Busch Lab

ZMP

MYOT

Ensembl ID:
ENSDARG00000076312
Description:
myotilin [Source:HGNC Symbol;Acc:12399]
Human Orthologue:
MYOT
Human Description:
myotilin [Source:HGNC Symbol;Acc:12399]
Mouse Orthologue:
Myot
Mouse Description:
myotilin Gene [Source:MGI Symbol;Acc:MGI:1889800]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa10641 Nonsense Available for shipment Available now
sa8775 Nonsense Mutation detected in F1 DNA Not yet available
sa22435 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa10641
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115101 Nonsense 116 653 3 11
Genomic Location (Zv9):
Chromosome 14 (position 12509728)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 11945501
GRCz11 14 12251515
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CACCAAAGGGAGTTAAAAACAGTGTTCCACATCCATTCCTTCTCACCAGC[A/T]AGCTGAATAAACAAGTAGAAYCCAAGGGCAGTGCCACGAATGTGGCTGAC
Long Flanking Sequence:
TTGAGATCATTGTGGTCGTAGATTCTAGGCATTGGACAACCACACCAATGTTTGAGCCCAGTTGCCCAATGAAAGTTATGTCAGAGAACGTATGTTGTCTCTGGCACAATGTAAGCAAGCACAGTGAAATTCATCATAATCAGTGATGCTGTCTATGTCTCAATGCATTATTTAAGCATGATTTAGTGTGCCTGTATTTTTAAATTTTACCTGTAAAACATTGTCACGTTGCAAAATGCCTCTTAATAGTCACTAGACTGCATATCATCAGTGACATTTTTTTTTTTTTGCTTGGCATAAGTAATCTAAGTCTAAATGTTCTTTCCAACAGGGTACTGGAGTCTGGCATTAAAAAGGTTGAGTCTCTCCCAGACACTGACAGCGAACAGAGTTCTGTCAGTAAGGTGGCTGAAGATACAAACCTCTCCCCAATGATCAAACTTGATTCTCCACCAAAGGGAGTTAAAAACAGTGTTCCACATCCATTCCTTCTCACCAGC[A/T]AGCTGAATAAACAAGTAGAATCCAAGGGCAGTGCCACGAATGTGGCTGACCTGCCCACCTTTTCACCATCATTGTACCCTCCAAGTGCTTTTAATTATGAGCGCCCTCGCCATTTTATCCAGTCCCTGCCCAGTTTCCACACACATGACACTGAGACCAGCAAGCCAAATGATCTTTGTGTTCCAGCTACAACTCCTGCACCCTTAGTGACCCCTCCTCTTCATGCACCCACTCAGACATTAATGTGTTCCAGCATGACTTTGATTCCTAAAGCAAGGAGTACTCCAAACAGTGAGAATCTATCACCAGCAGCTTTCCTATCATCAGTCCTGCCTTCACCTCCAAGCTGCCAGTCAAAATGCCTTTCCATACCTCAATCACCCAGGCACTCCTCTAGATCACCCAGCCCAACACAAAAGGTCCAAGAACCACCCCTATCTCCTTCAAATCAGTTACGGAATCTCCCTGCCCGGATACCTCCAGATACATTGAAAACTACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8775
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115101 Nonsense 206 653 3 11
Genomic Location (Zv9):
Chromosome 14 (position 12509458)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 11945231
GRCz11 14 12251245
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCATGCACCCACTCAGACATTAATGTGTTCCAGCATGACTTTGATTCCT[A/T]AAGCAAGGAGTACTCCAAACAGTGAGAATCTATCACCAGCAGCTTTCCTA
Long Flanking Sequence:
