ZMP
mtmr1a
Ensembl ID:
ZFIN ID:
Description:
myotubularin related protein 1a [Source:RefSeq peptide;Acc:NP_001018557]
Human Orthologue:
MTMR1
Human Description:
myotubularin related protein 1 [Source:HGNC Symbol;Acc:7449]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa1365 | Nonsense | Available for shipment | Available now |
sa20936 | Splice Site, Nonsense | Available for shipment | Available now |
sa20937 | Nonsense | Available for shipment | Available now |
sa10980 | Nonsense | Available for shipment | Available now |
sa20938 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa1365
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 |
---|---|---|---|---|---|
ENSDART00000079218 | Nonsense | 87 | 683 | 3 | 16 |
ENSDART00000100369 | None | None | 505 | None | 13 |
Genomic Location (Zv9):
Chromosome 7 (position 26987242)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 25590181 |
GRCz11 | 7 | 25861374 |
KASP Assay ID:
554-1277.1 (used for ordering genotyping assays)
KASP Sequence:
GTTTGTCTTGCGGATGATGCTCAGTCTCAGGACTCTGGTGAAGATGGCTG[T/A]CAGTTTGACAGTGATTGTGAACTGCCGTCTCACACTTCGGCAAGTTTCTC
Long Flanking Sequence:
CGAAATAAAATAATACCTAAAAATATCTTGACATTTTTTGTTCAGATTCAGTCTAATCTTTGTCTGTGTGTTTGTATAGTGTTCTCACGTGTTCATGAAAGTGTGTGTTTGTGTGTGTGTTTGTAACTCATGTTTGTCTGATGTTTATGTGTGATCTCCAGGTATCCAAGAGGCCAAATTTCAGGGTAAGGCTCCAGAATCTACCATTAGCACAGATCTACTAGTGTAGTAGTGATGGTTGAGCAGCTGTATGCTTTCTGTTTTCTCTCTGCCTCTTCAAATCACACTTCCTGTCTCTGTGTGAGGATTTGACCTCTTGGCCCTAAAGAGGAGCTAATATTTTCTGCATTCTTTCCCATTCCTTTTTCCAAAACTGATGCTGGAACTTTTTTAACAGTCCTTGTCTTTCTCCTGTGTTTCTTCTTTTCTTCTGCTCCTCATGGGTTCTGTGTTTGTCTTGCGGATGATGCTCAGTCTCAGGACTCTGGTGAAGATGGCTG[T/A]CAGTTTGACAGTGATTGTGAACTGCCGTCTCACACTTCGGCAAGTTTCTCTGGCTTTAAACTTACTCTAACTCTACTCTTTTTTTCTGCTTTACTGCCAACTACCTGGTTTATGATTTAAAAATGTTTTGTGTTTTATGATGCAAAATAGATTTTATGTGATTGATAAAAATGCAATCAGTGGCCACCACCATTTTGAGAGCCTAAAAAATCATATAGAGGCAAAACAAAATTAATTTTTTCTTGATGCTCCTGATGATACATTGAGGTCATATGGAGCAAAGCCAGTCTATGCAAGAAACTAAATATCACAGCAGTTTTACTTTAAAGTAAAGTAGCACGATAAAGTCCTTGAGTGTTCACGACTGTCACATACTGATGTTCTGCACATTTGAGTACAAACTAGTTTTAACAGGAGCCATGGGTGTTAATGTAGTTTTGCTTTTAAACAGTTGAAGACAAAATTATTAATCCTACTGCTAAATTAGTTTCTTTTTTAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20936
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 > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079218 | Splice Site, Nonsense | 101 | 683 | 4 | 16 |
ENSDART00000100369 | None | None | 505 | None | 13 |
Genomic Location (Zv9):
Chromosome 7 (position 26989141)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 25592080 |
GRCz11 | 7 | 25863273 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTCCAGCACTTCTCAAAAGAACATTCTGTGTTGTTTTTATGTTTCATAG[C/T]AAGTATTCAGGGATGTACGACGGCCGGCCCCAATGGATGAAGTCCCATTG
Long Flanking Sequence:
