Busch Lab

ZMP

si:dkey-42d18.3

Ensembl ID:
ENSDARG00000014651
ZFIN ID:
ZDB-GENE-081104-411
Description:
Novel protein similar to vertebrate supervillin (SVIL) [Source:UniProtKB/TrEMBL;Acc:B8JKW2]
Human Orthologue:
SVIL
Human Description:
supervillin [Source:HGNC Symbol;Acc:11480]
Mouse Orthologue:
Svil
Mouse Description:
supervillin Gene [Source:MGI Symbol;Acc:MGI:2147319]

Alleles

There are 20 alleles of this gene:

Allele Name Consequence Status Availability
sa10598 Nonsense Available for shipment Available now
sa14792 Nonsense Available for shipment Available now
sa19885 Essential Splice Site Available for shipment Available now
sa14317 Essential Splice Site Available for shipment Available now
sa13615 Essential Splice Site Available for shipment Available now
sa11474 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa10598
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111670 Nonsense 300 2195 6 48
ENSDART00000134711 None None 179 None 6
Genomic Location (Zv9):
Chromosome 2 (position 49386475)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 49089881
GRCz11 2 48824111
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATAAGTGTTAATTCCTCTCTTTCCTCCATTAATGAAGAATAAGAGTTAGA[G/T]AGAGACAGACAAGGGAGGACATATCAGGAAGAGRTTCTGATTCAGGACCA
Long Flanking Sequence:
TCATATTCATGATCCTTTAATGTATAATAACCATAGATGATGGCAAACAGTTCCCTTTCTACCTTTCCTCTTTACTGACCCTCTCCCCCTCACAAAAATATGACCAGCTCCTAACAGAGAACCTTTGCTTCAATCCTTTTTCTATTTGTCCCTTTATGAAATAATAACAGGTGAAGTTATTTGTGTATGAGTGAGTCACTGCTAGTTGATAAGGTGTCAGTAAATGGTTACCAGAGCTCATTTGCCTTTTAATGAAAGGTTATAAATATCTGGACTTTCCAACTGTTGACTAAATTAATCTGAAAAGAGAATATGATGATCTGTTTTCTTTTTCTGTCTATTTCTTCCAGTAGCTAACTGTAGAATTTAAGATGAGGAGATGGTCCTTACTACTAGATTTTTGGACAAACGTTTTCTCTCAAAGTGATGCAATGTCATGTTTTGAATTTGATAAGTGTTAATTCCTCTCTTTCCTCCATTAATGAAGAATAAGAGTTAGA[G/T]AGAGACAGACAAGGGAGGACATATCAGGAAGAGGTTCTGATTCAGGACCAGATACGCCCTCTGTCAGACGTCATCCAACAGTTGCCCCTCCATATTTGGCTCCACGACCTCAATCTGCAAATCAGCCAAGAACACGGAGCACCGAACCCCCAATTCAACAACCAAGTCAAGGAATGGATGCCCGTCAACAAAGGGCGCATAGTGCAGAGCGGCCACGATTCCAGCGCACTCACAGTATGGATTCACCTGCCTTTCAACACACACCTTCAGGTGGTATGACAAATCATTCTTCAAAATATGAACAAATTCCTAGTGTACACCCTAGCACCATGGGTCATCAACCTGGGTTCGGACAAATGAAGCAACCCTTACCAAAGCGAGGGAGTCAAGATGCTCAACAACCATCACAAATGCACAGACCTTCCCAACAACCTCACCCAGCATATAAAGACCTCCAACAGCCATTACCTGGTCATAGAGATGCCCCGCCACCTGTACAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14792
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
ENSDART00000111670 Nonsense 372 2195 6 48
ENSDART00000134711 None None 179 None 6
