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
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.
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