ZMP
mtmr2
Ensembl ID:
ZFIN ID:
Description:
Myotubularin-related protein 2 [Source:UniProtKB/Swiss-Prot;Acc:A0JMK5]
Human Orthologue:
MTMR2
Human Description:
myotubularin related protein 2 [Source:HGNC Symbol;Acc:7450]
Mouse Orthologue:
Mtmr2
Mouse Description:
myotubularin related protein 2 Gene [Source:MGI Symbol;Acc:MGI:1924366]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38467 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa7329 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa26459 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa26458 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa38466 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa38467
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 |
|---|---|---|---|---|---|
| ENSDART00000020004 | Essential Splice Site | 131 | 620 | 6 | 16 |
| ENSDART00000122563 | Essential Splice Site | 82 | 568 | 3 | 13 |
Genomic Location (Zv9):
Chromosome 5 (position 25287169)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 23114434 |
| GRCz11 | 5 | 23618234 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGGAGCAGCAACAGGCAGAGGAGACGTCTCGTATGGCTTGGCATGCAAG[G/A]TCTTTGTGATTTTCACATGTAATATGTGTTAAAATGTATTTTTTTTTATC
Long Flanking Sequence:
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCAGATGTACAAAGACCCAAGTAAAGGCGAACTTCCTCTTCTGCCTGTGGAACTGGTTCAGGAGTCCGGTATTTTGCTACATTATACTGACTACTTTTTATCAGCAGTTCTGATGATTTGAGTGCTGTGTGTGTTTAAATTGTGTGTGTGTGTGTGTTTACAGCTAAAGACGTGACATACATTTGTCCATTCATTGGGCCTATTAGAGGGAGTCTGACCGTCACTAACTACAGACTGTTCTTCAGATGCACTGACAGGGTAAGAGACAAGCACGCATGCTGTTTATTTATGACATCTGAAGAGTATTTTTTTTAAATTGGCTTAATTTTTAATCTCTATATATGTGTATAGGAGCCAGTGTTTGGGTTAGATCTTCCCCTGGGAGTATTGAGCCGAGTAGAGAAGATCGGAGCAGCAACAGGCAGAGGAGACGTCTCGTATGGCTTGGCATGCAAG[G/A]TCTTTGTGATTTTCACATGTAATATGTGTTAAAATGTATTTTTTTTTATCAAAACAAGTGTAAAAATTGCTCCTAACTGAAATAAAATGTATTTATTTATTAAAACTAAATAAAAAAATCTATAAAAAATGAACTCAATTTTAAAAAACTACAGTTAAACGGACACCTGAAAGTATAAAATAAATGTATAATATGATTTATGACTTTATTAATGTGTAATAATAATAAAAAAATAAATAAAAGTGAGCAAATAAACTGTTGTGGCCTGATACATCATTGCATGATAGCTAAGTGTGTATATATATGTGTCTTGTAGGATATGAGAAACCTGCGTTTTGTACACAAAGAGCCTGACGACTCGCTAAAGAAATCAGTGTTTGAGGTCCTGATGAAGTTTGCTTTTCCAGTGTCAAACAACATGGTGAGAAAAATAGACAAATTATATAAGTTACTACACTATATAAACAATAAACCCTGCTGATTCAGCATTAGAATTCATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7329
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000020004 | Nonsense | 262 | 620 | 10 | 16 |
| ENSDART00000122563 | Nonsense | 210 | 568 | 7 | 13 |
Genomic Location (Zv9):
Chromosome 5 (position 25284922)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 23112187 |
| GRCz11 | 5 | 23615987 |
KASP Assay ID:
554-4207.1 (used for ordering genotyping assays)
KASP Sequence:
TGCTTTCATGGATCCAYCCKGAGAGTCAGGCTGCGGTGGTTCGCTCCAGT[C/T]AGCCAATGGTGGGCCAGAAYGGACGACGCTGCAAAGAGGATGAGAAGCTC
Long Flanking Sequence:
