Busch Lab

ZMP

dysf

Ensembl ID:
ENSDARG00000007370
ZFIN ID:
ZDB-GENE-070501-1
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
sa40888 Nonsense Mutation detected in F1 DNA Not yet available
sa30886 Nonsense Mutation detected in F1 DNA Not yet available
sa40887 Nonsense Mutation detected in F1 DNA Not yet available
sa20934 Essential Splice Site Available for shipment Available now
sa11331 Nonsense Available for shipment Available now
sa17832 Nonsense Available for shipment Available now
sa26952 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa40888
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
ENSDART00000082620 Nonsense 82 1193 4 31
ENSDART00000131987 None None 1847 None 48
ENSDART00000135018 Nonsense 158 319 6 10
ENSDART00000135415 None None 1847 None 48
ENSDART00000142754 Nonsense 156 317 6 10
ENSDART00000082620 Nonsense 82 1193 4 31
ENSDART00000131987 None None 1847 None 48
ENSDART00000135018 Nonsense 158 319 6 10
ENSDART00000135415 None None 1847 None 48
ENSDART00000142754 Nonsense 156 317 6 10
Genomic Location (Zv9):
Chromosome 7 (position 26841844)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 25403590
GRCz11 7 25674747
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTTGTGCAATGTGATTTATCTTACTTGTGTATATGTGCAGTTTTCTCAT[T/A]GGACACTATGGGCGAGGATGACACTGAGAGCATGCTGATGATGGAGGTGG
Long Flanking Sequence:
TACTCGAGCCTATACAATGGTTAATATAATTCTAGAGGGAATTTGATGACAAATGCCTGATTGTACCAGTAAAAAAAGGTTGTAATAATAATGTTGTCAGTGCCAGATTGTAAGCATATGTCTCAAACATATTAATTCAACTTTAGATTTATGAATAGTAATATTCCGATGTAATCACTTTACTGTGCATTAACAGCCAGAACAGCCAGGATATAAGGTCTATACAAAATTTATCATTCAAACCAACAGTAGACCTACACATAGACCTAATGATATTGATGTTGTTTTACTATATGTTTGAGAATAACAATAATAGTAGCCTACTCGTATTAACCTTTATTTTACATCTAAAGAATCATAAGGAAATTGTGATCTTGATTTTAAGCAAAAAAAAAAAAAAAACATTATTCTCATTTTTGACAGAATCGTGCAGCTCTAGTATGACATCACATTTGTGCAATGTGATTTATCTTACTTGTGTATATGTGCAGTTTTCTCAT[T/A]GGACACTATGGGCGAGGATGACACTGAGAGCATGCTGATGATGGAGGTGGCGGAGGAGCCTGAACCTGTTCCAGGACCCCAGGGGCAGGACATCGGCGCCCCTACAGCACCACCCAAAAAGGCTCCACCCAACTTTAACCAGGGACTAAAGAAAAAGAAACGCCAAAGCAACAAATCCCCCCTGTCCGACAAAGCCCAGGACCTCCAGGTTTGTTTTTATGTACATGTATAAATCTTAGTATGAATCCACAATTTGCTTTGTCTTGAATATATTTCTGTAGACGCCTGGAAATATTCCTCTTTTTTTATCAAATAACAATGTTTTGTGTCTGTGTGGCTCAACCAAATGCTGTCATGACTTATGTATACATCTAAACATTGCAATATGGTTTCATATTGCTTGTTTTAGACTTGGCTCTCTGCTTAAAGGAATCACATGATAAATACTGTCTATTCCAGTAGTTTAAAGGGATAGTTCACACAGAAATGAAAATTCTCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30886
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
ENSDART00000082620 Nonsense 82 1193 4 31
ENSDART00000131987 None None 1847 None 48
ENSDART00000135018 Nonsense 158 319 6 10
ENSDART00000135415 None None 1847 None 48
ENSDART00000142754 Nonsense 156 317 6 10
ENSDART00000082620 Nonsense 82 1193 4 31
ENSDART00000131987 None None 1847 None 48
ENSDART00000135018 Nonsense 158 319 6 10
ENSDART00000135415 None None 1847 None 48
ENSDART00000142754 Nonsense 156 317 6 10
Genomic Location (Zv9):
