Busch Lab

ZMP

dmd

Ensembl ID:
ENSDARG00000008487
ZFIN ID:
ZDB-GENE-010426-1
Description:
dystrophin [Source:RefSeq peptide;Acc:NP_571860]
Human Orthologue:
DMD
Human Description:
dystrophin [Source:HGNC Symbol;Acc:2928]
Mouse Orthologue:
Dmd
Mouse Description:
dystrophin, muscular dystrophy Gene [Source:MGI Symbol;Acc:MGI:94909]

Alleles

There are 23 alleles of this gene:

Allele Name Consequence Status Availability
sa31194 Nonsense Available for shipment Available now
sa32610 Nonsense Available for shipment Available now
sa12459 Nonsense Available for shipment Available now
sa16997 Nonsense Available for shipment Available now
sa19441 Nonsense Available for shipment Available now
sa11033 Nonsense Available for shipment Available now
sa19440 Nonsense Available for shipment Available now
sa19439 Nonsense Available for shipment Available now
sa13095 Essential Splice Site Available for shipment Available now
sa19438 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa31194
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007013 None None 1096 None 26
ENSDART00000009886 None None 594 None 17
ENSDART00000102903 Nonsense 160 3633 6 78
ENSDART00000126518 None None 362 None 11
ENSDART00000141052 None None 206 None 6
ENSDART00000148305 None None 149 None 4

The following transcripts of ENSDARG00000008487 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 10204856)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 10337194
GRCz11 1 11021305
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCATGGCGGACTTACAGCAGACCAACAGCGAAAAGATCCTGTTAAGCT[G/A]GGTCAGGCAGTCCCTCAAAAACTACCAAGACGTCAACGTGGTCAACTTCT
Long Flanking Sequence:
ACATAAGGATACATCTCTTGATTCTTGAAACTTATCCTGTTCATCAATATCAGGTCATGTTGTACTTTTCACCTTTCTGATAAACATGCATATACAGTTGAAGTTAAAGGCTTAACTAGGTTAATTATGCAAGTTAGGGTAATTATGCAAGTTATTGTATGTTCTGTAGACAATCTAAAACAAATATTCTTTAAGGGGGCTAATAATATTGACCTTAAAATGATTTTAAAAAATGAAAAACTGCTTTTATTCTAGCCGAAATAAAACAACAAGCACTTACTCTAGAAGAAAAAATATTGTAGGAATTACTGTGAGAATTTCCTTGCTCTGTTAAACATCATTTGGGAAATATTTTAAAAAGAATAAAAACTTCACACGAAGGCTAATCATTTGGATTTCAACTGTATGTGCATCCTCTCCTTGGCCACAGGTTAAGGATGTGATGAAAGATGTCATGGCGGACTTACAGCAGACCAACAGCGAAAAGATCCTGTTAAGCT[G/A]GGTCAGGCAGTCCCTCAAAAACTACCAAGACGTCAACGTGGTCAACTTCTCCAGCAGCTGGGCCGACGGTTTCGCTTTCAACGCTCTCATCCACAGCCACAGGTGCTTTCGCTTTCATTGAAAATCTGTTCTTTCGCCACTGATGAAACTCCAAATGAATGTTTTTATTCATTGGTCATAAACTGCATGGGTGATCACTGGCCTAAAGCAGTATTTGAAGCCGAGTGTATGAGTTATTGTTTTTCCATTTTTCCCTGTTGTTCATTTGGGTAATGAGCCAGCTGTGTTTCGATCTGCTTTTAGCTATTTCAAGCTCTGAAAATAATTTAAGTTATTAACTATCCTATAGTAATTATGTCTTTTTCTGGTTCTTTGGCAGGCCGGAGCTGTTCAGCTGGAGTGTAGTGGAGCAACAGGATAATGCCATTGAGAGACTGGATCATGCCTTCGGTGTTGCGGAGAAGAGTTTAGGAATCGACCGGCTGCTGGACCCCGAGGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32610
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007013 None None 1096 None 26
ENSDART00000009886 None None 594 None 17
ENSDART00000102903 Nonsense 288 3633 8 78
ENSDART00000126518 None None 362 None 11
ENSDART00000141052 None None 206 None 6
ENSDART00000148305 None None 149 None 4