AATGAATGGGGTAAGATGGTGGAGGAGACATTGAGGATGAATCCAAAGAATCTTGAACTCTGGGAGTCCTGCAAGAACGCTTGCTTTATTATTTGAGGCATTGCCGAGATGTATGGATGCAGTGCATTAATTAGACCTGTATTAATTCTTTTTCCACTGCACCATGACTTTATATTCTATAATGTACATTATTATTACAAGTTATTATTTGTTGTTTCTAAAACTTGGATAGACGACAAGACTTTTATCAGGTAGAGAACATAATATATACATTATATTTCATTAGTTATTTTGCAGCATACTAGTATTCAGCTTACAGTGCAGTTTAAAGACTTAATTGAATGGGTTAGTTAAACAAGTCACTAGACAACAGAGTTTTTTTTGTTCTGTAGTCGATCAAAAAAAAAAACATTCTTAAAGGGTAATATGTGTGTGTGTGTACATATTATAAGTCCAGCACTTCTCAAAAGAACATTCTGTGTTGTTTTTATGTTTCATAG[C/T]AAGTATTCAGGGATGTACGACGGCCGGCCCCAATGGATGAAGTCCCATTGGTCCCTGGAGAGACAATCAAAACCACCGGTATGTTGGATGAGTCTCTGTGACTCTTGTTTCCTGTTTCTGCTTGTCTGGTGGTGTTGGGTTCCATCTGTTATCTTCTGTCTCTGCAGTTAAAGATGTGATGTATATCTGTCCTTTCACTGGAGCCGTGACCGGCACACTCACTATCACAGACTACAAGCTCTACTTTGTCAGTCTAGAGCGGGTACGGAGCAGAAATCATTCTTTTGTTCTCTTTGTCTATTTTAAGATCAGCATATTGACTTGTGTTTTACTCCATTCATCTTTTTGCAGGATGCACCTTTTATTTTGGATGTGAATCTGGGTGCAATCAGCAGGTTGGAGACTATCAGTGTACAGAGTCTTGGAGAGAATACCAGTGGCATGGAGATCGTCTGCAAGGTCAGAGGCACCACTTTTAATAATAGACAGAGATTATGGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20937
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079218 | Nonsense | 107 | 683 | 4 | 16 |
ENSDART00000100369 | None | None | 505 | None | 13 |
Genomic Location (Zv9):
Chromosome 7 (position 26989159)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 25592098 |
GRCz11 | 7 | 25863291 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAACATTCTGTGTTGTTTTTATGTTTCATAGCAAGTATTCAGGGATGTA[C/T]GACGGCCGGCCCCAATGGATGAAGTCCCATTGGTCCCTGGAGAGACAATC
Long Flanking Sequence:
GTGGAGGAGACATTGAGGATGAATCCAAAGAATCTTGAACTCTGGGAGTCCTGCAAGAACGCTTGCTTTATTATTTGAGGCATTGCCGAGATGTATGGATGCAGTGCATTAATTAGACCTGTATTAATTCTTTTTCCACTGCACCATGACTTTATATTCTATAATGTACATTATTATTACAAGTTATTATTTGTTGTTTCTAAAACTTGGATAGACGACAAGACTTTTATCAGGTAGAGAACATAATATATACATTATATTTCATTAGTTATTTTGCAGCATACTAGTATTCAGCTTACAGTGCAGTTTAAAGACTTAATTGAATGGGTTAGTTAAACAAGTCACTAGACAACAGAGTTTTTTTTGTTCTGTAGTCGATCAAAAAAAAAAACATTCTTAAAGGGTAATATGTGTGTGTGTGTACATATTATAAGTCCAGCACTTCTCAAAAGAACATTCTGTGTTGTTTTTATGTTTCATAGCAAGTATTCAGGGATGTA[C/T]GACGGCCGGCCCCAATGGATGAAGTCCCATTGGTCCCTGGAGAGACAATCAAAACCACCGGTATGTTGGATGAGTCTCTGTGACTCTTGTTTCCTGTTTCTGCTTGTCTGGTGGTGTTGGGTTCCATCTGTTATCTTCTGTCTCTGCAGTTAAAGATGTGATGTATATCTGTCCTTTCACTGGAGCCGTGACCGGCACACTCACTATCACAGACTACAAGCTCTACTTTGTCAGTCTAGAGCGGGTACGGAGCAGAAATCATTCTTTTGTTCTCTTTGTCTATTTTAAGATCAGCATATTGACTTGTGTTTTACTCCATTCATCTTTTTGCAGGATGCACCTTTTATTTTGGATGTGAATCTGGGTGCAATCAGCAGGTTGGAGACTATCAGTGTACAGAGTCTTGGAGAGAATACCAGTGGCATGGAGATCGTCTGCAAGGTCAGAGGCACCACTTTTAATAATAGACAGAGATTATGGTAGATTATATTCAGTGCATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10980
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 |
---|---|---|---|---|---|
ENSDART00000079218 | Nonsense | 134 | 683 | 5 | 16 |
ENSDART00000100369 | Nonsense | 11 | 505 | 2 | 13 |
Genomic Location (Zv9):
Chromosome 7 (position 26989331)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 25592270 |
