Busch Lab

ZMP

mfn1

Ensembl ID:
ENSDARG00000005121
ZFIN ID:
ZDB-GENE-040426-1553
Description:
mitofusin-1 [Source:RefSeq peptide;Acc:NP_956941]
Human Orthologue:
MFN1
Human Description:
mitofusin 1 [Source:HGNC Symbol;Acc:18262]
Mouse Orthologue:
Mfn1
Mouse Description:
mitofusin 1 Gene [Source:MGI Symbol;Acc:MGI:1914664]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa19014 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa19014
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000006830 Essential Splice Site 287 420 6 9
Genomic Location (Zv9):
Chromosome 11 (position 45368812)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 44149158
GRCz11 11 44458853
KASP Assay ID:
2260-4717.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGGTCACCTCACGCACGTCTATGAGCGTGATCATTGTTGGAGGAGTGG[T/C]GAGAATCATCTATTATTTACACTTTACTGAATCACCCATCATTTATATAG
Long Flanking Sequence:
TTTTCTGTTTTTTTGGGGGGGGCAATTTTTAGCTTTTTGGGGCAGTTTTTTTTCTTTTTTGGGGGGGGGGGGGGGCAATTTTTAAAAGTTTTTTTACTTTTATAATAATTAATAATCATGAGCATTTGACAATTTTCTGTGTTGTTATGTTATTTTAAGTTATTTTCTGTTTTGAAATTGTTTTTAGGACTTTTTTTGCCTATAATTTTTCTGTTTTTGGTGCAATGTTTTGTTTTGGAAGTTTTTTCAGTTGATTAATTTTCTAATTCAAGGCTTTGACAATTAAATTCTCACTGTGTTGTATCTCTGGTTGTTTTTTCCTCAGCTGACAGCACCAACCACCCCTACAGCCCCAGCGGTGGTTCAGTCCCAGAACTCCAGAGCTCTGGGTCAGAATCAGGCCTCAGTGACCCAGGAGGAGCTCATGTTGACCATGGTGAATAACCTGGCCTCGGTCACCTCACGCACGTCTATGAGCGTGATCATTGTTGGAGGAGTGG[T/C]GAGAATCATCTATTATTTACACTTTACTGAATCACCCATCATTTATATAGCAGGCTTGATCACTATATGACTGTAGAAAGATGGATCTAGAATGTAGAATGAAAGATCTTTATTTTGGAGATTGGCAGGTAAAATATGCAGCAATCACTCCTGTGATAAATGCCAGTTGTGTTTGGAGGTGCTTTAACAATTAATTTTCTCTTTTTGTCAGATTTTTGTGTAACATGTCTTCATTAATGTTTTTGATGATTCATTTTTCTGTTGAGTTTTTTAGGTGATTTATTATTTTTTTTATACATTTTTAACAACTAATTTCATGTTTTCATTTTTGGGGAATTAATGTTTAGTTTTAGGGGCTTTTGCTAATTAAATTTCTGTTTTTGGTGGACTTTCTCATTAAAAGATATATTTAAAAAAAAGATATATTGATGCATAGATATACATTTTTTGCATTTTTCTTCCAATGTTTCCAGGCCTGTAATTTATTTGAGTAATTAAAT
Associated Phenotype:
Not determined