ZMP
mtmr1b
Ensembl ID:
ZFIN ID:
Description:
myotubularin related protein 1b [Source:RefSeq peptide;Acc:NP_001014352]
Human Orthologue:
MTMR1
Human Description:
myotubularin related protein 1 [Source:HGNC Symbol;Acc:7449]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa12509 | Nonsense | Available for shipment | Available now |
sa23988 | Nonsense | Available for shipment | Available now |
sa16800 | Splice Site, Nonsense | Available for shipment | Available now |
sa23989 | Nonsense | Available for shipment | Available now |
sa13357 | Nonsense | Available for shipment | Available now |
sa32354 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12509
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 |
---|---|---|---|---|---|
ENSDART00000029599 | Nonsense | 176 | 649 | 7 | 16 |
ENSDART00000145123 | Nonsense | 154 | 179 | 6 | 6 |
ENSDART00000147519 | Nonsense | 97 | 263 | 4 | 7 |
The following transcripts of ENSDARG00000022378 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 33065578)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 34065271 |
GRCz11 | 21 | 34099761 |
KASP Assay ID:
2261-5862.1 (used for ordering genotyping assays)
KASP Sequence:
TGAACNTTTTTTTTTCTTCCACAGGACTTGAGAACCCCAYGGTTTGCATA[C/A]AAGAAGGAGGGACAAAGCAATTTGGAAATGTTTAAAATATTGTCAAAGTA
Long Flanking Sequence:
GGTCTGTGTAGTCATGCAAACATTTGTTTGTTGAGCAAGTAGTTTGGCCATTTTCTGCCGTTTATTATTCCTAGTCATTTCTCCCATAGGCGACTGAATCGGAAGTTCTAAGACAATCGCGAAAACAGGCGCACTTCCGCATTTTAGAATATATATATAATTTAACTTTACACCACTGATTGAATTAGTGCTTTAATTCCAGGGTGTTTTTCTAATTCTATTTAGAACAGATTGTTTGGTTACTGCAGCTGTTAATGTTGTTTTCTGTGTTTGAGATAGGATTCTCCATTTGTACTGGATGTTAATCTTGGAGCCGTAAGCAGACTGGAGTCTATCGCGGTTCAGAGTCACGGGGATGACACTCAAGGACTTGAGATAGTCTGCAAGGCAAAGAACAACTTTTCCATTCTTCAATGACTTCATTTAGTCTCCTTCACACACTTTTAAAAATGAACTTTTTTTTTTCTTCCACAGGACTTGAGAACCCCACGGTTTGCATA[C/A]AAGAAGGAGGGACAAAGCAATTTGGAAATGTTTAAAATATTGTCAAAGTATGCGTTCCCGCTTTCCCACAACTTGGTATGACATTTTGAACGTAACATACCAATGTTTCATACACTAGCTTCAGGCTTTTAGTATGTTTAATGATACAGACTCCCTATATTCCTTCAGCCTCTCTTTGCCTTTAAGTACAGAGAGACATTTCCAGAGGATGGATGGAAAATCTACGACCCAGTTGCTGAGTACAAGAGACAGGTAACAACTGTCATGCCCAGTGTTGGGGGTAATGCATTACACGTAACGCGAGTGCCGTAATAATATTACTTTTTAAGTTCAATTCAATTCATCTTTATTTCTATAGCGCTTTTAAAATGTAGATTGTGTCAAAACAGCTTAACATAGAACATTATAGTAAATTAAAACAGTGTCAGTCCAGTTTTAGGTCAGTTCAGTGTGGTTTAATTTTCCAAAAAAGTCCAAACACTGAAGAGCATATCCACCGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23988
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 |
---|---|---|---|---|---|
ENSDART00000029599 | Nonsense | 181 | 649 | 7 | 16 |
ENSDART00000145123 | Nonsense | 159 | 179 | 6 | 6 |
ENSDART00000147519 | Nonsense | 102 | 263 | 4 | 7 |