Genomic Location (Zv9):
Chromosome 2 (position 49386259)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 49089665
GRCz11 2 48823895
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
STCAAGGWATGGATGCCCGTCAACAAAGGGCGCATAGTGCAGAGCGGCCA[C/T]GATTCCAGCGCACTCACAGTATGGATTCACCTGCCTTTCAACACACACCT
Long Flanking Sequence:
TCAGTAAATGGTTACCAGAGCTCATTTGCCTTTTAATGAAAGGTTATAAATATCTGGACTTTCCAACTGTTGACTAAATTAATCTGAAAAGAGAATATGATGATCTGTTTTCTTTTTCTGTCTATTTCTTCCAGTAGCTAACTGTAGAATTTAAGATGAGGAGATGGTCCTTACTACTAGATTTTTGGACAAACGTTTTCTCTCAAAGTGATGCAATGTCATGTTTTGAATTTGATAAGTGTTAATTCCTCTCTTTCCTCCATTAATGAAGAATAAGAGTTAGAGAGAGACAGACAAGGGAGGACATATCAGGAAGAGGTTCTGATTCAGGACCAGATACGCCCTCTGTCAGACGTCATCCAACAGTTGCCCCTCCATATTTGGCTCCACGACCTCAATCTGCAAATCAGCCAAGAACACGGAGCACCGAACCCCCAATTCAACAACCAAGTCAAGGAATGGATGCCCGTCAACAAAGGGCGCATAGTGCAGAGCGGCCA[C/T]GATTCCAGCGCACTCACAGTATGGATTCACCTGCCTTTCAACACACACCTTCAGGTGGTATGACAAATCATTCTTCAAAATATGAACAAATTCCTAGTGTACACCCTAGCACCATGGGTCATCAACCTGGGTTCGGACAAATGAAGCAACCCTTACCAAAGCGAGGGAGTCAAGATGCTCAACAACCATCACAAATGCACAGACCTTCCCAACAACCTCACCCAGCATATAAAGACCTCCAACAGCCATTACCTGGTCATAGAGATGCCCCGCCACCTGTACAAAAATATCGAGCTATCCTTCAACCGGTACCTTTAGATCAGGATACTCGCCAACCCATTCAACCTCAAGTACCTACTCAGAAGCCTCTACATGAACGTGAACAAATCTTGCATTCACGTTTGTCGCATGGACATTATGGTCATAATCAACCATTGCAGTATGGTCCAGTCCAGACACTACCTCCAGCCTATGGACAAACTGTCCACTCTGTTCCTTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19885
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111670 Essential Splice Site 460 2195 8 48
ENSDART00000134711 None None 179 None 6
Genomic Location (Zv9):
Chromosome 2 (position 49385291)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 49088697
GRCz11 2 48822927
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTGTTGGAACTGGAATTACTCGGATGGAGGAAGGTGGAATGATATCAGG[T/C]GAAATGGTAATTGGTATTCTAAAAGACAGAGGATGTGATGATCGAAGAAC
Long Flanking Sequence:
GCCTATGGACAAACTGTCCACTCTGTTCCTTCTCATGTATCTAGCCATCTACCCCCACCAAATTCTCATGTACCTCACCTTGCACCTGAACCCCCACTTTCTAGGTCTGAGACACTAGATCCCAAGGGCCACATGTCTTCATCTAGTTTGACATCTGCTGACAAAGAGGTTAAAGAAAATAGACTTAGAACCAACGCTGATCACATTCAGCCAACTCAAAGAGAGGGTCGATCAGCAACCAGAACTAATCCGCCATCAGAAGGGCTACTTAAAAGCAGAAAGGCGGTACTACCTTCAGAGATACGACGCAGACAAAAAAGTGTGGATGATCCAATGCGTGGTCAAAGTGATGAAGGTTTGGAAAGTCGGAGAATCAGAAGGATTAGCCATTCAGATGAGACCGAGGAGAAAAGTGGAAGAATGTTGCACCAGTTGGAAGGGAGGGAAGGGCCTGTTGGAACTGGAATTACTCGGATGGAGGAAGGTGGAATGATATCAGG[T/C]GAAATGGTAATTGGTATTCTAAAAGACAGAGGATGTGATGATCGAAGAACAAGTCAGCCTGAGAAAAGAGAGATAGATAATGGCACAACAAAGATATGGATAGGTGAAGAAGTAGAACGCGGTGTAAGGAAGATTGGTCAAAGAGAAAAAATCAAGCAGGTCAGTGGTATTAAAAGGGATGAGGAGAGCTCTGATTGGAATACTAACCGGTTAGGAGAGATAGAACAAGGAAGTGCGAAGAAGGTTAATGAATTCAAAGAAAGAGAATGGGAAGTTGATCGAAAAAAAGGCCAAGTTATACATACTGTGGAACCACAGGGTGTTAAAACGGTCAGACAGGAGGTACAGGAAAACCAGAAGTTCCTACAAAAGGATGTGGAAGAAAATCATGGAAGAAGACGACAGATCAATCCATTAGAGAATGAGGAAGGGCATGTTAGACGAAGAAGGATAAGCCAATCCGAAGATGATTGGGAGGGACGTAGGGTACGTAAAATTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14317
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111670 Essential Splice Site 836 2195 17 48
ENSDART00000134711 None None 179 None 6
Genomic Location (Zv9):
Chromosome 2 (position 49364885)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 49067881
GRCz11 2 48802021
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAACACCCGCTTTCAGACCCAGCCAATCACTCAGGACGAGGTYGATCAGG[T/C]AGGGCCTCCCTCTTTTTYTCCATCTGAACAAGTTCACAAATATGGAGTTT
Long Flanking Sequence:
NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNAAGCCAGACGAAGGCAGGAAGAATATGCAAACTCCACACAGAAACGCCAACTGAGCCGAGGTTCGACCCAGCAACCATCTTGCTGTGAGGCGGCAGCACTACCTACTGCGCCACTGCCACGCCCTGATCTCTGCATTACTATAGCATAAACTTATAATTCTCTTCCCAGTCTGCAGGCATCATCAGCGCAGGAATCGGCCCATCAAGAGCAGGAGAAAGAAGATGTTTTGAAGGAGGTGGGTCCTGAAGAAAGGGAGGCGGGGCCTGATGAGCCAGACCTATCAGCACTGAGTCTGGCTGAGAAGATGGCGTTATTTAATCGATTGTCACAACCTACTGACCAATCAGCAAACGGGCCTCTTCCTGACACACGCCAGCGCAGGGCCAACACCCGCTTTCAGACCCAGCCAATCACTCAGGACGAGGTTGATCAGG[T/C]AGGGCCTCCCTCTTTTTTTCCATCTGAACAAGTTCACAAATATGGAGTTTTGTTGTGATTTTTATTGATGCCACCCTTCAAGTTAATATACAGTGGGGAAAATAAGTATTAAATACGTCATTATTTTTCTCAGAAAACATATTTCTAAAGGTGCTGTTGACTTGAAATTTTCCCTGGATGTTGGTTACAACCAAATAAATCCATATATGCAAAGAAAACAAAACTAATTAGTTTACAAATGAAGCTATGTGTAATAAAATGAAATGATGCAGGGAAAAAGTAATGAACACATGAAGAAAGGGAGGTATAGAAAGACAGTGAAAGCCCAGACTGCAGCTGAAATCTCTCTGTATTTAGCGACCCTCTGAGCAACCCTCTGCTCTTCGTCATTCAAATGAATATCAGCTGCTTCAGTCCAACATCTACATTAGCAGGATGATGGAAATAAAACCAGGGTTGACAACTCAGCAAGACAATCATCCAAAACACAGCCAAGAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13615
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111670 Essential Splice Site 926 2195 18 48
ENSDART00000134711 None None 179 None 6
Genomic Location (Zv9):
Chromosome 2 (position 49357967)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 49060963
GRCz11 2 48795103
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATCGCCACACAGCAAGGGCGGGGCTGCATCAATTCCAGCCAATAAWGAAA[G/A]TGGGCAGAGGGGAAGAGCGGGGTATTTAGGCAGAGAGGAGAGAGAGGCAG
Long Flanking Sequence:
