ZMP
MFN1 (4 of 4)
Ensembl ID:
Description:
mitofusin 1 [Source:HGNC Symbol;Acc:18262]
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 is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa12728 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12728
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000026201 | Nonsense | 460 | 527 | 11 | 13 |
Genomic Location (Zv9):
Chromosome 2 (position 4559346)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 5416788 |
| GRCz11 | 2 | 5328772 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGCAGGCCGTCGCACACWTCATCAGTGGAGACTCTGGTCAGCAGGTGCAA[C/T]AGTAAGTGCCAAYAATAATCWAATATTCATTCATTNNNNTTCTTGTCGGCTTAG
Long Flanking Sequence:
AACTTTCAATTTTCGCGTTAACGATCCCTTTAAATGTAGCTTGGTCTGGTAATTGCTGAGTAAAAAGTGAGTACATTTTTTATTTGGGTGAACTATCCCTTTAAATGTAGCTTGGTCTGGTAATTGCTGAGTAAAAAGTGAGTCATTTATCATTTTTGGGTAAACTATCCCTTTACATGTAGCTTTGTGTGTAAATTGATGAGTAAAAAGTGAGTACATTTTCATTTTGGGGTGAACTATCCCTTTAATACTTGAAGTATAAGCACAATGGTGTAAAAGATGCTTGTGTGGTGCTGTTTGTCTAGGTGTGGCGTGCTGTGGGATGGAGGGTTATTGTACTATCTGTGAGTCTCTACAGTTTCCTCTACTTGTATGAAAGACTGACGTGGACCAACAGCTCTAAAGAGAGGGCTCTGAAGCAGCAGTATGTGGACCACACCACTCAAAGACTGCAGGCCGTCGCACACATCATCAGTGGAGACTCTGGTCAGCAGGTGCAA[C/T]AGTAAGTGCCAATAATAATCAAATATTCATTCATTTTCTTGTCGGCTTAGTCCCTTTATTAATCCGGAGTCCCCACAGCGGAATGAACCGCCAACTTATCCAGCACATTTTTACGCAGCGGATGCCTTTCCAGCCGCAACCCATCTCTGGGAAACATCCACACACACATTCACACACAAACACTCATACACTACGGACAATTTAGCCTACCCAATTCACCTGTACCGCATGTCTTTGGACTGTGGGGGAAACCGGAGCACGCGAATGCAGGGAGAACGTGCAAACTCCACACAGAAACGCCAACTGAGCCGAGGATCGAACCAGCGACCTTCTTGCTCTGAGGTGACAGCACTACTTACTGCGCCACTGCGTCGCCATCAAATATTCAAAGCTAAAATAAATTAATTTGAAAATAGTTCAAATTTTGTCACACTTTATTTCCTATTCTACACTATTCAACTGTACTTTGGTCTGCATTAAATACAAAAGATGATATTTAA
Associated Phenotype:
Not determined