TCAAATATTTTTTAAAGCACCTCACTGTACCAATATTAAATAATAAAAATATCAACAACATTAAATAATAAGATTATTAATGCTTATCTTTAGCTCATTCAATATTTGTAAAATAAGAAGATGGTGTTATATACATCCAACACAGCTAAATCATCAGCATCACTTTACAAAAAAATTATTCATCTGTCTTAAATACAACTGTGTGTGTGTAGGGTCTCCCGAATGAGAGCTGGAGGATCTCCAAATTAAATGATCACTATGAGCTGTGTGATTCGTACCCAGCGACTCTAGTTGTGCCAGTAACCATCACTGACGATGAACTGCGCCGTGTCTCCAGCTTCAGGGCCAAAGGACGCATTCCAGTCAGTGTCATTAAGCATTTCTGATTGTTCTCGTTTCAGTCTGTGTATGATATTCTTCATCCTCACTGCTGGCTCATTATACTCTAGGTGCTTTCATGGATCCATCCTGAGAGTCAGGCTGCGGTGGTTCGCTCCAGT[C/T]AGCCAATGGTGGGCCAGAACGGACGACGCTGCAAAGAGGATGAGAAGCTCCTTCAGGCCATCATGGATGCAAACGCGCAGTCGCACAAACTGTTCATATTCGACGCCAGGCCCAGTGTGAATGCTGCAGCAAACAAGGTAAACAGTCAGTTTCTTTCCAAAATGTGTTTTGGATGAAAGTGAAACTTTGAGTGACAGCTTCTGCATGTGTTTCAGATGAAAGGAGGTGGGTTTGAGAGTGAAGATGCTTATCAGAATGCTGAGCTGGTGTTTCTGGATATCCATAACATTCATGTTATGCGCGAGTCACTGCGAAAACTTAAGGAGGTCGTCTATCCAAACATCGAGGAATCCCATTGGCTGTCCAACCTCGAGTCCACACACTGGCTGGAGCATATAAAGGTGTGACTAAAGGGATCTCTTCATTACGTTTCTCTTATACTAAAGGAAAACTTACTCACCATTCCAAATAAACACAAAATAAGTTATTTTGAAGAATGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26459
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000020004 | Essential Splice Site | 507 | 620 | 14 | 16 |
| ENSDART00000122563 | Essential Splice Site | 455 | 568 | 11 | 13 |
Genomic Location (Zv9):
Chromosome 5 (position 25282032)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 23109297 |
| GRCz11 | 5 | 23613097 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTATTTGGCACGTTTCTGTGTAACAGTGAACAGCAAAGACTCAAAGAAG[T/A]AAGTGCAAACGTACTATTGGACATATCTGCAATAGGAACATCAAAGCATT
Long Flanking Sequence:
GCCATTCAAACTGAAGATTCTGATTAGGGTTAAAACCAGCACAACAAAATAGTCAAATTACTTTTACATTTAGATGCAACATTCTTGATAATTTTACCCTTTTAGTAAATCTCAGAGAACAGTACATGAACAGTAGTTCATGACCCCTCTGTTTGTTCATTGTCAATAATTGTTTTATTGCTTGTTTGGCCTCATTTGTGTGTATAGCGAGTGGGTCACGGTGATAAAAATCACACAGATGTAGATCGCTCTCCAATCTTCCTGCAGTTCATTGACTGTGTGTGGCAGATGACAAGACAGGTGAGTTTAACAGAGCAACACCTCTTTTCAATGTATTGATATGGTCTGATCTGCAAAAGTAACAAGTGTTTATCTCTGTGTTTAGTTTCCAGCAGCTTTTGAGTTCAATGAGTATTTCCTCATTACAATACTGGATCACCTCTACAGCTGCCTATTTGGCACGTTTCTGTGTAACAGTGAACAGCAAAGACTCAAAGAAG[T/A]AAGTGCAAACGTACTATTGGACATATCTGCAATAGGAACATCAAAGCATTATTTTAGTATCTAGCATTGATGTAATATTCTAGATTATTTAATAGTTAATAGTTCCCCGTTTTACTCTTATAATGTTAGCATTTTAGTATTTTGTGTTTTGACAATTGCTTTGGTAATTTTAATGTGTACATGAATGTGCGTGCGTGCGTGCGTGCGTGCGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATATATATATATATATATATATACACACACACACACACATTTCAGATGTAATGGATCACGGTTGATCCGTGCTTCGTACAGATCTCAACCCATGGTTCAGAACCCGCAGATTCTTTACTAGTAGATTAATTGTAAATTTGTAACGATTACAAAAAGATTGCCTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26458
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 |
|---|---|---|---|---|---|
| ENSDART00000020004 | Nonsense | 524 | 620 | 15 | 16 |
| ENSDART00000122563 | Nonsense | 472 | 568 | 12 | 13 |
Genomic Location (Zv9):
Chromosome 5 (position 25280407)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 23107672 |
