Busch Lab

ZMP

si:ch211-24c14.1

Ensembl ID:
ENSDARG00000021987
ZFIN ID:
ZDB-GENE-100917-2
Human Orthologues:
EPPK1, PLEC
Human Descriptions:
epiplakin 1 [Source:HGNC Symbol;Acc:15577]
plectin [Source:HGNC Symbol;Acc:9069]
Mouse Orthologue:
Plec
Mouse Description:
plectin Gene [Source:MGI Symbol;Acc:MGI:1277961]

Alleles

There are 12 alleles of this gene:

Allele Name Consequence Status Availability
sa12243 Essential Splice Site Available for shipment Available now
sa14270 Nonsense Available for shipment Available now
sa14343 Nonsense Available for shipment Available now
sa16747 Nonsense Available for shipment Available now
sa15190 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12243
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
ENSDART00000014024 Essential Splice Site 699 4506 17 32
ENSDART00000144558 Essential Splice Site 723 4530 19 36

The following transcripts of ENSDARG00000021987 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 6719094)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 5563625
GRCz11 16 5463251
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAGGAGACAGACTCATTAAAGACGGACATCCAGGCAAGAAGACTGTGGAG[G/A]TAAGCAGATTTTAAATGAAAGGTCTTCTACTCAAGAAGYTGCATTTTTTT
Long Flanking Sequence:
AACTGTTTTCTTGCTAGTGTAGCGTTCAGTTTTTCCACTTACAAAGTCCGCCATGTAAATAGCAAATGTGCCGTGGCACAAGACATCGGACTCTTAAAGGGAATGTGAGATGATACTCGGATTGGTTTAATGCCTGTTATGCTCAAAACACATCCATAACTCATAAAGAGAATAAGCACAACCCTGTTAGACCATGTGCCAGGGCACATTTTGCTGTCCTTAAAATAGTAGAAAGAAAAAGTGGATTCGGACACGTCCTTAATGCTTTTGCGTCATGTGCTTTAGACTTTGCGCCTAGATCATTAAAATAGAGCCCAAGGCCTTTAAGCAGTTGATAAATAGGTAGATATATTTTACAGTCTGAAATCATCTTCATGGCTTCATTAATTCCTCAGGGACTGATGCGAGAACTGGAACTCAGAGAGAAGAAGGTCAATGACATCCAGGCTACAGGAGACAGACTCATTAAAGACGGACATCCAGGCAAGAAGACTGTGGAG[G/A]TAAGCAGATTTTAAATGAAAGGTCTTCTACTCAAGAAGCTGCATTTTTTTAATATCATTTTTTTTATCAAAAGTTATTCTTGCAAACTAATGTCCGACAGGATTATCAGCCTCCCAACATGAAACTGAGACTAAAGGGCTTTATTCTGAGAAAATTAATCCTTATTTAATGTTTTATCGCCCAGTCCTAATCATAAATGTCTTTACTATCACTGTTGATCAATTGTTGTGTTTTGAGTATTGAATGTGTGTGTTGTGTTGTTGGTCTGCAGGCATTCACCGCGGGTCTGCAGACTCAGTGGAGCTGGATCCTGCAGTTGTGTTGCTGCATTGAGACTCATCTCAAAGAAAACACTGCTTACTTTCAGGTGATACGCCATCAACCTTTCCACCCACCTATTTTTATACGCATTTTGGATTATTGTATAAACATGCTTGATGGAAATGCCAAGATGCCCAAACATTCCATCTTTGGATGGAAACGTGTAATCTACAGTAACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14270
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
ENSDART00000014024 Nonsense 802 4506 20 32
ENSDART00000144558 Nonsense 826 4530 22 36
ENSDART00000014024 Nonsense 802 4506 20 32
ENSDART00000144558 Nonsense 826 4530 22 36