The following transcripts of ENSDARG00000008487 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 10200507)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 10332845
GRCz11 1 11016956
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCCTCGAGCCGCAGTGACCAAGGAGGAGCACGTCCTCTATCAAACCCAA[C/T]AGCGGTACTCTCAGCAGGTCAGACAAACACACACTCATAGATAAACACGG
Long Flanking Sequence:
CGAACCTCTTGAATGTAATTCTTGTATTGCATTGGGGTAATGTAACCCAGAGCTCTGTCATCGAATTATTCATTTGTATCCAATAAATTGTTACGATTTTTGACATTGAAGAAAAACCTCTCCAGACCTTTTCTCTTGAACACGCATGGAATTGGTTAATATTCCAACAATATACAGATTTGAACAGCAGTATCCATACACTTTATTTACACAGATTCTTTTAGATGTAAAGCAATTGGTTGTCCTCTAGTTCTCACTTGAATCTAATTTCAAAAAGACCCTAATAATCTCTCCCGTGTTTGCCATGCAATTAAGTCATTTCTTGTTTCCTTTTGGCAGATGTTGCTACAGTCCATCCAGATAAGAAATCCATCATCATGTACGTCACCTCCCTCTTCAAAGTGCTGCCCCATGGCGTGAGTTTGGAGGCCATCCAAGAGGTGGAGACCCTCCCTCGAGCCGCAGTGACCAAGGAGGAGCACGTCCTCTATCAAACCCAA[C/T]AGCGGTACTCTCAGCAGGTCAGACAAACACACACTCATAGATAAACACGGTGTGTGTGTGTGTGTGTGTGTGTAGCAATCATAATGCATTGGAGCCATTATCTCTGGCGCCACATACATCTACTATGAAAGCTTCTCCGGTTTCCAAAAGGCTTTCTGACGTTCTCAGGATGCACCTCTAGCTTGTCAACACACTTTGCCGGCCGACATTGAATTACGTTTTGTAATTTGTGATCTAATTTTGCCTCCCTGCATTCCAACGTCCTCATCGTCCTTCTCACTGCCATCTCCAGCTCATCGCTCCATCGCTCAGCTCTCCTCAATATTTCACTTCATCCATCTCTTTTGTTTCTCTTTTCTTCAGCGTTTGTCTTTTGCATCTGTTTTAGATCACAGTCAGCGTGGCCCAGAGTCGCGTTCGCAGCCCGTCGCCCTCCTATAAGCCGAGATTTAAAAGCTATGCCTTCACTCAAGCCGCCTACGTCAAGACACCTGAACAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12459
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007013 None None 1096 None 26
ENSDART00000009886 None None 594 None 17
ENSDART00000102903 Nonsense 548 3633 13 78
ENSDART00000126518 None None 362 None 11
ENSDART00000141052 None None 206 None 6
ENSDART00000148305 None None 149 None 4

The following transcripts of ENSDARG00000008487 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 10184899)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 10317237
GRCz11 1 11001348
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATGGTGGTGGTTRTAGATGAGAATAGYGGGGATGGCGCCACCGCAGCCT[T/A]GGAGGAAAAGCTGCAGGTACGTTTTATTTTTATTTTGTAATGTTAATAGA
Long Flanking Sequence:
AGAGGGAGGTGCGGGAACAGATGAATCTGCTCAACTCGCGCTGGGAACATCTGCGTGTGGCCAGTATGGAGCGACAGAGCAGGTGGTCACACGTTAGCATGACGCGCCTCTGTTTACCCACAAATATTGATCGCTCATATGCCTGATGTTGTGCTCAAACATTCCCAGGCTTCATGAAGTTTTGATGGACCTTCAGCACCAGCAGCTGAAGCAGCTCTCTGATTGGCTGGACACGACGGAGACTCGGATTAAAAGGATGGGAGCGCAGGCTTTGGGGCCTGAACTTGATGACATAAAGCGGCAAATCGAAGAGCAGAAAGTAAGTTCTGTCATTTTTTGGGTTGTTTATTAATGAGTAAACAAACTAATTAGGACATAATTGTTTGGTGTTTAAAAGCTCTTACAGGAAGATCTGGAGCTGGAACAAGTGCGAGTGAATTCGCTGACTCATATGGTGGTGGTTGTAGATGAGAATAGTGGGGATGGCGCCACCGCAGCCT[T/A]GGAGGAAAAGCTGCAGGTACGTTTTATTTTTATTTTGTAATGTTAATAGAAAAATCCACTTTTTTTGGAAATAGGGTGTTGACGGCTTGGTGGCTCAATGGTTAGCACTGTCGCCTCACAGCAAGATGGTCAATGATTTAAGTCCCAGTTGGGTCAGTTGACGTTTCTGTGTAAAGTTTCCATGTTTGCGCGGGTCACCTATAGTTAAACAAATGAGTTGTACTATTTTTGAATCCATTCAGCTTATCGTATTTTTTAGCAGGAGCTCTTTGTTCATTCTTACACTAGAATGAGAGGGTAGATTTTAGTCAAATTAACCTAGAAAATTTTCCAACCCTGGCTCATTGTGGATACATACCCAGATCTACATGTCTGAGGACAGTGAAAATATGTAACTGGAGGTACTGTCGCAGTTTTTTGATTTTGCAAATTTATCAGTGGCTACTGTGTATGCTTTTTGATCATCTCAAATTTCTCTTGCATACCCTCTTCTCTTGTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16997
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007013 None None 1096 None 26
ENSDART00000009886 None None 594 None 17
ENSDART00000102903 Nonsense 658 3633 16 78
ENSDART00000126518 None None 362 None 11
ENSDART00000141052 None None 206 None 6
ENSDART00000148305 None None 149 None 4