The following transcripts of ENSDARG00000022378 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 33065591)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 34065284 |
GRCz11 | 21 | 34099774 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTTCCACAGGACTTGAGAACCCCACGGTTTGCATACAAGAAGGAGGGA[C/T]AAAGCAATTTGGAAATGTTTAAAATATTGTCAAAGTATGCGTTCCCGCTT
Long Flanking Sequence:
ATGCAAACATTTGTTTGTTGAGCAAGTAGTTTGGCCATTTTCTGCCGTTTATTATTCCTAGTCATTTCTCCCATAGGCGACTGAATCGGAAGTTCTAAGACAATCGCGAAAACAGGCGCACTTCCGCATTTTAGAATATATATATAATTTAACTTTACACCACTGATTGAATTAGTGCTTTAATTCCAGGGTGTTTTTCTAATTCTATTTAGAACAGATTGTTTGGTTACTGCAGCTGTTAATGTTGTTTTCTGTGTTTGAGATAGGATTCTCCATTTGTACTGGATGTTAATCTTGGAGCCGTAAGCAGACTGGAGTCTATCGCGGTTCAGAGTCACGGGGATGACACTCAAGGACTTGAGATAGTCTGCAAGGCAAAGAACAACTTTTCCATTCTTCAATGACTTCATTTAGTCTCCTTCACACACTTTTAAAAATGAACTTTTTTTTTTCTTCCACAGGACTTGAGAACCCCACGGTTTGCATACAAGAAGGAGGGA[C/T]AAAGCAATTTGGAAATGTTTAAAATATTGTCAAAGTATGCGTTCCCGCTTTCCCACAACTTGGTATGACATTTTGAACGTAACATACCAATGTTTCATACACTAGCTTCAGGCTTTTAGTATGTTTAATGATACAGACTCCCTATATTCCTTCAGCCTCTCTTTGCCTTTAAGTACAGAGAGACATTTCCAGAGGATGGATGGAAAATCTACGACCCAGTTGCTGAGTACAAGAGACAGGTAACAACTGTCATGCCCAGTGTTGGGGGTAATGCATTACACGTAACGCGAGTGCCGTAATAATATTACTTTTTAAGTTCAATTCAATTCATCTTTATTTCTATAGCGCTTTTAAAATGTAGATTGTGTCAAAACAGCTTAACATAGAACATTATAGTAAATTAAAACAGTGTCAGTCCAGTTTTAGGTCAGTTCAGTGTGGTTTAATTTTCCAAAAAAGTCCAAACACTGAAGAGCATATCCACCGATGCGCAGCTCCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16800
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 |
---|---|---|---|---|---|
ENSDART00000029599 | Splice Site, Nonsense | 229 | 649 | 8 | 16 |
ENSDART00000145123 | None | None | 179 | None | 6 |
ENSDART00000147519 | Splice Site, Nonsense | 150 | 263 | 5 | 7 |
The following transcripts of ENSDARG00000022378 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 33065828)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 34065521 |
GRCz11 | 21 | 34100011 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCCAGAGGATGGATGGAAAATYTACGACCCAGTTGCTGAGTACAAGAGA[C/T]AGGTAACAACTGTCATGCCCAGTGTTGGGGGTAATGCATTACACGTAACG
Long Flanking Sequence:
GTTAATGTTGTTTTCTGTGTTTGAGATAGGATTCTCCATTTGTACTGGATGTTAATCTTGGAGCCGTAAGCAGACTGGAGTCTATCGCGGTTCAGAGTCACGGGGATGACACTCAAGGACTTGAGATAGTCTGCAAGGCAAAGAACAACTTTTCCATTCTTCAATGACTTCATTTAGTCTCCTTCACACACTTTTAAAAATGAACTTTTTTTTTTCTTCCACAGGACTTGAGAACCCCACGGTTTGCATACAAGAAGGAGGGACAAAGCAATTTGGAAATGTTTAAAATATTGTCAAAGTATGCGTTCCCGCTTTCCCACAACTTGGTATGACATTTTGAACGTAACATACCAATGTTTCATACACTAGCTTCAGGCTTTTAGTATGTTTAATGATACAGACTCCCTATATTCCTTCAGCCTCTCTTTGCCTTTAAGTACAGAGAGACATTTCCAGAGGATGGATGGAAAATCTACGACCCAGTTGCTGAGTACAAGAGA[C/T]AGGTAACAACTGTCATGCCCAGTGTTGGGGGTAATGCATTACACGTAACGCGAGTGCCGTAATAATATTACTTTTTAAGTTCAATTCAATTCATCTTTATTTCTATAGCGCTTTTAAAATGTAGATTGTGTCAAAACAGCTTAACATAGAACATTATAGTAAATTAAAACAGTGTCAGTCCAGTTTTAGGTCAGTTCAGTGTGGTTTAATTTTCCAAAAAAGTCCAAACACTGAAGAGCATATCCACCGATGCGCAGCTCCACAAGTCCCGAACCATGCAAGTGGCAAGGAACAAAGTTCACCAGTTGGTGAAAGTGAAGGAAAAAATTACCTCGAGAGAAACCAGGCTCAGCTAGGCACAACCATTTCTCTCCTGGCCAAACTTCTTGTGTAGAGCTGCAGTCTAGGCGAAAGCGCAGGAGGCTGCAGAAAGCTGGATGTCCATCGTGGAGAAGCTGCAGGTGGGAGAGGTCACCGGAGAGTGTACAGGCTGGCTCTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23989