The following transcripts of ENSDARG00000021987 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 6720084)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 5564615
GRCz11 16 5464241
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACATCGCCAACCTGAACAAGAGAGCCAAATCTGTGATCCAGCTGAAGCCA[C/T]GRGACCCCACCTGCCCCTTCAGAGGAAAAYTGCCCATCCAGGCYGTGTGY
Long Flanking Sequence:
CTACAGTAACTCTAATCTTCACCAGACATTGGTATTGATATAAACTGTATTAAATTGACATAAACGGTATTTTCAGCTTATCGTCTGCTCTCTTCAATAGTTCTTCGCTGATGTGAAAGAAGCGGACGAGAGGCTGAAGAAGATGCAGGATACGATGAAGAAGAAGTACATGTGCGACCGCAGCACCACCGCCACACGCCTAGAGGATCTGCTGCAGGACGCCGTCGTGAGTTCACACTAACAACTACACTAATGCTGGTGTCTGTTGTGCGTTTATCAGTATCGTTTACTGCACAGAGCTGAGGATCATGGACTGTGATGTTGTAGACTTGTACTGGAAGAAAAATTCAGATGCCAAAACTTGAACTCTGGTAGGTCAGCTTGGATTTCTGACAGCTTTACATTGTGACCTGCAGGAGGAAAGAGAGCAGGTAAACGAGTTCAAGAACGACATCGCCAACCTGAACAAGAGAGCCAAATCTGTGATCCAGCTGAAGCCA[C/T]GAGACCCCACCTGCCCCTTCAGAGGAAAACTGCCCATCCAGGCCGTGTGCGACTTTAAGCAGATGGAGGTAAACACAATCACACACACATCGACAGCCAGTGAACGCTTACAAGTCAACATTGGCTCCAAAAATACATTGAGGACTGAATGTTCACTTGCCTCTATCTTCCCTGAAGTTTGGGTATAAACTTGGCTGTAGCCATTGACATCCAAAAATATGTACTTTAGAACCTTCCAAATTCCAACATTCTTCAAAATATCTTCTTTTGAGAAGTACTTTGATTTTTGGATGAACTGTTTATGTTTCCTCTCCAGATCACGATGCATAAGGGTGATGAGTGTGCGCTGATCAATAACTCTCAGCCGTCCCGGTGGAAGGTGCTGAACCGCTCAGGCGATGAGGCTGTCGTGCCTTCCATCTGCTTCCTGGTGCCACCTGTCAACAAGGAGGCCGTCGAGAGCGTCAGCGGGTAAACCAGATTAGCATTCTGTTGGTTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14343
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
ENSDART00000014024 Nonsense 802 4506 20 32
ENSDART00000144558 Nonsense 826 4530 22 36
ENSDART00000014024 Nonsense 802 4506 20 32
ENSDART00000144558 Nonsense 826 4530 22 36

The following transcripts of ENSDARG00000021987 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 6720084)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 5564615
GRCz11 16 5464241
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACATCGCCAACCTGAACAAGAGAGCCAAATCTGTGATCCAGCTGAAGCCA[C/T]GRGACCCCACCTGCCCCTTCAGAGGAAAAYTGCCCATCCAGGCYGTGTGY
Long Flanking Sequence:
CTACAGTAACTCTAATCTTCACCAGACATTGGTATTGATATAAACTGTATTAAATTGACATAAACGGTATTTTCAGCTTATCGTCTGCTCTCTTCAATAGTTCTTCGCTGATGTGAAAGAAGCGGACGAGAGGCTGAAGAAGATGCAGGATACGATGAAGAAGAAGTACATGTGCGACCGCAGCACCACCGCCACACGCCTAGAGGATCTGCTGCAGGACGCCGTCGTGAGTTCACACTAACAACTACACTAATGCTGGTGTCTGTTGTGCGTTTATCAGTATCGTTTACTGCACAGAGCTGAGGATCATGGACTGTGATGTTGTAGACTTGTACTGGAAGAAAAATTCAGATGCCAAAACTTGAACTCTGGTAGGTCAGCTTGGATTTCTGACAGCTTTACATTGTGACCTGCAGGAGGAAAGAGAGCAGGTAAACGAGTTCAAGAACGACATCGCCAACCTGAACAAGAGAGCCAAATCTGTGATCCAGCTGAAGCCA[C/T]GAGACCCCACCTGCCCCTTCAGAGGAAAACTGCCCATCCAGGCCGTGTGCGACTTTAAGCAGATGGAGGTAAACACAATCACACACACATCGACAGCCAGTGAACGCTTACAAGTCAACATTGGCTCCAAAAATACATTGAGGACTGAATGTTCACTTGCCTCTATCTTCCCTGAAGTTTGGGTATAAACTTGGCTGTAGCCATTGACATCCAAAAATATGTACTTTAGAACCTTCCAAATTCCAACATTCTTCAAAATATCTTCTTTTGAGAAGTACTTTGATTTTTGGATGAACTGTTTATGTTTCCTCTCCAGATCACGATGCATAAGGGTGATGAGTGTGCGCTGATCAATAACTCTCAGCCGTCCCGGTGGAAGGTGCTGAACCGCTCAGGCGATGAGGCTGTCGTGCCTTCCATCTGCTTCCTGGTGCCACCTGTCAACAAGGAGGCCGTCGAGAGCGTCAGCGGGTAAACCAGATTAGCATTCTGTTGGTTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16747
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
ENSDART00000014024 Nonsense 2578 4506 32 32
ENSDART00000144558 Nonsense 2602 4530 34 36

