Busch Lab

ZMP

LOC100333801

Ensembl ID:
ENSDARG00000089046
Human Orthologue:
MTMR3
Human Description:
myotubularin related protein 3 [Source:HGNC Symbol;Acc:7451]
Mouse Orthologue:
Mtmr3
Mouse Description:
myotubularin related protein 3 Gene [Source:MGI Symbol;Acc:MGI:1921552]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa13441 Essential Splice Site Available for shipment Available now
sa6957 Nonsense Mutation detected in F1 DNA Not yet available
sa13990 Nonsense Available for shipment Available now
sa31410 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa13441
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000125655 Essential Splice Site 278 781 8 15
Genomic Location (Zv9):
Chromosome 5 (position 763726)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150702.1 200038
GRCz11 5 1536222
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACGGCTCCTGTGTTCACAATCAYGCTAACGGCACCATCAGTGGCTCCGG[T/C]ACGTAAAAGTGGGTGCGTCTCAATCAGCMCCCTTGTTTACTATGAAAATT
Long Flanking Sequence:
TGTTTACTGTCCTGTTACTTGTTTCAAAACTTAAAGAGCTTCTTTCTTCTGTTAAACACAAAAGAAGATATTTTGAAAAATGTTGGAAACGTGTAACCATTGACTTCCAGTGTTTTTCCTACTATGGAAGTCAATGGTTACCAGTTTTCAACATTCTTCAAAATATCTTCTTTTGTGTTTAACAGATTAAAGAAACTCATAAAGGTTTCATAAAGGTAATTTTTGGGTGAACTGCCCCTTAAATCTGAATTGGATCTACTGTAAACATGGTATTTCACTCAGCTTCATTGTAACCTTTGATCCAGGCACCAGAGTTCGGGCGCTGTGATTGGTCGATGCGGGCAGCCAGAGGTCAGCTGGTGGGGCTGGAGAAACGCTGATGATGAGCATCTGGTACAAGCCATTGCTAAAGCCTGCGCTACAGATCCGGCAGCAAACACAGCACTTGCTAACGGCTCCTGTGTTCACAATCATGCTAACGGCACCATCAGTGGCTCCGG[T/C]ACGTAAAAGTGGGTGCGTCTCAATCAGCCCCCTTGTTTACTATGAAAATTATTAGCCTTTTGTTGTTTATAAACTCCAGTTTTGATGATGTACAGTAAGTGTGCACCAATGTGTAGTGAACCAAGCTCATCAGTGCCCTAAATAGTGCTCGAAATTGTGACCTACCGATGAACAAACTTGGGAGCTAGGGTGCTGATTAAGATGCACCCAGTGACTATGCTCCTGTTCAGCACCTCATCTACTTTATATTCATGCCAGATCCTCACATGGCCAATGGAAAGGTAGAGGCGGAGCCAAGTGCCACGCCCTCTCAGAAGCTGTTAATAATGGACGCACGCTCATACGCCGCAGCAGTAGCCAATCGGGCTAAAGGAGGAGGCTGTGAGTGTCCAGGTAATGCAGAACTTATGATTCTGATCAATGTTATATGCTGAATGTTTGACTAATAGTGCAGTTTACCTTCTCTCAAGCATGACTTGTGCTTCTTGTAGAGTATTATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6957
Status:
Mutation detected in F1 DNA
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
ENSDART00000125655 Nonsense 497 781 13 15
Genomic Location (Zv9):
Chromosome 5 (position 768550)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150702.1 204862
GRCz11 5 1531398
KASP Assay ID:
554-4498.1 (used for ordering genotyping assays)
KASP Sequence:
AGGTGTGTTTTRTTGCTGCAGGTGAAGCTGGTGCAGCACACATACTCCTG[T/A]CTGTTCGGGACGTTCCTGTGTAACAGTGTGAAGGAGCGAGAGGAGCAGCG
Long Flanking Sequence:
TTATGCACGCTGCGCTATCCCATGATGCCCCGCGAGCGAATTCATGAATGGGAGTGAAGCGACGCAAATAACGCAGGTAGGTCACGTGACCATGACAAAATGGCGGATGTAGTACGTCCGAATTCCATTCATACTTTCACATTCATACTGTATAGAACGTACTTTTCTAACGGCCGAGTAGTACGTTTAAATTCAAATACAGTACCTACTGAGTAGTAGACGGTTTCGGACGCAGCCTAAGAAATGTAGTTTAGTGCGGTAGGAGAAGCCACTGTGGCCTTTTCTCTTCTCTAATAAAGACAAAACTCAATTAAGTGTCAGTCATCTTGGCCTCTGAGATTGGCTGATTGGTTCACTTGTGTGTGTTTAATTAAAGTGTGTGTTTGTGTGTCTGTAGGTGTGTGACTGTGACCTTTGCTGACTTTGAACTGGTAGTGTGTGTAATGAGGGAGGTGTGTTTTGTTGCTGCAGGTGAAGCTGGTGCAGCACACATACTCCTG[T/A]CTGTTCGGGACGTTCCTGTGTAACAGTGTGAAGGAGCGAGAGGAGCAGCGCGTACAGGAGAAAACCTGCTCTGTTTGGTCTCTGCTGCGGCCTGCCAATCAGTCCTTCCACAACATCCTCTACTCTCCACGCTCAGAGACGGTACCATCATACACGCGATCTCAGTGCACAGCACAACACAACACAAATACATTAACAAACTAATATACTTAGATACTAAAAAACAAGGAAACATACTAACTAGCAAAAAAACAAACAAACTTAACAAGATACTAACTAATTAACATACTAACACACTAATAGACAAACTAGCAAACACTAACAGACATACAAATTAGCTGACATAACAAACAAACAAACACCCTAACAAACAAACAAACATACTAAATAACATACTAACAAAAACAAGCATACTAACTAACATACTAACAAACATACTAACTAGCTAAATTCTATACTATACATACTATACAAACAAACAAACATAATAACTAACAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13990