GRCz11 | 7 | 25863463 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCCATCTGTTATCTTCTGTCTCTGCAGTTAAAGATGTGATGTATATCTG[T/A]CCTTTCACTGGAGCCGTGACCGGCACACTCACWATCACAGACTACAAGCT
Long Flanking Sequence:
ATTATTACAAGTTATTATTTGTTGTTTCTAAAACTTGGATAGACGACAAGACTTTTATCAGGTAGAGAACATAATATATACATTATATTTCATTAGTTATTTTGCAGCATACTAGTATTCAGCTTACAGTGCAGTTTAAAGACTTAATTGAATGGGTTAGTTAAACAAGTCACTAGACAACAGAGTTTTTTTTGTTCTGTAGTCGATCAAAAAAAAAAACATTCTTAAAGGGTAATATGTGTGTGTGTGTACATATTATAAGTCCAGCACTTCTCAAAAGAACATTCTGTGTTGTTTTTATGTTTCATAGCAAGTATTCAGGGATGTACGACGGCCGGCCCCAATGGATGAAGTCCCATTGGTCCCTGGAGAGACAATCAAAACCACCGGTATGTTGGATGAGTCTCTGTGACTCTTGTTTCCTGTTTCTGCTTGTCTGGTGGTGTTGGGTTCCATCTGTTATCTTCTGTCTCTGCAGTTAAAGATGTGATGTATATCTG[T/A]CCTTTCACTGGAGCCGTGACCGGCACACTCACTATCACAGACTACAAGCTCTACTTTGTCAGTCTAGAGCGGGTACGGAGCAGAAATCATTCTTTTGTTCTCTTTGTCTATTTTAAGATCAGCATATTGACTTGTGTTTTACTCCATTCATCTTTTTGCAGGATGCACCTTTTATTTTGGATGTGAATCTGGGTGCAATCAGCAGGTTGGAGACTATCAGTGTACAGAGTCTTGGAGAGAATACCAGTGGCATGGAGATCGTCTGCAAGGTCAGAGGCACCACTTTTAATAATAGACAGAGATTATGGTAGATTATATTCAGTGCATACTAGGGATTGTAATTTATGGTTCGGTGTAACAACAGCTTTAACCCAAAAATGACTGGAGTGTCAGATGAAGATGTCAGAGATTCAATCAAAGACAGTTTACTGAAGATAGTTTGCAGTTTCATCAGCAGAGTCCGTAGGCTGCTCTGCTTACAATTTCAAAACAACAATTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20938
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079218 | Essential Splice Site | 256 | 683 | 8 | 16 |
ENSDART00000100369 | Essential Splice Site | 133 | 505 | 5 | 13 |
Genomic Location (Zv9):
Chromosome 7 (position 26993125)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 25596064 |
GRCz11 | 7 | 25867257 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAGGATGGATGGAAGGTTTATGATCCAGTGGCCGAGTATAAAAGAATGG[T/A]GAGACATGCACATTGCTGAAAAACAGTAGAGTTGACTGAATACATTGAAT
Long Flanking Sequence:
TAATTCTATAGTGTCATCTACTAACACATTGCTGTAATAATAATGCTGCAACTGAAAACAGAGCCCATAATAAGGCATTCAAATTCATAATCATAATTAAGACCTCACTAAAAGTTCATATAAAATTTGATGAATATATAAGCTATTATAAATATTTATAGTCACACAGTCTCTATATTAACAATCTGTGATCTGTCTCAATAGGATATGAGGAGCCCCAGGTTTGCTTATAAAAAGGAGGAACAGAGTAAACTGGAGATTTTGGAAACGTTGACAAAGTATGCCTTCCCGCTGTCCAATGAGTTGGTATGTCATGAATCCACACAGTGCAGTGATTGGCTGCTAGATCTGTCAGTAATTGACTAATTACTCCAGAGCAGCTGGTTCATGCTTTTTGTTTTTGTTTTTTGTCCAGTCCCTGTTTGCCTTCCAATACAAAGAGCAGTTTCCAGAGGATGGATGGAAGGTTTATGATCCAGTGGCCGAGTATAAAAGAATGG[T/A]GAGACATGCACATTGCTGAAAAACAGTAGAGTTGACTGAATACATTGAATCAGAATAATAATGCTTCATTCTGCTTTCGTGACCTTTACTTTTTATTGTCTCCATACTGTCTGCAGGGTTTACCGAATGAGAGCTGGAGTATCAGTAAGATCAACAGTAATTATGAAGTGTGTGACACTTATCCTGCTCTGCTCGTCACCCCAACCAGTATTAAGGAGGACGAGATTCGACGAGTGGCCTCTTTTAGAGTCAAACACCGTATCCCAGTAAGTAAGAAGAAGTGTGCATCTGTGCTTTTCCACTTTTTTTTTATTTTACACATTCAGTCAAGTGTTGTCAGCACTTCATGTTAATTACACATCTGACAATAAACCCATCTGGGGAAATGAACAGAGCGCAACAGTTGGGTTCTAGAAGTAAAAACATGAATTTTTCTATAAATTGTTGTGAGCTTGAGGTTGTTAATTGATTATAATATGATCATTGAATCCATCTGTTTG
Associated Phenotype:
Not determined