ZMP
DNM2 (2 of 2)
Ensembl ID:
Description:
dynamin 2 [Source:HGNC Symbol;Acc:2974]
Human Orthologue:
DNM2
Human Description:
dynamin 2 [Source:HGNC Symbol;Acc:2974]
Mouse Orthologue:
Dnm2
Mouse Description:
dynamin 2 Gene [Source:MGI Symbol;Acc:MGI:109547]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa19634 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa7417 | Missense | Mutation detected in F1 DNA | Not yet available |
sa38304 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa19634
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 |
---|---|---|---|---|---|
ENSDART00000100171 | Nonsense | 25 | 876 | 1 | 26 |
Genomic Location (Zv9):
Chromosome 1 (position 59722626)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 58183161 |
GRCz11 | 1 | 58880164 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTTGATTCCCCTCATTAACAAGCTGCAGGACGCCTTCAGCTCCATCGGC[C/T]AGAGCTGCAACTTGGAGCTGCCGCAGATCGCGGTGGTCGGCGGGCAGAGC
Long Flanking Sequence:
TTTCAAAATGGTCTTTAGGATATTATGTGCATTATATTATATACATACCTGTTGATTTATGAGCAAAATACTTCATATTAACTCAATGTAACGCTGTCTAGCCGCAACTGTTATCTCTTCACCAAAGAGTAACGGAAAACTGTTCAAACTAACCCCACCTGTGCTTCATGACCACCCTCTGTCTACCAATAAGCTCTCGATGTTACTGACGGACATCAGCGATAGCCAATAGAAACGCGCGGATTGCATCCCAAGGGCGTTTCTTCAAAAGTTTATGGTGGTCTGCTGACCGGATATGAAAAGTTTCTCGCAGACAGTTTTCTGTGTTTCTGACAGCTGGAGTTCGTGTTTGTTTTCGTCCAGTCAAGCGAAGGCGGGTGATGAAGTGAGTTTCTCTGAGCTCCGAGGGTCTGATAAAGCTCGTCATCATGGGGAACCGCGGGATGGAGGACTTGATTCCCCTCATTAACAAGCTGCAGGACGCCTTCAGCTCCATCGGC[C/T]AGAGCTGCAACTTGGAGCTGCCGCAGATCGCGGTGGTCGGCGGGCAGAGCGCCGGTAAAAGCTCCGTGCTCGAGAACTTCGTGGGAAGGTAAAAGTCTTTACACTATTTAAATGTGGCTTTTTAAAATATGACATACGAACGTTTCGGTTGTTTTATTCTGTTATTATTTTGTTTATGTTACGGTGTTGTATTGAAATCTGACTCCTTCCCTGAAAAAAAGTTCTGATGGAGCTACAATCAAATAATTTAGCAAAATTACTAACTTATATAGAGCAAGATATGACATCAACATAAATTTGGTTTATATGTGACCTTATATGTGACCTTTTTAAACCTGTGTTTGTAGGGAGAGTAAATGTAATTTAATTTAAACCATTTTTGAGACTTAATTTAAACCATTCATAAGACCATTCATGAGACTTGTGTACTGTAATGTTTTTGTATAAGAAATTTGCTTAGAATGTTAGTTAGTTAGTTAGTTATTGTCTTGGTGGCCTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7417
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:
T > A
Consequence:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000100171 | Missense | 86 | 876 | 3 | 26 |
Genomic Location (Zv9):
Chromosome 1 (position 59714364)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 58174899 |
GRCz11 | 1 | 58871902 |
KASP Assay ID:
554-4294.1 (used for ordering genotyping assays)
KASP Sequence:
CTATTGTAAACGTGTGTGTGTGTGTGTGTGTGWAGAATATGCMGAGTTCC[T/A]GCACTGTAAGGGCCGCAAGTTTGYGGACTTTGAYGAGGTTCGGATGGAGA
