ZMP
mtmr7b
Ensembl ID:
ZFIN ID:
Description:
myotubularin related protein 7b [Source:RefSeq peptide;Acc:NP_001025297]
Human Orthologue:
MTMR7
Human Description:
myotubularin related protein 7 [Source:HGNC Symbol;Acc:7454]
Mouse Orthologue:
Mtmr7
Mouse Description:
myotubularin related protein 7 Gene [Source:MGI Symbol;Acc:MGI:1891693]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa2007 | Essential Splice Site | F2 line generated | Not yet available |
| sa19458 | Nonsense | Available for shipment | Available now |
| sa32635 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa2007
Status:
F2 line generated
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 |
|---|---|---|---|---|---|
| ENSDART00000127370 | Essential Splice Site | 367 | 568 | 9 | 14 |
Genomic Location (Zv9):
Chromosome 1 (position 15237878)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 15803046 |
| GRCz11 | 1 | 16495983 |
KASP Assay ID:
554-3245.1 (used for ordering genotyping assays)
KASP Sequence:
CTAGTGTACTACTAGATCCCTACTACAGGACTATCAAGGGATTGATGGTA[G/A]TAACTGATATTTGATTCATGCAAGTGTATATGTCTGTGTGSAACAAACAW
Long Flanking Sequence:
TGCTTTCAAGATTAAAAATATAAGAGAAAAAAATACCTAATAATAGGATATAATGGTAAAATACAGGACAATCCCGGCAAAAATAGGAGGGTTGTCATGTATGAAGTAAAATGTTTGTCGAACAACAAATTTGCGAGATAACGCAAAAACTTTCAAAAATATCTTTACCTATCACCCTTTTTTTTTTTTCTCCCACCCATTTTTTTCTCCATCATTACGTTCCTTACGGGTCTCCGTATTTCCCCCACTGTATATATAATGGTCAATATTTTCAGATCTGTCAGGTATTCTAATAATTTTGGCACCGCTGTTAGTTTGAATAGCAGATAACTGACATAATCATGTATTTTTCTGTTTATGTGTGTGTGCAGGCAGTGGCAGAAGATGGAGTTAGTGTTCTCGTTCATTGTTCAGATGGATGGGACAGAACAGCTCAGGCCTGTTCGGTGGCTAGTGTACTACTAGATCCCTACTACAGGACTATCAAGGGATTGATGGTA[G/A]TAACTGATATTTGATTCATGCAAGTGTATATGTCTGTGTGGAACAAACATGCAGCCCTATTTAGTTCCACTTTTGACAATGTTACACAACATTATCATTTTATCAAGGATATTACTGATAATTAATCAAAATTTTAAGTCGGCATGAACAGGAAGCTGCGACAGCTTTTTTTTCACATAAGAATGAAAATGAGAAAACGGTGGACGTGGCTTGTTTTTTTCTACTGCAAGCTGATTGGATGTAGTAAAGTATGCATTACATTCAGAAAGATCAGGAAAAGAGTTCCGATAGAGTTATTACAACCTAATGCTGCATTCATACCAGATGCAGAAGAAGCGTAAAGCGCGAGTGATTTACATGTTAAGTTAATGCAAAGACATCCTGCAGTGCAATACGGGTGAATGAGGTGGCATGAATGGTGTGATTTGCGTGAATAAAGCGGCGCGAGTTGAGTGTTTTGTACGATTGATGCCCTTAAGGAGCAAATTGCTCAAATTGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19458
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000127370 | Nonsense | 385 | 568 | 11 | 14 |
Genomic Location (Zv9):
Chromosome 1 (position 15234498)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 15799666 |
| GRCz11 | 1 | 16492603 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTATTCATATTAATATATGAGCTTTATTAAAATCTTCTACATACAGATA[T/A]GCTCATCTTGACGGCGACCCTAAAGAGGTTTCTCCAGTCATGGACCAATT