GTGACATTTTTTTTTTTTTGCTTGGCATAAGTAATCTAAGTCTAAATGTTCTTTCCAACAGGGTACTGGAGTCTGGCATTAAAAAGGTTGAGTCTCTCCCAGACACTGACAGCGAACAGAGTTCTGTCAGTAAGGTGGCTGAAGATACAAACCTCTCCCCAATGATCAAACTTGATTCTCCACCAAAGGGAGTTAAAAACAGTGTTCCACATCCATTCCTTCTCACCAGCAAGCTGAATAAACAAGTAGAATCCAAGGGCAGTGCCACGAATGTGGCTGACCTGCCCACCTTTTCACCATCATTGTACCCTCCAAGTGCTTTTAATTATGAGCGCCCTCGCCATTTTATCCAGTCCCTGCCCAGTTTCCACACACATGACACTGAGACCAGCAAGCCAAATGATCTTTGTGTTCCAGCTACAACTCCTGCACCCTTAGTGACCCCTCCTCTTCATGCACCCACTCAGACATTAATGTGTTCCAGCATGACTTTGATTCCT[A/T]AAGCAAGGAGTACTCCAAACAGTGAGAATCTATCACCAGCAGCTTTCCTATCATCAGTCCTGCCTTCACCTCCAAGCTGCCAGTCAAAATGCCTTTCCATACCTCAATCACCCAGGCACTCCTCTAGATCACCCAGCCCAACACAAAAGGTCCAAGAACCACCCCTATCTCCTTCAAATCAGTTACGGAATCTCCCTGCCCGGATACCTCCAGATACATTGAAAACTACAGCTCGATCTCTGCAGTCTTCACCTGTGCCCCATATTACATATACATCCAACATGTAAGTATTATCACTCAAATGACTACTCTAAAACAATGTTACGTATGATATGGTACAACCAGACCCTTTAGAAGGTCTGAACTCTATCACAAATGTAATTGTCTAAAGGCCACACGAGTAGCCATATTACTGATATTCATTCATTCATTCATTTTCTTTTCGAATTAGTCCCTTTATTATTCTGGGGTCATTACAGTAGAATGAAGCGCCAACTTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22435
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115101 Nonsense 423 653 7 11
Genomic Location (Zv9):
Chromosome 14 (position 12487618)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 11923391
GRCz11 14 12229405
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTACAGAAGCCTCTACCATCCAAGAGAAATGTTTTGCTCCTCGTTTTATA[C/T]AAGTGCCTCAAGATGTTACTGTTGAAGAGGGACGATTCTGCAGGATTGAT
Long Flanking Sequence:
ACATGCGGTACAGGTTAATTGGGTAGGCTAAATTGTCCATAGTGTATGAGTGTGAATGGATGTTTCCAGAGATGGGTTGCAGCTGAAATAGCATCCGCTGCATAAAACGTGCAGGATAAGTTGGCGATTCATTCTGCTGTGGCAACCCCAGATTAATAAAGGGACTAAGCCGAAAAGAAAATAAATGAATGAATGAAATTTAGTCTTTCAAATTCAAAACTGTAAGAAAAGCAATAGAGTGCAGATTAACAATCTCCTGTTAAGGGGGTAAATAATTTTGAAAACTCAAAATGTGTATCTAAGCTAAGCATATAAAATAGTTCAGATATAAGCAAGATATTGGTATATTTGTCATTTTGATTAAGTAAATTAGATTTTATTTTTTGGTTTCATTCACTTATTTCCATTTTTTCTTGTGTAGGTCAAGAAAAAAACGATCAGGGGGGGACAGTACAGAAGCCTCTACCATCCAAGAGAAATGTTTTGCTCCTCGTTTTATA[C/T]AAGTGCCTCAAGATGTTACTGTTGAAGAGGGACGATTCTGCAGGATTGATTTTAAGGCAGTTATCATTCTTTTTACTAATATAATAATATCACCTCTATGCATATATCTTAACTGCAGTGTTTGCAAGATATGCAACATCTCACTGCAACGTTCCTGCTCTTATAAGTATATGTCCTTGAGTACATTTTTTATTTAATTGCCTGAAAATGTAGTTTTTTAATATATAAAATATATAATATAGCATTTTTGCTTTTCTTCTTTTTTCTGCAGGTTGTAGGTTTGCCAACCCCAGATATATCTTGGTATCTGGATGGGAAACCCATTCGACCTGATGACTATCATAAGATGCTGGTGTGTGAGAAAAGTGTCCACTCCTTCATTATTGAGATTGTAACCATTCATCATGCGGGTTTATATGAATGTATTGCAAAGAACCGTGCTGGACAGAGCCAATTCTCCCTACATTTGGATGTGATTGGTAAACAGTTTTTTTTCCCCA
Associated Phenotype:
Not determined