ZMP
MTMR14
Ensembl ID:
Description:
myotubularin related protein 14 [Source:HGNC Symbol;Acc:26190]
Human Orthologue:
MTMR14
Human Description:
myotubularin related protein 14 [Source:HGNC Symbol;Acc:26190]
Mouse Orthologue:
Mtmr14
Mouse Description:
myotubularin related protein 14 Gene [Source:MGI Symbol;Acc:MGI:1916075]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33865 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa33865
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083085 | Essential Splice Site | 116 | 630 | 3 | 19 |
Genomic Location (Zv9):
Chromosome 6 (position 23404238)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 19659684 |
| GRCz11 | 6 | 21719906 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGTTGTAGAGGAAGATTTGTCTGCCCTGTCATCCTCTACAATGGAAAG[G/A]TAACTATCTTGTCGCCCCAATTCAATTTTCACTGCAGTATTTGCAACATA
Long Flanking Sequence:
AAAAGGGGGCTAATAATTCTGACCTCAAGTGTATATGCACAAATACAATACATTTTTAAAAATATAAAAAATATTCCTATAGAAATATTACATTTTTAATAGGAATTTTAAAAATATTCCTATTAAAAATATGAATGTAAAAGATAGATTTGTGAGGGGTGTACTCATATATGCTGAGCATTGTATACATCCTATCGTTCTAAAACTACAAATCATAATCTGAAGACATGTTTTTGGTATAAGGTGTATGCTTATATTATGACTATTTTTTATTGTACAAGTGGGCAAAATTCTTGACTGATCTTGTAAACAAATGGTAAAATATCAGCTGATATGCTGGTCTCTCACTAGTTAAAAAAAAACTCCCTTTTTCTTATTTTTCCTCCCCCAGTTTTGAGAGTACAGTGCAGATCAGTAAGCTGCAGGATCTGGTGAATCGCAGTAAAATGGCTCGTTGTAGAGGAAGATTTGTCTGCCCTGTCATCCTCTACAATGGAAAG[G/A]TAACTATCTTGTCGCCCCAATTCAATTTTCACTGCAGTATTTGCAACATAGTATCGCTTTAGACCGCCAGATGCTTTCTATTGCTTTGCATTGCTGATGTAATAAACTGCTGATATTTTTGTCGGACATGCCCATAAAATATATTGATAGATAATTCACAGAATCAATAACAGATTGAATCTTTTCTTGTGAAATCTGGCTGTCGGGATTCTTTAGTACTGAAGTGTTGAGTTCTGGACTCAGCCTTTGAATTTAAAGGTTGGTATAATTTACTGGGAGATTCAAAGCAGTTTCCAGTCTCCTCTGTAGTTAGCTTTTCCAGGGGCACTTTTTTCAGATTTGTGGTTTTGTTTTGGCAGCCCTAAACTCTTATTATTACTCTTGTGTTGTAGCATGTGTGTCGATCCTCTACACTAGCCGGTTGGGGTGAACTTTATGGACGCACTGGATACAATTACATTTTTTCAGGTACACTTTCAGCTCTGTGTTGTTTTCCTCTT
Associated Phenotype:
Not determined