The following transcripts of ENSDARG00000021987 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 6742769)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 5587300
GRCz11 16 5486926
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTCAACAAACAAAAGGAGATGCARRAGCTTGAAAGGAAAAAGCTTGAA[C/T]AAGAAAGGATGCTTGCTGAGGAAAACCAACAACTGCGTGAGAAACTTCAG
Long Flanking Sequence:
CCAAAAACTAACATTGCTTAATTCAGTTTCTTTTTTATAACCATTTTCCAATATTTGATTATTATAAACCTTATTTCTTTCTCATTAACCATAAAATGAATATTTACATTATTCATAATTGTCTGTCTGAATTTTTTTCAGCATGGTTTTAATTTTGTTCATGATTTCTTCTTTTACAGATGGTGAATGCTCAGCAAGAACAAATTAAACAGGAGAAAACAATCCTCCAGCAGACATTTATGTCGGAAAAAGAGATGCTGTTGAAGAAGGAAAAACAAATAGAAGATGAAAAGAAGAGGTTAGAGAGTCAATTTGAAGAGGAGGTCAGAAAATCAAAAGCCCTAAAAGATGAGCAAGAACGCCAAAGAAAACAAATGGAGGATGAAAAGATAAAACTCAAGGCCTCTATGGATGCTGCTCTGATAAAACAAAAAGAGGCTGAAAAAGAGATGTTCAACAAACAAAAGGAGATGCAGGAGCTTGAAAGGAAAAAGCTTGAA[C/T]AAGAAAGGATGCTTGCTGAGGAAAACCAACAACTGCGTGAGAAACTTCAGCAGCTTGAGGTTGCTCAAAAAATCACCCAGGAGATTCATATCCAGACTGATTGCAAGAAAGTCCTCAATGGTCAAAGTATTGAGGTTGACGGCACACAGGGTTATCCTGGATTATCTTTTGATGGAATTCGTGAGAAAGTGCCTGCAAGCAGACTGTTTGACATAGGACTTTTAAGCAAAGTGGATTATGATAGACTCCAGAGTGGTGGCACCACTGTCCAAGAACTTAGCAAGACAGACAAACTTAAAACAATTCTTAGGGGCAATAACTGCATCAGTGGCTTGCTTGTTCATCCAAATCAAAAAATGCCTATATATCAAGCCATCAAAGAAAAGAAGATTGCTCCTGGTACTGGGCTAGTGCTGCTAGAAGCACAGGCTGCTTCAGGATATATAATCGACCCAATTAAAAACAAGAAACTCTCTGTCAATGAGGCAGTTAAGGAGGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15190
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014024 Nonsense 3833 4506 32 32
ENSDART00000144558 Nonsense 3857 4530 34 36

The following transcripts of ENSDARG00000021987 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 6746536)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 5591067
GRCz11 16 5490693
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GATGAGGTTCAAGGATATGTRGATCCATTAACTRATGAAAAGWTGTCATA[C/A]GCTCAGCTTCTGAAAAGATGCAAAGTTGACAAAGATGGGCTGCATCTGTT
Long Flanking Sequence:
GGAACTGGCAGTGTTGCTGGAGTGGTGACTGATTCAAATTCTAAGATCAGCATTTATCAAGCAATGAAGAGAGAGATTTTGAAGCCAGAGATTGCAATTGGTCTCTTGGAGGCACAGGCAGCCACTGGATTCATTGTTGATCCTGTTAGGAATGAAATGCTTACCGTAGATGAAGCAGTGCGCAAGGGTATAGTGGGCCCAGAATTTCATGATAAACTCCTGTCTGCAGAAAGAGCAGTCACTGGCTACAAGGATCCATATAGTGGAAAGGTTATCTCCCTTTTCCAAGCAATGAAAAAGGGCCTTGTCCCTGAGGATTATGCTCTAAGGTTACTCGAAGCTCAAACAGCAACTGGCGGAATTGTTGATCCAGAGTATAATTTCCATCTGCCAACAGAGATTGCCACACAGCGTGGATACATCAACAAAGAGACCAATGAAAAGCTGTCTGATGAGGTTCAAGGATATGTAGATCCATTAACTGATGAAAAGATGTCATA[C/A]GCTCAGCTTCTGAAAAGATGCAAAGTTGACAAAGATGGGCTGCATCTGTTGTCACTGGCAGACAGAAGGCTACTCTTCAGAGGTCTCAGAAAAGAAATAACAATAGAAGAGTTGATCCGCTCCAAAATCATTGATGAACAAACAGTCAGTGAGCTGAATGAGGGACGGCTAACAGTGGAGGAAGTGAGCAACAGATTGAGGAAATATCTACAGGGCTCAAGCTGCATTTCTGGTGTGTTTGTAGAGTCTACTAAAGACCGTCTATCTATCTACCAAGCCATGAAAAAGAATATGATCAGGCCAGGTACTGCTTTCGAGTTGCTGGAAGCTCAAGCAGCCACAGGGTATATCATTGACCCGATAAAGAATCTCAAGCTAACGGTAAATGAAGCAGTTAAGATGGGAATTGTTGGCCCGGAGTTCAAAGACAAGCTGCTTTCTGCTGAGAGAGCTGTGACTGGTTATAGAGATCCCTATACAGGCAAAATGATCTCACTCTT
Associated Phenotype:
Not determined