Long Flanking Sequence:
TGTTGCCACAAACAACAACAAACACACAATGTTAAACTTAAACTCTGTGTTTAAACCCCTTAAAAGGTGATTTTTGCATGACAGGTCCTCTTTAAGTGAAAGGAATTTGAGAAAAGCCACTTTTGGAATTAAATAAGAGTTATCATTAGAGTGTCTATTTATAATTTGAATGTATGATTAAAATATTTCTGATTACTATTATTGTGGAACAATCAGCCTCTAGAGATTAGAGTGCCCCCTTTCGTATCCATTTTCAAGTCCACTTGTTTGATCTCGCTTAGTAATAATTATCTTGTCATGTCGTCACTCTAGTTTCAGAATACTTTGTATATATCTCTATTAGTATTTTTTAATTCATGTTTAGTCCTCTCTGCTTTGTATATATGGATAGCTTTTTATTGGTCAGCAATTAGTTTTTTTAAACATGCGTTTTAAAAAAATGAACATGAACTTATTCATATTAATATATGAGCTTTATTAAAATCTTCTACATACAGATA[T/A]GCTCATCTTGACGGCGACCCTAAAGAGGTTTCTCCAGTCATGGACCAATTTCTGGAGTGTGTGTGGCAGTTGATGCAGCAGTTCCCCTGTGCGTTTGAGTTCAACGAGCGATTCCTAATACAGCTGCACATGCTCATCTACTCCTGCCAGTACGGGAACTTTATTGGCAACTGCCAGAAAGAACGGAGAGACTTGAAGTAAGAAAAACAACAGCATTTTGCTTGAAGCAGCTGCATGAGCACCTGCAGCTCAGCATGTCAGATCATGTAGGCTAACTGTAGGATACAGCTTGACAGAAGTTTGAACCATCTACTTTTGTTTTAATATAACTACTTTTAATCATGCAATTGGGATAGTTATATAGGTACTATTGGTTTTATAGATGACCAGCACCCATTATTGGCATACTGCCCTTATTCATTTTCCTTCATTAGGGGTCACCACATCAGAATGAACTGCCAACTTTTCAACATATGTTTTAACCAGCGACCTTCTTGCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32635
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000127370 | Nonsense | 452 | 568 | 12 | 14 |
Genomic Location (Zv9):
Chromosome 1 (position 15230714)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 15795882 |
| GRCz11 | 1 | 16488819 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTATACTTTTATTTGTTTGTTTACTCATTCATTTTGCACTGTGCAGGT[T/A]ACAGGAGAGAACACACTCTCTGTGGCCACATCTGTGGGAGAACAGAGCTG
Long Flanking Sequence:
ACCCTGGTTATTAGTGACACCGGTGGCTGCTAAATGAACTGCAGCTAGAACTTATAGAACATGTTTTGAACGTTATTTTCCCAAATAAATAAAAAAGTTCTTTTGTCTTTGATTAGAAGTAAAATGTTTGAAATACTTTGGCAGTGATACACCGATAAACTATTCTGTTGTCTCGTAAAAGCAGAGCATTTCATCCCCTTTATTTAGATGTCTTTTTTTTCATTTTTGGCACTTTTGACCAGAAAAAAAAATCACTAAATTCTTTGCAATATCCATATAACTTTGGTAATGTCAGTTACTTTATATTAATATTAAACACTAACCTTCTACAGCAATTGAGAACTGAGGTTGACATCAGATTTGCTTTTTATAATTGCGGTAAGCCTTTGATGCAGCTCTTTTTTTTTTTTTTTCAAAGAAAAGGTGAAGCAGCTGCTGAATTACCTCGGTTTTTATACTTTTATTTGTTTGTTTACTCATTCATTTTGCACTGTGCAGGT[T/A]ACAGGAGAGAACACACTCTCTGTGGCCACATCTGTGGGAGAACAGAGCTGAATACACCAACCCTCTCTACAGGACAGACCACAGCCAGACACAGGGGGTTCTCAGACCTCTCACCACTGCCTACTGCTTCAAGTAAGTCAAGCTCTTTTTTTATTGGTCATGCTTCTGTAGGAATTAGCTAGAAGAAAATGAGAGGAAGCATGCTAAGTACCAGGAATTAGTGGAGGAGTGCAGGGAGAAAGGCTGGAGAACTTTCTATGAGCCCATAGAAGTAGGATATAGAGGCTTTGAAGGGCGTTCACTTTGCAAAGTCTTCAGTCGTTTGGGAGTTACAGGGGTGGCTAAGAAAAGGACCATTCGATCCGCAAGCAAAGCCGCAGAGAAGGCCACAAGGTGGCTGTGGATTAAGAGGGCGGATCCGTGGACTGCTACTGGGACGCAAGTTGGGACTTGATCCAACCCGGCTGGGTCACCTGGGTGAGAGTGTATGATGTTGAAAG
Associated Phenotype:
Not determined