Chromosome 7 (position 26841844)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 25403590
GRCz11 7 25674747
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTTGTGCAATGTGATTTATCTTACTTGTGTATATGTGCAGTTTTCTCAT[T/A]GGACACTATGGGCGAGGATGACACTGAGAGCATGCTGATGATGGAGGTGG
Long Flanking Sequence:
TACTCGAGCCTATACAATGGTTAATATAATTCTAGAGGGAATTTGATGACAAATGCCTGATTGTACCAGTAAAAAAAGGTTGTAATAATAATGTTGTCAGTGCCAGATTGTAAGCATATGTCTCAAACATATTAATTCAACTTTAGATTTATGAATAGTAATATTCCGATGTAATCACTTTACTGTGCATTAACAGCCAGAACAGCCAGGATATAAGGTCTATACAAAATTTATCATTCAAACCAACAGTAGACCTACACATAGACCTAATGATATTGATGTTGTTTTACTATATGTTTGAGAATAACAATAATAGTAGCCTACTCGTATTAACCTTTATTTTACATCTAAAGAATCATAAGGAAATTGTGATCTTGATTTTAAGCAAAAAAAAAAAAAAAACATTATTCTCATTTTTGACAGAATCGTGCAGCTCTAGTATGACATCACATTTGTGCAATGTGATTTATCTTACTTGTGTATATGTGCAGTTTTCTCAT[T/A]GGACACTATGGGCGAGGATGACACTGAGAGCATGCTGATGATGGAGGTGGCGGAGGAGCCTGAACCTGTTCCAGGACCCCAGGGGCAGGACATCGGCGCCCCTACAGCACCACCCAAAAAGGCTCCACCCAACTTTAACCAGGGACTAAAGAAAAAGAAACGCCAAAGCAACAAATCCCCCCTGTCCGACAAAGCCCAGGACCTCCAGGTTTGTTTTTATGTACATGTATAAATCTTAGTATGAATCCACAATTTGCTTTGTCTTGAATATATTTCTGTAGACGCCTGGAAATATTCCTCTTTTTTTATCAAATAACAATGTTTTGTGTCTGTGTGGCTCAACCAAATGCTGTCATGACTTATGTATACATCTAAACATTGCAATATGGTTTCATATTGCTTGTTTTAGACTTGGCTCTCTGCTTAAAGGAATCACATGATAAATACTGTCTATTCCAGTAGTTTAAAGGGATAGTTCACACAGAAATGAAAATTCTCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40887
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082620 Nonsense 111 1193 4 31
ENSDART00000131987 None None 1847 None 48
ENSDART00000135018 Nonsense 187 319 6 10
ENSDART00000135415 None None 1847 None 48
ENSDART00000142754 Nonsense 185 317 6 10
Genomic Location (Zv9):
Chromosome 7 (position 26841758)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 25403504
GRCz11 7 25674661
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGATGATGGAGGTGGCGGAGGAGCCTGAACCTGTTCCAGGACCCCAGGGG[C/T]AGGACATCGGCGCCCCTACAGCACCACCCAAAAAGGCTCCACCCAACTTT
Long Flanking Sequence:
AATAATGTTGTCAGTGCCAGATTGTAAGCATATGTCTCAAACATATTAATTCAACTTTAGATTTATGAATAGTAATATTCCGATGTAATCACTTTACTGTGCATTAACAGCCAGAACAGCCAGGATATAAGGTCTATACAAAATTTATCATTCAAACCAACAGTAGACCTACACATAGACCTAATGATATTGATGTTGTTTTACTATATGTTTGAGAATAACAATAATAGTAGCCTACTCGTATTAACCTTTATTTTACATCTAAAGAATCATAAGGAAATTGTGATCTTGATTTTAAGCAAAAAAAAAAAAAAAACATTATTCTCATTTTTGACAGAATCGTGCAGCTCTAGTATGACATCACATTTGTGCAATGTGATTTATCTTACTTGTGTATATGTGCAGTTTTCTCATTGGACACTATGGGCGAGGATGACACTGAGAGCATGCTGATGATGGAGGTGGCGGAGGAGCCTGAACCTGTTCCAGGACCCCAGGGG[C/T]AGGACATCGGCGCCCCTACAGCACCACCCAAAAAGGCTCCACCCAACTTTAACCAGGGACTAAAGAAAAAGAAACGCCAAAGCAACAAATCCCCCCTGTCCGACAAAGCCCAGGACCTCCAGGTTTGTTTTTATGTACATGTATAAATCTTAGTATGAATCCACAATTTGCTTTGTCTTGAATATATTTCTGTAGACGCCTGGAAATATTCCTCTTTTTTTATCAAATAACAATGTTTTGTGTCTGTGTGGCTCAACCAAATGCTGTCATGACTTATGTATACATCTAAACATTGCAATATGGTTTCATATTGCTTGTTTTAGACTTGGCTCTCTGCTTAAAGGAATCACATGATAAATACTGTCTATTCCAGTAGTTTAAAGGGATAGTTCACACAGAAATGAAAATTCTCTCATTATTCATTCAATCTCAACCTATTTAAGTTTATTTCTACTGTTGAACACAAAAGAATATGTTTTGAACAAGCAGACAGTAAGGTA
Associated Phenotype:
Not determined