| GRCz11 | 5 | 23611472 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGAAATCCCGAAGCGCACTGTCTCTCTCTGGTCATTTGTGAACAGTCAGT[T/A]GGAGGAGTTTGTGAATCCGCTGTACGTGCACTACTCTTCTCATGTGCTGT
Long Flanking Sequence:
AGCAAATGACATTTGTCTTCTCCCCTTTTTGGCTGATCCGAAAAATGGTTCGATCCATGACTAAAATTCTTATGTGATCCGAACCATGAGATTTGTGATGCGTTACATCACTAATATATATGTATATGTGTGTGTGTTTAACATTATTTTTTATTTCAGTTAATGTTTATTTTTTATTATTTGTTGTTTATTTATAGATTATATGTTTATCTGACTGATCATTTGGTAAATGCTTTATAAACTTAACCTTATTTTTCTTAATCTTTTTAATTGTGTTTTGAGCATTTTTTGGTTAATATATTTAAATTTTAAATATATTTCTATTAAAATGTCTGTCATATTTAAGCATGGTCACTGAATTAAGATATTTAACAAAGTGTACTAAACGCTAAATGTAAAAGCAGGAAATGAATGTGTATTGGTCTAAGGGAATGTCTGTCTTTGTCTTTAGGAAATCCCGAAGCGCACTGTCTCTCTCTGGTCATTTGTGAACAGTCAGT[T/A]GGAGGAGTTTGTGAATCCGCTGTACGTGCACTACTCTTCTCATGTGCTGTTCCCCACTGTGGGTATTCGACACCTGCAGCTATGGGTCTCCTACTACATACGCTGGAATCCTCGTATGCGGCCACAGGTACACACATGTGAACAGATGTTTTAACAGGAACAGATCATTAAACCCAGCATTTCTTTAGCTTGTGTCCATAAATAGTAGCATACACTTTTAGGGCTTTTAAATGAGTAATTTTAATAAATTGCATTCACAATAAAATTATATTTTAGTGTATGTAATGTATATTTATTTATGTGTGTGTGTATAGGTATGTATATGTGCATATGTGTGTGTGTATGTAAATGCGCTGAAACTACATAATACAAATATAATACTGTGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACATACATACTTACTGTATATATATATATACTGTATATAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38466
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000020004 | Essential Splice Site | 567 | 620 | None | 16 |
| ENSDART00000122563 | Essential Splice Site | 515 | 568 | None | 13 |
Genomic Location (Zv9):
Chromosome 5 (position 25277272)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 23104537 |
| GRCz11 | 5 | 23608337 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTGTGTTGTCTGTCCCTGGTATTGAAAGTGTGATTTACAACTGCGTTTT[A/G]GGAGCCTGTCCATCAGCGCTACAAAGAGCTGCTAGCGAAGCGTGCAGAGC
Long Flanking Sequence:
GGAATAAAAACTGGTCAAACTCAACTTTTTTACTCTAAGGTTATTAAAAAAGTTGTAAAATGAGGCTATTTCCAAAACTAAAGTAGAGTGTTCCATTATTTTTCTGTTGCCTGCATATGTTGTTTTAACCATTAATTCACAATGATATATGAATCACTAAGCACCAGTTTCTGCTAAAGATTCACCTACATTAGAGGTGTCCAAACTCGGTGCTGGAGGTCTGGTGTCCTGCAGATTTTAGCTCCAACTTGCCTCAACACACCTGCAAGGATGTTTCTAGAAAGCCTAGTAAGAGCTTGATTAGCTAGCCCAGGTGTGTCTGATTGGGGTTGGAACTAAACTTAGCTGGACTCCTGCCCTCCAGGACCGAGTTTGGGCACCCCTGTCCTACATCTTTGATGAACTGTTGGAACTATGCCTTCATGAACTTTAATAATTAGTTGTAAATGGCTTGTGTTGTCTGTCCCTGGTATTGAAAGTGTGATTTACAACTGCGTTTT[A/G]GGAGCCTGTCCATCAGCGCTACAAAGAGCTGCTAGCGAAGCGTGCAGAGCTTCAGAAGAGAGTTGAGGAGCTGCAGCGTGAGGTGTCCAGCCGAACGGCCTCCTCATCCTCCGAGAGGGCAGGCTCTCCTACACGCTCCATCACCCCGGTGCAAACCTTCGTTTAAGCACTCCACAGACTGATGAATGTAGATCCTTCACACACCACGTGAGCTACACGCGGTTCTCCTGTTACATGCAGTGATGCGCAACTGATGTACATCCACACACTAACATTCACCTCGCTGCTACCAGCTGGCTGGATGGATGATGCTTTTAATCACTAAAACTGTTTGATACTGGTATTATATTAATACATTTATTGAGACTAGGGAAGCATTAATACATGTTAGAAACATTACTCTATAAGCTGTATGTAGTTGAACTCTGCGACTGAGCATCACATGACCAAAGTATTGTGATGTCACTGAGATTCTGCCTGCGTCATCGCGGTGCGGAGGG
Associated Phenotype:
Not determined