Busch Lab

ZMP

MFN1 (3 of 4)

Ensembl ID:
ENSDARG00000091745
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 2 alleles of this gene:

Allele Name Consequence Status Availability
sa39755 Nonsense Mutation detected in F1 DNA Not yet available
sa30812 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa39755
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124290 Nonsense 181 191 4 4
ENSDART00000124290 Nonsense 181 191 4 4
Genomic Location (Zv9):
Chromosome 2 (position 4989959)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 5435389
GRCz11 2 5347373
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAACCAAGTGTGTCCTGCTGAGAGATGACCTGGTCTTGATGGACAGGTA[T/A]GAACACCTTCACGCACGAGTCGCACGACTTTAGGGCTGTCAAAGCTGAAC
Long Flanking Sequence:
GCTTTGAATATTTTTGCTAAACAGATCATTTGTTACAATTTGTCTTGTTTCTTAGGACCAGTAATGGAAAGAGTACTATAATCAATGCCATGCTGAGGGAGCGGGTTCTGCCCAGTGGAATCGGCCACACCACTAACTGCTTTCTGAGTGTGGAGGGCACAGATGGAGAACAAGCCTACCTGACCACTGAAGACTCGGAGGAGAGGAAGGGTATTGAGGTAAGACTCAAACAGTACGAAAAAAGAAGTTGAAAAATGAATTACAAGTCATTTACAGTTTTTCTCAATTGCTTTGGCACATTTTTCAACAGTCTTAACATTGTCTAAACCCTGAGTGCAAATCTCAGAATACTGTGTGTCTCTCCTGTTGAAGACAGTCAATCATCTGGCTCACGCTCTGCATATGAACAGGAACCAGGACTCAGGCTGTCTGGTTCGAGTGTTTTGGCCTAAAACCAAGTGTGTCCTGCTGAGAGATGACCTGGTCTTGATGGACAGGTA[T/A]GAACACCTTCACGCACGAGTCGCACGACTTTAGGGCTGTCAAAGCTGAACTTATTTCAATTGTAACAACTACTCTTTTTTTTGAAGCTACATTAAAGAAATTGAGAGACCACAAAACAACTTTCAGAGATTCATGTGTATTTAGAATAAATGTATATGACAACAGGTATGAATAATTATTGTTATACACTGGGGATATGAAATGATCAGCAGTCAACTCATTAATGATCACTTTTCGACAGAAATAAACATTTGATAAGTGTCTTTCTCATTGAATCCAGTATTTATAGCAAGCAAAAAAGATACCATCAGTCCTTAAGTGGATCACATGAAAGATCAATTTCAGCAAACAGTTCATCAATGGTTGACCACGGAATCAGTAGGAAAGTGGATGGAAAAAGTCTGCGGATATGAGGATGGATTGTCCAGGTCCTGTTTTGATGACTTAAAGTGTATACCAAAAACCCTATCTGAGGTATAAGAACAAAAAGGTTCCTCAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30812
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124290 Nonsense 181 191 4 4
ENSDART00000124290 Nonsense 181 191 4 4
Genomic Location (Zv9):
Chromosome 2 (position 4989959)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 5435389
GRCz11 2 5347373
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAACCAAGTGTGTCCTGCTGAGAGATGACCTGGTCTTGATGGACAGGTA[T/A]GAACACCTTCACGCACGAGTCGCACGACTTTAGGGCTGTCAAAGCTGAAC
Long Flanking Sequence:
GCTTTGAATATTTTTGCTAAACAGATCATTTGTTACAATTTGTCTTGTTTCTTAGGACCAGTAATGGAAAGAGTACTATAATCAATGCCATGCTGAGGGAGCGGGTTCTGCCCAGTGGAATCGGCCACACCACTAACTGCTTTCTGAGTGTGGAGGGCACAGATGGAGAACAAGCCTACCTGACCACTGAAGACTCGGAGGAGAGGAAGGGTATTGAGGTAAGACTCAAACAGTACGAAAAAAGAAGTTGAAAAATGAATTACAAGTCATTTACAGTTTTTCTCAATTGCTTTGGCACATTTTTCAACAGTCTTAACATTGTCTAAACCCTGAGTGCAAATCTCAGAATACTGTGTGTCTCTCCTGTTGAAGACAGTCAATCATCTGGCTCACGCTCTGCATATGAACAGGAACCAGGACTCAGGCTGTCTGGTTCGAGTGTTTTGGCCTAAAACCAAGTGTGTCCTGCTGAGAGATGACCTGGTCTTGATGGACAGGTA[T/A]GAACACCTTCACGCACGAGTCGCACGACTTTAGGGCTGTCAAAGCTGAACTTATTTCAATTGTAACAACTACTCTTTTTTTTGAAGCTACATTAAAGAAATTGAGAGACCACAAAACAACTTTCAGAGATTCATGTGTATTTAGAATAAATGTATATGACAACAGGTATGAATAATTATTGTTATACACTGGGGATATGAAATGATCAGCAGTCAACTCATTAATGATCACTTTTCGACAGAAATAAACATTTGATAAGTGTCTTTCTCATTGAATCCAGTATTTATAGCAAGCAAAAAAGATACCATCAGTCCTTAAGTGGATCACATGAAAGATCAATTTCAGCAAACAGTTCATCAATGGTTGACCACGGAATCAGTAGGAAAGTGGATGGAAAAAGTCTGCGGATATGAGGATGGATTGTCCAGGTCCTGTTTTGATGACTTAAAGTGTATACCAAAAACCCTATCTGAGGTATAAGAACAAAAAGGTTCCTCAAA
Associated Phenotype:
Not determined