ZMP
dysf
Ensembl ID:
ZFIN ID:
Human Orthologue:
DYSF
Human Description:
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [Source:HGNC Symbol;Acc:3097]
Mouse Orthologue:
Dysf
Mouse Description:
dysferlin Gene [Source:MGI Symbol;Acc:MGI:1349385]
Alleles
There are 13 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa20934 | Essential Splice Site | Available for shipment | Available now |
sa11331 | Nonsense | Available for shipment | Available now |
sa17832 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20934
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000082620 | Essential Splice Site | 851 | 1193 | 23 | 31 |
ENSDART00000131987 | Essential Splice Site | 700 | 1847 | 19 | 48 |
ENSDART00000135018 | None | None | 319 | None | 10 |
ENSDART00000135415 | Essential Splice Site | 700 | 1847 | 19 | 48 |
ENSDART00000142754 | None | None | 317 | None | 10 |
Genomic Location (Zv9):
Chromosome 7 (position 26823450)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 25385196 |
GRCz11 | 7 | 25656353 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTCAGGCTGGAGCTGGGCAGGAGAATGGTTCATCAGCCCAGAGAAAAC[G/T]TGAGTACCATCTTATCTTTAGAAGGGACATATGCATCATTAAACACCCTC
Long Flanking Sequence:
AATTGCACAGCCCTCCACTCATACTACTCACATCCATACTATATAGAACGGACTTTTCTAACAGTCGTGTAGTAAATTCAATTTCAAATATAGTACTAGTTGAGTAGTGTTCAGTTTTGAATTCAGCATAGAACAGCTAGTTTAGTTGGATCAGCTGTGTGTGATTAGGGTTAGTACAAAACTTTGCAGAGCTATAGCCAGGAATTCAGTTTGAGACCTATATATTAAGTCATCCTAAAAAAAATCTCACTAATATTTTATATTATGTTTGCATCAATATTGCACACTTATGTTAAAGCTATCCTTTTGAGCAAGATTTATTGTCGTTTACAGTATGAGAACCAGACTAAACTGGCTCTGGTGGGGAACTGGGGTACGACGGGTCTGACTTACCCCAAGTTCAGTGATGTGACCGGCAGAGTCAAACTGCCAAAGGAGAGCTTCAAACCCTCTTCAGGCTGGAGCTGGGCAGGAGAATGGTTCATCAGCCCAGAGAAAAC[G/T]TGAGTACCATCTTATCTTTAGAAGGGACATATGCATCATTAAACACCCTCTGTAACTGCATAACATGAGTTCTCCTCTGTGCGCAGGATGCTGTATGATGCTGATGCAGGTCATATAAGCTTTTTGGAGGAGGTGTTTGAAAATCAGTTGCGGTTGCCAGGAGGACAGTGGATTGGCATGCCGGAGGGGTACACAGATGTGGTCAGTGTGTATTTCAATCATAATTTACTGATGAATCTTCAGTTCTTATGGTTATTAGGTTATTATTTTCATGAGGTGTCGAGGAATAGTAAGTCAAAGGGTATTTTACTTGAAAAAAACAAAAAAACAAATCTGTTTATGTCTCCACTGGGGGGCAGAATGGAGAAAAAGCTGTTCCTAAAGATGAGATCGAGTGTCCCCCTGGCTGGGTGTGGGAGGATATTGAGTGGAGTGAGGATCTGAAGCGTGCAGTGGATGATCAAGGTATGGAAACTGTATCCCATACACGTGAACAACTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11331
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 |
---|---|---|---|---|---|
ENSDART00000082620 | Nonsense | 924 | 1193 | 25 | 31 |
ENSDART00000131987 | Nonsense | 773 | 1847 | 21 | 48 |
ENSDART00000135018 | None | None | 319 | None | 10 |
ENSDART00000135415 | Nonsense | 773 | 1847 | 21 | 48 |
ENSDART00000142754 | None | None | 317 | None | 10 |
Genomic Location (Zv9):
Chromosome 7 (position 26822988)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 25384734 |
GRCz11 | 7 | 25655891 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTGGGAGGATATTGAGTGGAGYGAGGATCTGAAGCGTGCAGTGGATGAT[C/T]AAGGTATGGAAAYTKTATCCCATACASGTGAACAACTGACGTTTTGCAGA