The following transcripts of ENSDARG00000008487 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 10177482)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 10309820
GRCz11 1 10993931
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGCTCGTCCAGGATCTGCTGACTAACATCAAGAGCAAAGAGGCCGCTGGG[A/T]AGCTGGAAGCAAAGCTGGAGAGGTTTGCTCAGCGCTGGGACAAATTGGTG
Long Flanking Sequence:
AACTTTCATATATATATTTCTAATGATATATGATGTGATAAATTTGTATTTCAAAAAAATAAGTATTATTTTATATTTCTTTATTTTAAATATTTAGTAAGTATTTTTGGTACGTTAAGTGTGGTTATGATGACCATCCGACAAGCTAATTCAGCTGAAAATAATGTGAGATTTAAAATGTATTTAAATCTCATAATTAAATAGAAAATGAGGTGTATAATTGCATCTGCCAATTCTAAATGTATACAGTATTTTATTGTTTATACAGTAACTCCCAATGTTTTCTTACAATTTTCTTATAATTAAGACTTTTTCCTCACAATTCCTAGAAAAAGTGAGAATTGTCATATAAGTTGATGAATGACGCATAGGAGAACATAACAAATTTCTTTCCTCAGATTTTAAAAGCAGACCTGGAGCTGAAGAGGCAGACCATGGACAAGCTTTGCTCGCTCGTCCAGGATCTGCTGACTAACATCAAGAGCAAAGAGGCCGCTGGG[A/T]AGCTGGAAGCAAAGCTGGAGAGGTTTGCTCAGCGCTGGGACAAATTGGTGCAGGCGCTTCAGCTCACCAGCACCAAGGTGGTTATGCTAATGCCATTCCATTTACTGTGTCTCATCTCTTCCGCAATACTCTTCCATCTATTTCTATTTCGCTCGAAATTTGATACGGCTTTCCCTGCCATCGCTCCGAATAAATAAAGCGCTCTCACTATACATCTCGCCGCCTCTCTTTCATGTGCACTTCAGAAATCAGTACACTTCCGTACACTCGCACAATGCATGTCTTACTTTAACTTTCGTCCCCTCTTAGATTTCAACTATTGTCACCACATCCCAGTCGGAGATCACGCACACAACCATGGCAACTGTCACCAAGGTGACCACGAACCAGAAGAAGATGGTGAAGCATACTAAGGAGGGCATGTCCACCCCTCCACCTCAGAAAAAGAGACAGATTGTTGTGGATTCAGAACTGCGGAAAAGGTGAGCTTGTGTGTTTCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19441
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007013 None None 1096 None 26
ENSDART00000009886 None None 594 None 17
ENSDART00000102903 Nonsense 1295 3633 28 78
ENSDART00000126518 None None 362 None 11
ENSDART00000141052 None None 206 None 6
ENSDART00000148305 None None 149 None 4

