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 are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa39754 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa12728 | Nonsense | Available for shipment | Available now |
sa19663 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39754
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000026201 | Nonsense | 134 | 527 | 4 | 13 |
Genomic Location (Zv9):
Chromosome 2 (position 4571164)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 5428606 |
GRCz11 | 2 | 5340590 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGCAGTCTGCCGTCAAGACCAAGTTTGAGCAGCACACAATCCGAGCCTGG[C/T]AGATCATTGAGTCGGTCAAGGCTATCATGGATGCCATCAATATTTCTTCG
Long Flanking Sequence:
ATGACATGCACAGATTAATTGTTCACCACAAAACTAGCAAAACTATTAGCAAAACTAGCAATGCTAACAAATTCAATATGGTTAGTTTTTATTTCATGTGTACTTTAGGCAAGCTGTTTTGCATCAGTCTGGGCCATCTGCTCGCTGCTGGCTCCCAGATGTGTGAGATACTTGCTGCTCCTCATAGATTCCAGGCAGGCATTTTCATAATGGCAAATCCCCGAGCCAAGTCTAGCGGATACGCGTAGGTGAGCGTACCGCGCATTCTTAGGACCCAGGGATGAAAATTCACAGTAATCTACGATGGCATTAATGGATGGCTCTGTTGGGATTCTGCAGAGGCCAGAGTAGCAAAACATGTCAGTCTGGCTGATGGGTGTAGATAACATCTTGCAGACGTGATCCCTAATAATTGTGGCGTAATTTCATTGGCTCCGCAGGAATTTATATCGCAGTCTGCCGTCAAGACCAAGTTTGAGCAGCACACAATCCGAGCCTGG[C/T]AGATCATTGAGTCGGTCAAGGCTATCATGGATGCCATCAATATTTCTTCGGCAGAAAAGAAGTAAGTTGCAGGATCTTTATAATCAAGGGTCTCTGTTTAAGTGCTCAAAAAGGACATGTGACATATTTTGATCGGTCCTCTTACTGAACCAAGGGCCAGACATTATTCAGTTTATGATTCACCAATCAGACGATTCCTAAGCCACTATAAATACCCTAAGCTCCATATGACAGCCATCTTCGTTTTAAAGAATCCCTCAGCTGATTTCTCTCGATATCTGCATCTAGGGCGGCAGAAAAAAAGAGGGCGGCGTCCGTGACACAACCCCCACCTGCTTTCACTTTAGGGTTGAGGGGGGTGTGACCGTCCTTTGCCTAGAGCGGCAGTTCAGCTTGCTCCGGCCCTGGCTCCAGATTTGGCTTCAATACTGACTAATCTAATGTGAATACACAAATATAATATTGTAAAGCTTCCTAATAAAAATAGGGGTCCATCCATA
Associated Phenotype:
Not determined
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
Mutation Details
Allele Name:
sa19663
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000026201 | Nonsense | 472 | 527 | 12 | 13 |
Genomic Location (Zv9):
Chromosome 2 (position 4555339)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 5412781 |
GRCz11 | 2 | 5324765 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCTCTCTGTCTGCAGGGAGATGGTGGCCGTCTTTGCCCGCATGTGCCAA[C/T]AGGTCGACAAGAGCGAGATGGAGCTTGAAACGGAGATCCGCAGACTCAGT
Long Flanking Sequence:
AACTGCTTCTTAAAGGGAATGTGAGATGAGACTCTGATTGGTTTAATGCACATTATGCTCAAAACACACCCACAACTCAGTAAGAGAATAAGCACAACCATGTAAGACCATGCGCCAAGGCGCAGACCGTATTTAGACTTCGCTTGCATGTTTGGCGCTTCAGACTTTACGCCTAGATCGTTCAAAAAGAGCCCAGTGACTCATTTGTCCAGGTATTTAAAATCAAATCTGTCCACACCAGCTTTACACACTGAAGGACGTGGACTTAGTTAAAGGTAAATAATACTTTACCTGCATTTATGAGCACTTAATCATTGAATATTTCAGCTAAGGCGATGACAGCACAATAAAAACAACACCTTAGTCTACTGACCTGAATGCAAACACACTTTTTTGACGTCTAAAGCATTGGTTTGATCTGCAGAATGAGGGTGTGAGGGTGATGGATGTGCCTCTCTGTCTGCAGGGAGATGGTGGCCGTCTTTGCCCGCATGTGCCAA[C/T]AGGTCGACAAGAGCGAGATGGAGCTTGAAACGGAGATCCGCAGACTCAGTGCCAGGATTCAGCGCCTGGAGAGTGTCCAGAGACGCTCCAAAACCCTCAGGTAGAACCGTCAGGATGTGCGTGAGAGAGAATGACAGCTTGCACTGGGGATAATTACCTTTAATCGAAAGCAAATCCTTGTCAATTGGTAATTCTGCAGGAGTAAGCGAAGGAAAGGTGAGGAAACATTGTGTAAAAATTGTGTTTTTTTAACCCTTGTGTGTGTTGGGAATGTTTTCATCCAATCTGAGGTGATTTTGAGTCTTAATTTGACCACATCTTTCACTGTGTGAAAGCAAGTGGAATAATATTTGGTGCCAAACCTTGTTTTGACACATATTTTGGATAAATGCTTTGAAAATGTTCTAAAACTCAACAATACACTCTGGGCAAATTGACTACCCTTTCATTATGTTGGTGGCTGTTTTTGCCCCATTGACTTCCAATACATTATTATAAAC
Associated Phenotype:
Not determined