Long Flanking Sequence:
AGCTGGGCAGGAGAATGGTTCATCAGCCCAGAGAAAACGTGAGTACCATCTTATCTTTAGAAGGGACATATGCATCATTAAACACCCTCTGTAACTGCATAACATGAGTTCTCCTCTGTGCGCAGGATGCTGTATGATGCTGATGCAGGTCATATAAGCTTTTTGGAGGAGGTGTTTGAAAATCAGTTGCGGTTGCCAGGAGGACAGTGGATTGGCATGCCGGAGGGGTACACAGATGTGGTCAGTGTGTATTTCAATCATAATTTACTGATGAATCTTCAGTTCTTATGGTTATTAGGTTATTATTTTCATGAGGTGTCGAGGAATAGTAAGTCAAAGGGTATTTTACTTGAAAAAAACAAAAAAACAAATCTGTTTATGTCTCCACTGGGGGGCAGAATGGAGAAAAAGCTGTTCCTAAAGATGAGATCGAGTGTCCCCCTGGCTGGGTGTGGGAGGATATTGAGTGGAGTGAGGATCTGAAGCGTGCAGTGGATGAT[C/T]AAGGTATGGAAACTGTATCCCATACACGTGAACAACTGACGTTTTGCAGATCTTTTCTATATACAAAATAATGAAAAGCAGAAGAAACGTGAACCATAATAAATCTCCATTTACCTATAGGGTGGGAATATGGAATAACCCTTCCCCCGGACCGCCGACCAAAGTCCTGGGTTCCATCTGAGAAGATGTACCATACCAACCGTCGGAGACGCTGGATCAGACTCCGCCGTAGAGACATGCAGAAAATGGAGGCGCTCAGAAAAGTATGTCATCATCAATCATTAGCAAAGTGTTGCCACTTGGTTTGTTTTCAATTTGAGCTGCATGTTTCATGGCCAGATTTACTAATGACTTGCACCAGCAGCACAAAACCTCATTTGGGGTTACATGTACTAAAGATATGCAGAGAAAACTTTGCATTGAAAAAGGGTAGATGGTGAAATTTGCAGCTGGCCCTTAACAATTGCATATGAATTTTGTTAACGCCAAGGATTGATAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17832
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 |
---|---|---|---|---|---|
ENSDART00000082620 | Nonsense | 1011 | 1193 | 27 | 31 |
ENSDART00000131987 | Nonsense | 860 | 1847 | 23 | 48 |
ENSDART00000135018 | None | None | 319 | None | 10 |
ENSDART00000135415 | Nonsense | 860 | 1847 | 23 | 48 |
ENSDART00000142754 | None | None | 317 | None | 10 |
Genomic Location (Zv9):
Chromosome 7 (position 26816334)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 25378080 |
GRCz11 | 7 | 25649237 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACCTCAAGCAGAAGAAAACCGACTTGTTCCGTCGCCGGCGCTGGAGACGT[C/T]GAATGGAGCCATTAGAAAAGACRGGGCCGGCGGCCATCYTTGCCTTGGAG
Long Flanking Sequence:
CATTACTGTACTTTATTAAAAACAAATAAGACTAATAAGATGCAAAGGCAAATGCCTATTTCCATATACAAATAAAATACAGCTCTAAAAACTACTTAGGGTGACTAGAAGTAGGGTATCAGACGTCCTCATGGTGGCACTCTTCGAGCACAGATTCAGAAACATTTCTCATGTGGTACTCTGTCTTTTTACTGTATTAGATAACTTTAATTCCTCACTAATCCTTTCCTCATGATTCTTAAGGTCCCAATGTCTGCTATATGTCTTTTTTTGTGCACCTCTGGTTAGGCTCATACCAGAACATGTATATAAAAAAATCCTTTGAAAATAAACAAGTTGAGTTATATAAATGTGTCTTAATTCTGTGTGTGCTTTCTCTCCTAAAGCAGCGGCCAGACGAGTCCGAGCGTGAGGGCTGGGAATATGCCTCTTTATTTGGCTGGAAGTTTCACCTCAAGCAGAAGAAAACCGACTTGTTCCGTCGCCGGCGCTGGAGACGT[C/T]GAATGGAGCCATTAGAAAAGACGGGGCCGGCGGCCATCTTTGCCTTGGAGTGTTCGCTGGTAATGAGGGCTGACTATTTGAGTGATGTGGAGCTGGAATTGGGGTGAGATTTAGACAGAGAGACTGGAAAGGAAAGTGGTGGGAGAGAATCAAACAAGGGTGAGATGCTATTTAGACGAAGCAAAGGCGAGAATGGGTGTGGAGGGCTTTGAGTTTGGACAAATCGGAGGTGCTGAGAGAGACTGGGCAAGAAACGTGGAATCAGCCTGGTAAAATAAGGGCATCGTGGGATATCATTTACAGGGAGACAGTGATGGAACAGTGAGTGTGAAAGACAGCGTATGCATAAAGCCTTGTTAGTATGCTTATTCTCTTACGCATAGTCTGGTCCTCTGGGTGCATTGTTACAGATCTATTCCAGGCTGCTTTGGCATGAGATGTCATGTGGTCTTGGCTGGGTTGATAATTGAGAGTTGATGAGAGTCTGGAATAGATCCATG
Associated Phenotype:
Not determined