Long Flanking Sequence:
ATATATGTAAATACAAACTTTTATATTGGTTTTCACCTCATAGTTTCGTTTTGTTATTTGTTTGTTGTTTTCGGTTGTCTTGGGCTGTGTGTAAATGCAGTAATAATATGGTAAAGCCACAGTATCTTACACAACTTAAGAAACTGACTCAATGGGAATTTGCTGAACAGATATGCTTTGAGTTGCAAAATATAGTCGGTTCTGACCTTTTATTATTTAAACTGCAAGGCAAAAAGCTTGTTTTGAAGACTCTGAATGCATTATGAGAATTAATTGAGTGATTGAAAATACATAATGCATGATGTGTGTGTGTGTGTGTGTGTTTTTCAGGGATTTTCTGCCGAGAGGATCAGGAATCGTCACTCGCAGGCCTCTGATTCTCCAGCTGGTGAACAGTAAAGCTGGTAAATCCACAAAACATTTGATCAAAACCACAGTGTAGTGTATGAGCTATTGTAAACGTGTGTGTGTGTGTGTGTGTGTAGAATATGCCGAGTTCC[T/A]GCACTGTAAGGGCCGCAAGTTTGTGGACTTTGACGAGGTTCGGATGGAGATTGAAGCAGAAACGGACCGAATCACTGGATCTAACAAGGGAATCTCTGCAGTGCCCATTAACCTGCGCGTTTACTCGCCCAACGGTAATAACACACTTTAAGCTGTGTCTGAAATTGCTTATTATTCACCGTTAATCAATGTGAGCTAACGACACCAATATGGCTAGTTTTGATTTCATGTGGACTTTAGTGAGACGTGCAGACGTTCTAGTTTTGGATAAAGTGCCATTGATTTGTTTTTAACACTATTTTAATGGTGTTTTTCTCTCTTCAGTGCTGAATCTGACGCTGATCGATCTTCCGGGCATGACGAAGGTGGCGGTGGGTGACCAGCCGCAGGATATCGAGTACCAGATCCGGTGAGAGCAGTGGGGTTGAAGCTAAAGTGCTGAACTAATGGCAAACTCCTCCTTCAGAGACGAGACCTTGATCATTGTTTACGTTATATAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38304
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000100171 | Essential Splice Site | 383 | 876 | 10 | 26 |
Genomic Location (Zv9):
Chromosome 1 (position 59708517)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 1 | 58169052 |
GRCz11 | 1 | 58866055 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGAATAAACCGCATCTTCCACGAGCGCTTCCCCTTCGAGCTGGTGAAG[G/A]TGCGCTAACACCGAGCTCTAAATCATCATAAGCTGAAAACGATGATTTAT
Long Flanking Sequence:
CATTCTACAGCTTGATTTTCTTTCTCTGAAAGCATCTGAGAGTCTCCTCGGTTGTGTTTTGGATCATGTCTTGCTGAAATGGTTTGATCTTCATCCTCCTGCTGATGTAGATGTTGGACTGAAGCAGTTGAGGAAGGGCAGAGGGTTGCTGAAGAACTACTGAGAGATTTCAGCTGCTGTCTGGGCTTTCACTGCCCAACTACACCTCCCTTTCTTCATGTGTTCAATACTGTTTCCCTGCGTCATTTCTTTTTCCAAATTTCCAAGTCAACAGCACCTTTAGGAATATGTTTCCTGAGAAAAAGGGCGACGTGTTCAACACTTATGTCCCCAGCTGTATATAAATATACCTGTGTGTGTTCAGGATGGTCCAGCAGTTCGGTGTGGACTTTGAGAAGCGTATCGAGGGCTCTGGAGATCAGGTGGACACTCTGGAACTCTCCGGCGGAGCTCGAATAAACCGCATCTTCCACGAGCGCTTCCCCTTCGAGCTGGTGAAG[G/A]TGCGCTAACACCGAGCTCTAAATCATCATAAGCTGAAAACGATGATTTATTGTTGCTAATTATTATTTTATTTCATTCAGTTTTTCATTTATTGTGAGTTTTTAATTTTATTTCGGTTAACAAAATGTTTTTAGACCAATAGCTTTAGTTTTTGTTAAAGCAGTGATCACCTAACGTGTTCCTGGAGGGCCGGTGTCCTGCAGATTTGAGCTCCAGCCCTGATCAAACACACCTGAACAAGCTTATCAAGGTCTTACTAGGTATACTTGAAACACCCAGACAGGTGTGTTGAGGCAAGTTGGAGCTAAACACTGCTGGGACACCGACCCTCCAGGACCGAGATTGGTGACCCCTGGTTTAAAGTAACTTCTGTATATGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
Associated Phenotype:
Not determined