The following transcripts of ENSDARG00000008487 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 10141856)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 10274194
GRCz11 1 10958305
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTGTAGGAAGTGTGGGCATGCTGGTGTGAGCTGCTGTCTTATTTGGAGT[T/A]GGAGAATGCCTGGATGGACCTACTTGAAAAGAAACTTGATGAAACGGAAG
Long Flanking Sequence:
TGAAGCTGCTGACGGATAAAGTCACCAATTTCATTTCAAAGGCTCCTCCCGCGGCCCATGATGCCCTGAAGGCAGAACTGGATGTTTTGACTTCTAACTACCAGCGCCTGTGCAGCCGACTCGATGGAAAATGCAAGACTTTAGAGGTGAGCTTGATATTGTGCCAGTGATGGGGTTGTGCTCGGGAGTCAGATAGTGTCTGGTTCACTGACATTTATTCATTTGCCAGATGCTTTCAACTTAAAGTCTTTTTAAAGTTTACATTTTATCTGTGCACGCGCATGTGTGTGTGTTCCCTGGGAATCCAACCCATGACTTTGATGTTGCTAGCGCCAGGCTCTTTTAGTTCAAGCCACTAACGCACTTCTAACCTTTTGATCAAATTCTCAGGACCTGGACCCGGCGTAATATGTTTGATTAACCACACGTGTCTCTCCATCTCTTTTGGCTCTTGTAGGAAGTGTGGGCATGCTGGTGTGAGCTGCTGTCTTATTTGGAGT[T/A]GGAGAATGCCTGGATGGACCTACTTGAAAAGAAACTTGATGAAACGGAAGGGCTTCAAGGAGGCATAGAGGAAATTGAAGAAGCTTTGACTGTGAGTGTGCCTCTTTATGCTGTTTTGGGGAACTTTTAATTTTGTATAAGCCAGGTCAGGGGCCTCATTTACGAAGACTTGCATGGAAATCATACTAAAACATTGCGTACGCACAAAGCTGTAAATGTGCGTATGCAGAAAAAAATGTATGATGTATGAAACACTGCGTACGCCGAAGCCCACGCATATTCTTTGTACATCCGAATGAACGTGAAACTGAGCGCAACATGCACAAGCGCAAAACCCCTCCCTGCCTCCTCCCCCGTTCGAATATGCTAAAGACTCTACTTTGGCAAAACCCAACGAAAAAGCAATGGCAAAAGCAAGCAAAAAGAGAAACTTTGAACCGAATGTGATTTGGAGGTGTTCCTTTCGGAGGTAGACCTGAGAAAAACGGTGTTATTTGCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11033
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007013 None None 1096 None 26
ENSDART00000009886 None None 594 None 17
ENSDART00000102903 Nonsense 1520 3633 32 78
ENSDART00000126518 None None 362 None 11
ENSDART00000141052 None None 206 None 6
ENSDART00000148305 None None 149 None 4

