ZMP
si:ch73-100n10.1
Ensembl ID:
ZFIN ID:
Human Orthologue:
MTMR3
Human Description:
myotubularin related protein 3 [Source:HGNC Symbol;Acc:7451]
Mouse Orthologue:
Mtmr3
Mouse Description:
myotubularin related protein 3 Gene [Source:MGI Symbol;Acc:MGI:1921552]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa18023 | Nonsense | Available for shipment | Available now |
sa18022 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18023
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000133446 | None | None | 129 | None | 3 |
ENSDART00000139023 | Nonsense | 256 | 278 | 5 | 5 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 4151010)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3894041 |
GRCz11 | 8 | 3950747 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCGTTYGATAACTTGCCCAGTGCTTGTGAAGTKGGAAATCCACTAACAT[C/A]AAATCGACGTTCCAGTGACCCAAGTTTGAATGAGAAATGGCAGGACCAKC
Long Flanking Sequence:
ATTCACATCTGCAGCTTCAGACTTCAGAACAGCAGGAGCTGTTACTATATATACTCTCTCTCTCTCTTTCTCAATTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATATATATATATATATATACACAGTTGAAGTCAGAATTATTAGCCCCCTTTTGATTTTTTTTTTCTCTTTTAAATATTTCCCAAATGATGTTTAACAGAGCAAGAAAATTTTCACAGTATGTCTGATAATATTTTTTCTTCTGGAGAAAGTCCTATTTGTTTTATTTCGACTTGAATAAACGCAGTTTTTAATTTTTTAAAAACTATTTTTGGGACAAAATTATTAGTCCCATTTCAGCTTGACTTTAAATCGCGCTCTTGTTTATGTTTTTTAACAGGCGTCCTAAAACTCGCTCGTTTGATAACTTGCCCAGTGCTTGTGAAGTTGGAAATCCACTAACAT[C/A]AAATCGACGTTCCAGTGACCCAAGTTTGAATGAGAAATGGCAGGACCATCGCAGGTCTCTGGAGCTCAACATTGGGGCTGGGACTGATGGAGCTGCATCTCCAGAACCAGATGAAAGGGTCAACGGACAAACCATGGTGGGGATTATGGGAACATTCTCCAATGGGGGCACAGAGAATGGGGAGGGGCTTAAGGATGTCAGATTGCCAATGATAGATGGGGTTGATGAGGCGGAGCTAACAGTTGGTGTGGCTGTGGGCCAAATGGAGAACATTCTCCAGGAAGCCACGAAAGATGAATCTGCACCTGATACTCGCAGTGTCGCAAAGCCTAATGAAACCTCTGCTGTAAATGGAAAGACTGATGATATTGCACAGGAAGGTAGAACTGAGGACGATCTAGAGAGTAAAAGTCTTGAAGACGGGAATGTCAACGGACATTGTTCGGAAGATGGCAATTCTGAAGCATCGTCAGCTCTCAGCCAGGATACTTCAGAAAGCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18022
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000133446 | Essential Splice Site | 62 | 129 | 1 | 3 |
ENSDART00000139023 | None | None | 278 | None | 5 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 4149751)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 3892782 |
GRCz11 | 8 | 3949488 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACCAGGCTGCTGGGATGCTGCGGCTCAWCGGAGACATCRGAGATGAAGTG[G/A]TGAGCAGTCTTTTTGTTTGTTTNNNNATTTATTTTTCGCAACAAGGGACAGTGT
Long Flanking Sequence:
TCAAACAGGGTCTACGCACAGCAGCCAGAACTTTAAACAACACCCCAAAACGGGCGTCTCTCAGTGCCTTTCCGCCCGCCTCCACTGACCTCCTCCACCCCATGTGTAACGGAGACTCGCCCGATCCCGAGCCCTCCACGCCACGCACAAACGGAGAACGAGCCACACTTAGCCGGCAGGTTTCGCTGGCCAGTTGTGGCTCTCTGACCCTCCATGCACGGGGCACCTGCTCCCACCATCGCTGCCTGCATTTGGGGTTTCTGGGCCGGCCGAGCTTCAGTCCTCCAGAGCCTCCATCATCCTCATCCAGGAGCCATCTGGATGATGATGGGTTGACCCTGCACACGGACGCCATCCAGCAGAGGCTGCGGCAGATCGAGGCAGGACACCAGCTCGAGGTGGAGGCTCTGAAGAGGCAGGTTCAGGAGCTCTGGAGTCGGCTGGAGAGCCACCAGGCTGCTGGGATGCTGCGGCTCAACGGAGACATCGGAGATGAAGTG[G/A]TGAGCAGTCTTTTTGTTTGTTTATTTATTTTTCGCAACAAGGGACAGTGTACATTAATTCAGTGTTTCCCATCCTGTTTCTGAAGAACCATTAACGCTGCACATTTTTAACCTGTCCCATGCAAACACACATGAATCAAATCATCAGAACTGAAGAATCTCAAAAACCTGTAATGAATGGGTAAGATAGGGGAGGCATCTAAAATATGTATGTTGGTGTGCCTCCAGAAACAGGGTGGTAAACACTGCATCAATCAACGGTCCCCAAGAACGTAAACTAACCCAATTTAGCCTAGTTTTCATTGGTGGCTCCTTAGCTATATGTTAAAGGCCATACCAATAAAAATACAAATTCAAACTAAATGCAATACTCAAATGAATAAGAAACAGCAACTATATCAAAACGCCTAGAGTTCACAATGTTGATTATTAAGAAGCCAATGTTGAAGCCATTTCTTAAAATTATACTTAAATGGCTTAAAAGATACATATCGCTAATAG
Associated Phenotype:
Not determined