CTATGCAAAGCACATCCAATCTCTGCAAGCTGCCTCTGAATCGTGCGTCCTGCATATGACCTCTGACCTCTGAAATGTGAACACCATATAAAACCTCATCCTAAAATGCAATTACTCTCTCTCTCTCCCCCTCCATCTCTCTCCATCTCTCCAGCTGCAAAATGGGAGCATGAAGCTGGAGCCTCTCTCCGCATCACTGGTCCGCTCTGTTACTGCCGTCACCGCCCAGGCCTCTGTTGCCACGCTAGCATCCGCTTCCCCATCAATGACCGCAGATGTTCGCATGGGGATGCCCGTGGCTCCGCCCTCCACTCAAGCCTCACCCAATCAGACGGCACCCGCTCCGCTTCCGGCCTATGAGAGAGGAGTGCGCTACTTCAGTCTTACAGAGAGTGGGGAAAATCCCACACCTGATGTCCAGTCTCCGCCCCCAGCAGAGCCGTTCAGCCAATCGCCACACAGCAAGGGCGGGGCTGCATCAATTCCAGCCAATAATGAAA[G/A]TGGGCAGAGGGGAAGAGCGGGGTATTTAGGCAGAGAGGAGAGAGAGGCAGATCTCCCCAGTGCGGCTTCCCCTCCGCACCCGTTCACACACACACCTCCTCATGGCAGGGGGGATGCAGAGCTGAGCGGCCCCAGACACTGGGAGAAAGACGGCACACATAAAGAGGGCTACCTTTCACCAGACGCCCAATATACGGCAAGAGGAGCCAATACAAGAGCCATCGTCTCAGGTAATTGAGGGTGTGTGAACCAAAAAAGAAAAGATTTTGTTTTTAGCGTTCAGCGTGTGTGCAAAATGCAGCCGGCTTGTGATTGGGTTAACTGACATGCTGCTGGAGTCGAATGTGATTAGCATAATTTATCATAAATCAAGCACGCGGCTCTCTTTGTCTGAGCCGCACCAAACTAATGATGCTGAAATGAATCAGGCTGAAGGCGAAGTGGAGCGAGCTTTTGTTTGCGCTCATGGCTGATACTCTCCGCTGGTCTGGAAGCCTGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11474
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
ENSDART00000111670 Nonsense 1000 2195 22 48
ENSDART00000134711 None None 179 None 6
Genomic Location (Zv9):
Chromosome 2 (position 49352917)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 49055913
GRCz11 2 48790053
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAATCTACACCCGGCCTCAAACGCAACCTTACAGCCCACCGACACCATCA[C/T]AAACWCTCCACCCGGACRTCCATCCAGMGTATCACGATCTTCAACGGCAA
Long Flanking Sequence:
TTAAAATAATGAATAAGAAGGCTGTGGTCAAGTAAATAAATAAATTATTTTTAAAAAGTGTGACTGCTGAGAGCAACAGATTCTGGAGCTAGGGACCCCGGCCCTCGCGGCCAAAAAACAGACCGGCCCACTGGGAATTTTCCCGGTCCTCCCGATTAGCCAATACGGGCCTGGATATAATATATTTTACATATTGTAAAAAGGCGCATAATTGGTCCCCTATAAAACAGACTTTTAAAAAGACTTGAGTATGTGTATATTACATGTATATTTGTTCTCATGCTGGATCTCTCTGTGTTTCTCCAGATGTCCCAGATCCCAGTGTCCCCGTGAGGGCTTTGAGCAGCACTGCAGCCTCCTCCAGAAGTTCATCACAAACCACACACTCGCTCTCTCACCTCCAGTCATACACTCCTCCACAACCCCAACCCAAACCAGCGCAGCACCCTCAAATCTACACCCGGCCTCAAACGCAACCTTACAGCCCACCGACACCATCA[C/T]AAACACTCCACCCGGACGTCCATCCAGCGTATCACGATCTTCAACGGCAAACCAGAGTCCCACCGCAGACTCAGCCGAAACCACAGCCTTTCCTTCCGCCTCAATCACACGCATACATTTCTCCTCCGCCCAAAATACCTCCTCAAACCCAGCCCAAACCCCAGTGCTTCATCCCGCCTCAGCCTCAAGAGGAGATCGTGGGGAAATACGGCCCGTCGGGAGCCGCCGTCTCCAAAGAGCCAAAACCAGAGGTGCAGGAAGATCCAGAGGCCATGACATCAATGTCTATCAAAGAAAGGTGTGTTGAAAGTGCATTGATTGAAGTTTCAGGTCAACTGTGATGTTTGAAGATACAGTGCTCAGCATATATCAGTACATCCCTCTCATATCTATATTTTAAATAATTATTTTTAATTCACCTTATTCTTTGTCGACGAGCGGGCGCAGCCATTTCAATCCTTTTGGCTCGAGACTTCCGGTGTCATTCACTTCCATTCATT
Associated Phenotype:
Not determined