The following transcripts of ENSDARG00000008487 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 10134039)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 10266377
GRCz11 1 10950488
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCTGGGAGTGCTGAGTATTCGCAGTGTGGAGCAGGAAGTGGTGCAGTCA[C/T]AGCTTGAGCAGTGCATGGTGGGTAATGTAGAATGTTTAGATACATTTGAG
Long Flanking Sequence:
TTTTTGTTTTGTTTTTTACTCACTCAAATACAAATCAGTTAACTATTTATTTGTTACTTGATTGCATATCCATTTATTTTTTCAATCAGAACAATTGTAAGGATTTCAGTGACCCTCATATCATTGTGTCTTTTAACAGAAAATTCAGACTGAGTTGAACGGCCATGAGGTGACACTGGATGACATGAAGAAAAAGGCTATGGAGGTTGACGCCTCAGAGAAAGTGATTGGAGAGATCGATGCAACATTAGTAAGACTTAAAAATCATATCATATTTTCATAGTTTTTTTCTGCACAAAAAAGTGAAATAATGAAATGCCTGTAAACAAATGTGTCTGTTTAAGGATAAACTTTTGCAAGTAAAGGGCAAGTTCCGGCTTTTCCAAAAGCCAGCGAACTTTGACCAGCGGCTGAGGGAGTGTGAGCGAGTGCTGGAGGAGGTGAAAGTGAAGCTGGGAGTGCTGAGTATTCGCAGTGTGGAGCAGGAAGTGGTGCAGTCA[C/T]AGCTTGAGCAGTGCATGGTGGGTAATGTAGAATGTTTAGATACATTTGAGTGCAGTTGAAGTCAAAATGATTAGCCCTCCTTTGAATATTTTTTTCTTTCTTTTTCAAATAGTTTCCAAATTTGGGTTAACATGGCAAGGAATTTCTTTACAGTATTTCCGATAATATTTTTTTCTTGTGGAGAAAGTCTTATTTGTTTTATTTCGACTAGAATAAAAACAGTTTTCATTTTTTAAAAACCATTTTAAGTTCAATATTATTAGCCCTTTATTCAGTTTGTCTACTGTTATACAATAATTTGCCCAATTAACCTTGTTAAGCCTTTAAATGTCACTTTAAGCTAAAAACTAGTATCTTGAAAAATATCTAGTAAAATATCATGTACTGTCATCATGGCAGATAAAAGAAATCAGTTATTAGAAATGAGTTATTAAAACTATTACATTTAAAAATGTGTTAAAAAATCTTCTTTCTGCTATACAGAAACTGGGGAAAAATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19440
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007013 None None 1096 None 26
ENSDART00000009886 None None 594 None 17
ENSDART00000102903 Nonsense 1776 3633 37 78
ENSDART00000126518 None None 362 None 11
ENSDART00000141052 None None 206 None 6
ENSDART00000148305 None None 149 None 4

The following transcripts of ENSDARG00000008487 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 10128445)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 10260783
GRCz11 1 10944894
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAAAGAACACAGGGGAACATTGTAAAGCTCAAGTGAAACCAAAGCTTGAA[C/T]AGCTTAACCAACGTTTTGACATTGTTGCAAGAAGGATTTTAATGGGACAG
Long Flanking Sequence:
AACTCAATTATTCTAGGTCTTATACTGTAACTTCATTTTTGTAGATAGCACAACTTCAAATTTTTAGCTAATGCAACTCAATTTTTCTAGGTAATATACTGTAACTTAGTTTTTGTAGTTAGAAAAACTTAATTGTTGTAATTACTGCAACTTTTTTTCTAGTTACCGCAACTTAATTTTTCTAGTTCTTATAACTTTTTTTGTAGTTCTCATAACTTACTTTTTTGTTACTGCAATTTAATATTTTTTTTGAGTTTTTAATTGTCAAGTGTAATTGTATTTTTTTTTTTTTTGCAATACCTATGAATTAATCAGATTTATAGCATTTATTCTAAATGCATCATTCATAACTGATTTGTTGGTGTTTTCTGAATGTTCAGGGTTTGCGAATGGAGTTGGAGGAGATGAAGGGGAAAGTTGAAGCAGTGCAAGTTCTAGCAGAGGATCTTATAAAGAACACAGGGGAACATTGTAAAGCTCAAGTGAAACCAAAGCTTGAA[C/T]AGCTTAACCAACGTTTTGACATTGTTGCAAGAAGGATTTTAATGGGACAGGTAATGCTATGAAAAGGTGCATGCCTATACACTACCTGACAAAAGTCTTGTTGTCAATCCCAGTTGTAAGAGCAACGAATTATAACTTGACTTCTAGTTGATCATTTGAAAAAGTAGCAGAAGGTAGATTTTTCAGATGAATCAGATCAGATGAATCAGTACTGCAGAAGACCTATTGAAACCAGCATGGACCAAATATTCTCACTGAAAGTAGTCAAGTTTCGAGAAGAAAAAATCATGATTTGGGGTTACATTCAGTATGGACCAAGCTAGAGATCTGCAGAGTGGATGGCAACATCAACAACCTGAGGTAACAAGACATTTGTGCTGCCTATTACATTACAAACCACAGGAGAGGGCAAATTCTTCTGCAGGATAGCACTCCTTCTCATACTTCAGCCTCCACATCCAAGTTCCTGAAAGCTAAGAAGGTCAAGGCGCTCCAGGATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19439
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
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007013 Nonsense 289 1096 5 26
ENSDART00000009886 None None 594 None 17
ENSDART00000102903 Nonsense 2777 3633 57 78
ENSDART00000126518 None None 362 None 11
ENSDART00000141052 None None 206 None 6
ENSDART00000148305 None None 149 None 4