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 |
---|---|---|---|---|---|
ENSDART00000029599 | Nonsense | 416 | 649 | 12 | 16 |
ENSDART00000145123 | None | None | 179 | None | 6 |
ENSDART00000147519 | None | None | 263 | None | 7 |
The following transcripts of ENSDARG00000022378 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 33079711)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 34079404 |
GRCz11 | 21 | 34113894 |
KASP Assay ID:
2261-5866.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTATTTTCTTTTTTAGCTCTTGCTAGCTGGTGCTGTTCGGATTGCCGAC[C/T]GAATCGAGTCAGGGAAGACATCAGTGGTGGTCCACTGCAGTGATGGCTGG
Long Flanking Sequence:
CAGACGCATCCGATGTATATGTCTGCAGTGCAACATGCATAAAGAGCACAGCGCAGTTCAACACACATGTCTATGTGCCCGAGAATAAACTGTTAAATACATTTGTGTTTGTGTGTATGTGTGCACAAAAGGATTCTCATAACCTGGTCATATTCTGATTGAACCACTGAAGGCATGTGCTCAGTTTTGAGAATATGTTTTGGTATTTTTCTGGACTTTGAACAACTTTGCAGCTTGGAGGATAAGGAAGTTCTCAGATTTAATCTAAAATGTCTTCATTTATAGTCTCACGATGAATAAAGGTCTCTGGTTAAACAACATGAGGGAGAGTAATAAATAGCAAAAAAAATAATACAATTATGTATAATTTTTCAAAATTATGATTAGCAAAAGCCCACAAAATTTAACTAATAAAATATTTCCAAATCAACAACACTTACAAATATTCAAGTTATTTTCTTTTTTAGCTCTTGCTAGCTGGTGCTGTTCGGATTGCCGAC[C/T]GAATCGAGTCAGGGAAGACATCAGTGGTGGTCCACTGCAGTGATGGCTGGGACCGCACAGCTCAGCTCACCTCTCTGGCTATGCTCATGCTAGACGCACACTACCGATCGCTTAAAGGCTTCCAGGTGCTGTTGGAGAAGGAGTGGCTGAGCTTCGGGCACCGCTTTGCTTCGGTCAGTATCATCCTGCATTTATATGAAAAAAAAAATCTACAGTGTCACAGGATTAAATTTTCTTTCTGTCTTTACGTCTGTTAGCGTGTGGGACATGGAGATGGGAATCATGCAAACTCTGAGCGCTCGCCTCTGTTTGTTCAGTTTATAGATTGTGTCTGGCAAATGACCCGGCAGGTGAGGAAAAACTCTGATAATGCATACAATTAAATATATAGTATGATGGCACTATTATATGATCACTTTAAAGGTTTTACTAGATCTTTCTCTTTTGTTCTTTCCATAGTTTCCTTCTGCATTTGAGTTCAATGAGCTATTTCTCATCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13357
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000029599 | Nonsense | 590 | 649 | 15 | 16 |
ENSDART00000145123 | None | None | 179 | None | 6 |
ENSDART00000147519 | None | None | 263 | None | 7 |
The following transcripts of ENSDARG00000022378 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 33083019)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 34082712 |
GRCz11 | 21 | 34117202 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTTTATATCCAATTGCCAGTCTTAGACATCTAGAGCTTTGGGTCAGTTA[T/G]TATGTGCGCTGGAACCCTCGCATGAGGCCACAGGTGAGAAGGGATTTTTG
Long Flanking Sequence:
