGGACGTAACAAATAATGTCCACTATGAAAACTACCGAAGCAGGAAGCTGGCGGCCGTCACCTGTAACGGCATCGACAACAACAAAGCCAAAGGCCAGCTCACCAA[G/A]TAAGTGGCATTGAGCAACATTGTATTAAAGTATTGAACCATTTCAAATGTCGGAGCTAAAAATGACCTCATTTGCATTCAGAAAGATATTTGCCTGTGTGGTTTTAGTGTGTTTATATATATCATAAGTGTGTGCGGAAATGACTTGGAATGACATAAGATCACATTCTTCTCTGACAAACAGGGTTCGTTGTGTAAAAATAAGTGAATGTAAATTACTACACTCAAAGCAAAATTATATTCCTGACAAGCGTCATCACAATACTTTAGTGTAGCTTTTCCTATATTTGATTATTATATTAGCGTTTATACTTCTAAATATTTGAAATGGCGTCCTACACCTGAAACAAAGCAAAAACAACACAGTCCTATTAACCTTAATGTTGAATATATTTGCATGCTGTAAACGTCAGTAGAGATTTTAATTGAGAGATTCAGTTTCTTCTTTCTTTTTGACATTTCAAATCGATTCGTGTCAGTGATGCCCAGTTGCCAAAGCAC
Associated Phenotype:
Not determined