The following transcripts of ENSDARG00000008487 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 10087703)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 10220041
GRCz11 1 10904152
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCTGGAGAAGCAGAAGCCAGTAGGGGGCGACGTGCCGACCGTTCACCAA[C/T]AACTCCTCACGCACAAGGTGAGCCCAGGACAAATCCAATTCAAGCCTCAA
Long Flanking Sequence:
TTACTTTAAATATTTCCCAAATGATGTTTAACAGAGCAAGGAAATTTTCACAGAATGTCTGATAATATTTTTCTCATGAAAAAAGTATTATTTAATTTTATTTAATTTTATTTTGATTTATTTTATTTTATTTTTGAACAAGTGAAGAGTGAGTAAATAATGACAGAATCAATTTGGGTGAACTTTCCCTTTAAGTACGTAAGCCTGGTTAGAAGTTTTTTATGTTAATGCATATTCAAATCATCAGCAATAGCACTTTCTATGTCAAAATCAACTTCAGCATGACATTACAGTGCTCTCTGGTGGACTGTGTGATTGAACATCTTCCAGTCTGACGTCTAACCATCATTACCGTCCTCAGGCCCTATCTAGATGCCGGCGTTGATCAGTGGAAACACTTGCACATGTCCTTACAAGAGCTGCTCAACTGGCTGCAGCTGAAGAGGGAAGAGCTGGAGAAGCAGAAGCCAGTAGGGGGCGACGTGCCGACCGTTCACCAA[C/T]AACTCCTCACGCACAAGGTGAGCCCAGGACAAATCCAATTCAAGCCTCAATGAAAAGCGTGAAGGATGCGTCGCGATGTGATTTATACGTTTTGTCTTCTGCCGCACCCGAGTGTGATCGTTATCAGAGTTCTTGTTAAATATTTAAACAGATGGAGATGATATCTTGCGTGGGAGAGGTGCAAAGACTCCTGTCTCTTTGCATGGCTGTGCGGACCAATTAACATCTGCTGATGGCCATCATCTGTCAGGGGCCGCTGTAAACAGGATGCGCTTGTGGATTAGTTAGTGTAGAGGAGAAACCGTCACACTCCACAGGTGCATGAGTGAGTGTGTAGGAGCTGCAGAGAAAGTCTCAGCAGTTTTTTTTTTTTTGCATTCTGGTAATGAGTTGACATCGGCGTGATGGGTTGGAGCAAATGTTGGCGAAAATATCCAAACTAGAAATGAAATGATGAGTAGCCATTGCCTTCTATAGTATTTTTGTTTCCTATGGAGTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13095
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007013 Essential Splice Site 564 1096 None 26
ENSDART00000009886 Essential Splice Site 53 594 None 17
ENSDART00000102903 Essential Splice Site 3052 3633 None 78
ENSDART00000126518 Essential Splice Site 53 362 None 11
ENSDART00000141052 None None 206 None 6
ENSDART00000148305 None None 149 None 4