ACATTTACACCTCACTGCCAACTAGCGTTTTGGAAGTGTTAATGCTGACCAACAGAGACAGCGCGCAGAAGTATAAATGCACAGCTACGCGCGTTGCATGCGCCGTGGGTTACGACGGTCACTTGACGCAGAAGTATAAACCAGGCTTAACTCGCACAGCACTGTTGATTTACAAAAACAATCAAGTGAACATTAACATTAACCATGTTAATCTATTTTCAAAACTACTCTTGATGTCTGATACAGATAATACTATTGTATATTATCTATATTGGACATCAAAAATGGTTTTGCGTTCTTTTGAAATAATTCTGTCATGATTATTAACCATCATGGTATTCTATCATGCTTTTTCAGGAGGTTTACAACAAGACTGTGTCTTTGTGGTCATATGTGAACAGCCAGATTGAGGAATTTACCAACCCACTGTATGTGAACTACGAGCACCACGTTTTATATCCAATTGCCAGTCTTAGACATCTAGAGCTTTGGGTCAGTTA[T/G]TATGTGCGCTGGAACCCTCGCATGAGGCCACAGGTGAGAAGGGATTTTTGTATGTTTTATAACCTTTTTTATTATTATTATTATTATTTCATGGAAATGTGGCGTTTGGGAAACCTCTTTGAAAAGTATCATTATTGCACACCACTTATTAAGTAAAATTACTCGCGTTTAAATACAATCAGATACTTCACACTTTAAAACAATCCAGTAACTTAATTTTAATTTGGTGAAATTTCCATTTAAAATGAAAGTTAGAATGTGTTTAAAATGTATGCATAGATATATTTGTTCTTATATTCAAGAATAAATAACATTTTTAAAAGTATTTTACATTTTTATTTTAAAAACTTTTAACAAGAGTTTTGTATGTTTGTCAGGTTCCTATACATCAGAGTTTAAAGGAGTTGTTGGTCCTAAAGTCAGAGCTGCAGAAAAGAGTGGAGGATCTAAAACAAGATGCAGCTTCATCAAATTCTCTTTCCTCCTCAGAGCATGAAGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32354
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 |
---|---|---|---|---|---|
ENSDART00000029599 | Nonsense | 619 | 649 | 16 | 16 |
ENSDART00000145123 | None | None | 179 | None | 6 |
ENSDART00000147519 | None | None | 263 | None | 7 |
The following transcripts of ENSDARG00000022378 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 33083448)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 34083141 |
GRCz11 | 21 | 34117631 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCTATACATCAGAGTTTAAAGGAGTTGTTGGTCCTAAAGTCAGAGCTG[C/T]AGAAAAGAGTGGAGGATCTAAAACAAGATGCAGCTTCATCAAATTCTCTT
Long Flanking Sequence:
TATGTGAACTACGAGCACCACGTTTTATATCCAATTGCCAGTCTTAGACATCTAGAGCTTTGGGTCAGTTATTATGTGCGCTGGAACCCTCGCATGAGGCCACAGGTGAGAAGGGATTTTTGTATGTTTTATAACCTTTTTTATTATTATTATTATTATTTCATGGAAATGTGGCGTTTGGGAAACCTCTTTGAAAAGTATCATTATTGCACACCACTTATTAAGTAAAATTACTCGCGTTTAAATACAATCAGATACTTCACACTTTAAAACAATCCAGTAACTTAATTTTAATTTGGTGAAATTTCCATTTAAAATGAAAGTTAGAATGTGTTTAAAATGTATGCATAGATATATTTGTTCTTATATTCAAGAATAAATAACATTTTTAAAAGTATTTTACATTTTTATTTTAAAAACTTTTAACAAGAGTTTTGTATGTTTGTCAGGTTCCTATACATCAGAGTTTAAAGGAGTTGTTGGTCCTAAAGTCAGAGCTG[C/T]AGAAAAGAGTGGAGGATCTAAAACAAGATGCAGCTTCATCAAATTCTCTTTCCTCCTCAGAGCATGAAGGCATGCCCATGCAAACTACTGTCTGAGTGTGTCTCATTTGGTAAACTTTGTAGTCGTAAATGATATTTGCTCCCATCTCTGTTGTCACATTCGGATAATAACAATGTTTACATATAATACAATTCTAGTGTAATGCTTGGAAAATAACCACATTGTGGTCATTGATGCCCCCTATAGGAACTACTGGCAGTGCGTTCACTCACAACACTCTTTCCAATAAATCTTTTAATCATGCCAAATATGAAAACTGTTAATAGATTTGCTTTGTTCTAGTGAAACATATTTGTTAGACACACCACCTTCAGACGAAATGTAAATAATTTAAATGTATTTAAATTATATTTGTCTAATGCATGCACTTTTATATTGTTTTTGTTATACACATTTTATAGCATTATTTAATTTTTTATAAAAAAAATTAAACACATTTG
Associated Phenotype:
Not determined