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000125655 Nonsense 513 781 13 15
Genomic Location (Zv9):
Chromosome 5 (position 768596)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150702.1 204908
GRCz11 5 1531352
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTGWCTGTTCGGGACGTTCCTGTGTAAYAGTGTGAAGGAGCGAGAGGAG[C/T]AGCGCGTACAGGAGAAAACCTGCTCTGTTTGGTCTCTGCTGCGGCCTGCC
Long Flanking Sequence:
AATGGGAGTGAAGCGACGCAAATAACGCAGGTAGGTCACGTGACCATGACAAAATGGCGGATGTAGTACGTCCGAATTCCATTCATACTTTCACATTCATACTGTATAGAACGTACTTTTCTAACGGCCGAGTAGTACGTTTAAATTCAAATACAGTACCTACTGAGTAGTAGACGGTTTCGGACGCAGCCTAAGAAATGTAGTTTAGTGCGGTAGGAGAAGCCACTGTGGCCTTTTCTCTTCTCTAATAAAGACAAAACTCAATTAAGTGTCAGTCATCTTGGCCTCTGAGATTGGCTGATTGGTTCACTTGTGTGTGTTTAATTAAAGTGTGTGTTTGTGTGTCTGTAGGTGTGTGACTGTGACCTTTGCTGACTTTGAACTGGTAGTGTGTGTAATGAGGGAGGTGTGTTTTGTTGCTGCAGGTGAAGCTGGTGCAGCACACATACTCCTGTCTGTTCGGGACGTTCCTGTGTAACAGTGTGAAGGAGCGAGAGGAG[C/T]AGCGCGTACAGGAGAAAACCTGCTCTGTTTGGTCTCTGCTGCGGCCTGCCAATCAGTCCTTCCACAACATCCTCTACTCTCCACGCTCAGAGACGGTACCATCATACACGCGATCTCAGTGCACAGCACAACACAACACAAATACATTAACAAACTAATATACTTAGATACTAAAAAACAAGGAAACATACTAACTAGCAAAAAAACAAACAAACTTAACAAGATACTAACTAATTAACATACTAACACACTAATAGACAAACTAGCAAACACTAACAGACATACAAATTAGCTGACATAACAAACAAACAAACACCCTAACAAACAAACAAACATACTAAATAACATACTAACAAAAACAAGCATACTAACTAACATACTAACAAACATACTAACTAGCTAAATTCTATACTATACATACTATACAAACAAACAAACATAATAACTAACAATTAACAAACTAACAAACAAACATACTAACTAAATTATATACTATACTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31410
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
ENSDART00000125655 Nonsense 531 781 13 15
Genomic Location (Zv9):
Chromosome 5 (position 768650)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150702.1 204962
GRCz11 5 1531298
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGTACAGGAGAAAACCTGCTCTGTTTGGTCTCTGCTGCGGCCTGCCAAT[C/T]AGTCCTTCCACAACATCCTCTACTCTCCACGCTCAGAGACGGTACCATCA
Long Flanking Sequence:
TGGCGGATGTAGTACGTCCGAATTCCATTCATACTTTCACATTCATACTGTATAGAACGTACTTTTCTAACGGCCGAGTAGTACGTTTAAATTCAAATACAGTACCTACTGAGTAGTAGACGGTTTCGGACGCAGCCTAAGAAATGTAGTTTAGTGCGGTAGGAGAAGCCACTGTGGCCTTTTCTCTTCTCTAATAAAGACAAAACTCAATTAAGTGTCAGTCATCTTGGCCTCTGAGATTGGCTGATTGGTTCACTTGTGTGTGTTTAATTAAAGTGTGTGTTTGTGTGTCTGTAGGTGTGTGACTGTGACCTTTGCTGACTTTGAACTGGTAGTGTGTGTAATGAGGGAGGTGTGTTTTGTTGCTGCAGGTGAAGCTGGTGCAGCACACATACTCCTGTCTGTTCGGGACGTTCCTGTGTAACAGTGTGAAGGAGCGAGAGGAGCAGCGCGTACAGGAGAAAACCTGCTCTGTTTGGTCTCTGCTGCGGCCTGCCAAT[C/T]AGTCCTTCCACAACATCCTCTACTCTCCACGCTCAGAGACGGTACCATCATACACGCGATCTCAGTGCACAGCACAACACAACACAAATACATTAACAAACTAATATACTTAGATACTAAAAAACAAGGAAACATACTAACTAGCAAAAAAACAAACAAACTTAACAAGATACTAACTAATTAACATACTAACACACTAATAGACAAACTAGCAAACACTAACAGACATACAAATTAGCTGACATAACAAACAAACAAACACCCTAACAAACAAACAAACATACTAAATAACATACTAACAAAAACAAGCATACTAACTAACATACTAACAAACATACTAACTAGCTAAATTCTATACTATACATACTATACAAACAAACAAACATAATAACTAACAATTAACAAACTAACAAACAAACATACTAACTAAATTATATACTATACTAACAAACAAACATACTAACTAACAATTAACACACTAGCAAACAAACATACTAACA
Associated Phenotype:
Not determined