The following transcripts of ENSDARG00000008487 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 10059093)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 10191431
GRCz11 1 10875542
KASP Assay ID:
2259-0251.1 (used for ordering genotyping assays)
KASP Sequence:
GCATACAGGACGGCAATGAAGCTCAGACGAATGCAGAAAGCCCTCTGTTG[T/A]AAGWCCACACCACTTACGTTTTATTGTTGGYTTTCTAAACGGCTAAAATA
Long Flanking Sequence:
CTTGTCAAAAGTGACTATAAAACTGTGATTTATATAAATCACATTTTCATATAAAATCACAATTTGAAGTACATTGACATGCATACGAATAATGCATGCCATTTGCTAGCCTCATTGTCTAGACCTGCTGTGAAGATGTTATACAGTTCACGTTTTAATCTCTGTTGTGGTGTAATTGCCCTTAAGTAAAATGTCAGATTTTTAGATGAAACCATTTTGATCAATGGAGTAATAATGGAGAAACTAATTGGATGAAACTAGCTGGATGTTTCTCCCCTGTTTTTCAGATCCTAACAAATAAGATCCAAATAAAAAAAAATTGTCAGATGCAGAGATGAGAGGTTTTACTGTGTGACAGAAATCAAATGTTGCATGATCAGCATACTAACATAAACGTTTGTCACATTTTCTCTCGCTAAAACAGCGGATCTCAACAACGTGCGGTTCTCGGCATACAGGACGGCAATGAAGCTCAGACGAATGCAGAAAGCCCTCTGTTG[T/A]AAGTCCACACCACTTACGTTTTATTGTTGGCTTTCTAAACGGCTAAAATACAGCTAAAGCTAAAACATTTGGTAATGCTTTATAAGAACCACACACTATGAATCATTTACTAAGCATTAGCAAATAGCTAATTTAATGTTTGTTAAGCATTAACTATATTACAAGACATCCATCATTAACAAAATATGAAAGTACAATCATTATACATGTGCCAAGTCAAGAATACAGCATTTGTAGCTGTAGTTATAAACTACTTGCTAACATCTATTAATGCTTAACAAATAATACATTAACCATTTGCTAATGCTTAATAAATGATTTATAATGTGTAGTTATTATAAAGTTAACAAATATTTCTACTTTTGTCTAAAAGCAAGTAAGAGAAACTACTTGTAAAAAGGAAGGAGTTAGCAGTTAGCTTTCTATTAGCTGTTAGCATTCTCTGTCAGATTGTATTCTCTGTCAGAAATAATGATGATTATAAAAAGCTGTTTGAAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19438
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007013 Nonsense 998 1096 22 26
ENSDART00000009886 Nonsense 496 594 13 17
ENSDART00000102903 Nonsense 3508 3633 75 78
ENSDART00000126518 None None 362 None 11
ENSDART00000141052 Nonsense 106 206 2 6
ENSDART00000148305 Nonsense 51 149 1 4

The following transcripts of ENSDARG00000008487 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 10024750)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 10157088
GRCz11 1 10841199
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGAAGCCAAACTACTGCGGCAACACAAGGGACGATTGGAGGCAAGAATG[C/T]AAATCCTGGAGGATCACAACAAGCAGCTGGAATCGCAGCTTACACGCCTA
Long Flanking Sequence:
ATGCAGCGCACTGTAGTTAATGTAGACTGATATTACGAGCGATAATAGTGTTCATGCAGCACACTGTATATTGTATACATGGAGATTATGAGCAATAATAACTTATTCGTGTAGTATGGCACAGCTTGTATAATTGGAGATTACGAGCGTTAATAACCCGTTCATGCAACATGCCATAGTTTGTGTAGAAGGAGATTACGAGTGTTAATAAAGCATTCGTCCAGTGCACCATAGTTTGCACGGAGATTGAGAGCAATAATACAATAATACCACTTAATAAATGAAGCCTGTTTTCCACTCGTGAAAATTTCTAATGTGTTTACAGGAAGCTGCAAGCGGAGTACGATCGTCTGAAAAAGGCACACGATCACAAGGGTCTGTCACCGTTGCCTTCACCTCCACAGATGCTTCCGGTGTCGCCTCAAAGTCCACGCGACGCAGAACTAATCGCAGAAGCCAAACTACTGCGGCAACACAAGGGACGATTGGAGGCAAGAATG[C/T]AAATCCTGGAGGATCACAACAAGCAGCTGGAATCGCAGCTTACACGCCTAAGACAGTTACTCGAGCAGGTGGGTGGCGCATATCCTTAAGATTTTAATCGTGTTTATGCTCTCTGGCAATGAATAACTACTTTTGGAAGCGACTGGAAAGGATTGAGAGTAAATGTCCATGGATTGCGCACCAAGGCATCTTTTAGCGGCGGAATGTGACACTTTTTACGTGCTTCCTTTTAACTGTTGATAGAAGAGATGAAATATTTGAAATGATATATTTTTATGTCAATATTTGCCTTTCAATGTTTGTCATATTTGTAGTTATATATAAATCCTTAACAATGGTTGCAGTTTTATGAATATTTTTCAGTATATCTTAATTAAGTTTATACTGTGTGTTCTGGCATTACTTTGTCTATGATCTGTAAAAGACACATGTAATGTTTTTTTGGAAATTGTCCAAAATGAGGTGTTAAGAGAGGTTTTTTTTTTTCTGGGTGTGTGTGT
Associated Phenotype:
Not determined