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.
Availability:
Order Allele From ZIRC
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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

Mutation Details

Allele Name:
sa26952
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082620 None None 1193 None 31
ENSDART00000131987 Nonsense 1153 1847 32 48
ENSDART00000135018 None None 319 None 10
ENSDART00000135415 Nonsense 1153 1847 32 48
ENSDART00000142754 None None 317 None 10
Genomic Location (Zv9):
Chromosome 7 (position 26785252)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 25346998
GRCz11 7 25618155
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCCTTGCGTCACTCTTTTTTTATTGTTCACATTTCTGCACTCTCTTCAG[C/T]GATTGCCTAAGGAAGAGCTCTACATGCCCCCATTGGTGATCAAGGTTATA
Long Flanking Sequence:
CGGTTGACCTTTGGCTAAGCCCTGTTCAGAAGTTTCTTTGTGAAGATATAAAATGTGTTGTTACAGCATGCCGCTAACCAGTTGTGACAGACTTATATACAATGTGGTCATGGTGTCCTTCGCTTGGTGGATGTTTCATGAGTGATGACTGGCACAGTTAACAATGTTCCCCAGCAATGAGCGTCAGTTCTTAATTCTAAAGCGTAAGATAGTCTGGATTCGGTTCCAGTACTCATCTACGACTGGGAGGCATTGCGTGGAAAGAATGCTGAAAGACTGGGAAAGTTATTTGCACTGTCAGTCCTGGTCAGTCCTGTGTCATGTTTGCCTCAGTTTAGGGTGTGAAATACTTTCACAAAGGACGAAAGGAAGGGAAAAGGAAGGTTCTTTGGAATTACAACTGAAGTGAAGAAGTAAACATGTCATTTTGTTGCAAGTTAAAAGTTTGAAAGCCTTGCGTCACTCTTTTTTTATTGTTCACATTTCTGCACTCTCTTCAG[C/T]GATTGCCTAAGGAAGAGCTCTACATGCCCCCATTGGTGATCAAGGTTATAGACAACCGGCAGTTTGGCAGGAAGCCTGTGGTGGGCCAGTGTTCAGTCCACTCGCTCAATGAGTTCTACTTCCAGCCGGAAAGTCTGGAGAGAGACTCAACAGAAGAGGAATTTGGTAAGGAGAAAATAAGGAAATTGTATTGTTCTTAACTGCACATCTGGAAACTTTTGAAATACTGTAAACACAACTAATACATTCAGAGATGTGTGTATTCTGTATAGAAGGGCTTCACATTAACACCTGCCAAATGTGGGTGAATTTCAGCCAACCTGTCCTCTAACCTGAATCTGACTTACAAAATAATTTGAGCAGTGATGATTTTGTTCTCCACTTCCTTCAAAAAAAGAAAGAGTAAATATTGTGTTCTTCCAATCCATTTCATGGAGAGGAAGTAGAGTTCACCTCCCTATCAAAAAGCTGTGTGAGATTATCCAGAAATTCAATTTTCA
Associated Phenotype:
Not determined