Busch Lab

ZMP

mtmr1b

Ensembl ID:
ENSDARG00000022378
ZFIN ID:
ZDB-GENE-050327-48
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.
Availability:
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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.
Availability:
Order Allele From ZIRC
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.
Availability:
Order Allele From ZIRC
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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.
Availability:
Order Allele From ZIRC
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
Availability:
Order Allele From ZIRC
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