Busch Lab

ZMP

mtmr12

Ensembl ID:
ENSDARG00000059817
ZFIN ID:
ZDB-GENE-050401-1
Description:
Myotubularin-related protein 12 [Source:UniProtKB/Swiss-Prot;Acc:A2BGG1]
Human Orthologue:
MTMR12
Human Description:
myotubularin related protein 12 [Source:HGNC Symbol;Acc:18191]
Mouse Orthologues:
Mtmr12, Sbf2
Mouse Descriptions:
SET binding factor 2 Gene [Source:MGI Symbol;Acc:MGI:1921831]
myotubularin related protein 12 Gene [Source:MGI Symbol;Acc:MGI:2443034]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa33674 Nonsense Mutation detected in F1 DNA Not yet available
sa25309 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa6059 Nonsense Mutation detected in F1 DNA Not yet available
sa2252 Nonsense F2 line generated Not yet available

Mutation Details

Allele Name:
sa33674
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083561 Nonsense 322 736 10 16
Genomic Location (Zv9):
Chromosome 5 (position 42731777)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 40513042
GRCz11 5 41113195
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGAATCACTTCCTACTCTCCAAGACATCCAGCAGTCATATAACAAGTTC[A/T]AACAATACTTTCTCATCGGTGAGCCACTGGAAAAGGGCAGAAATAATCTC
Long Flanking Sequence:
TTATAAAGATAACTGAAGCCAAATGTTGTTGTCTTCTTTAGATCTGGTGCTGGTCTCATCACAGCGGTTGTGCTCTCTTCAAAGCATCTTTCCCATCTATGACACAGGAAGATGGGGATTTTCAAAGCCACTTGGACACGTGAGAAAATACAGTTTTAGTCTGCCATTTATGTCTGAATTCAGACGGACAGCTGCGATTTCATCATGGTGGCATGAGGGGCTGTGCTTTTAAGTGCTGACACTCAAGGGCATCAAAGAAAAACATGTTGTAACGTTATCTAACATTGCTCTTAACACCATCATGAACCAGTAGAGCATTTCTGTGTTGTGCTACTCTGTGATGAACTCAAGGACCAAAACTAAATTGTATTATGTCTACTGTTATCTGTTCCAGAATGATTACTGCAGTCGCACGGAACTACCTTTATTCAGTAAAAACAGAAGACCTCTCTGAATCACTTCCTACTCTCCAAGACATCCAGCAGTCATATAACAAGTTC[A/T]AACAATACTTTCTCATCGGTGAGCCACTGGAAAAGGGCAGAAATAATCTCAAGTATTTAATTAATGAACACATATATTGTTTTTTAAATTGCTGTGTAATGACTTTTCTGATTTGTTTCTTAGATAATACAACAGATTTTTGGTTATCAGATGTTAAATGGTTCTCTTCTCTTGAGAGCTCAGGATGGCTGGACATCATTAGGTCAGTTTACTTGAAGAAAGCCTGAAATTGTGTGATTTACTCTATGAAACTATTCACAAACTGTTTTTAATGTCCTCAACAGACAATGTCTCCAAAAAGCAGTAGAGGTGGTGGAATGTCTTGAAAAAGACAACACAAATGTTCTTATAACGGGTAGGTCAAGCATGCTTAAAGTATATCGACTTTAGTGGTCCTACATGTCATCTTCTGGGTTAGCCAGTCATGTCAGTTTGGGTTATCCGTATTGAAATAGATTTTTGACAATTACTGTTAAACCTTTAACGGTTCAAGACACATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25309
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083561 Essential Splice Site 354 736 11 16
Genomic Location (Zv9):
Chromosome 5 (position 42731574)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 40512839
GRCz11 5 41112992
KASP Assay ID:
554-7819.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTAAATGGTTCTCTTCTCTTGAGAGCTCAGGATGGCTGGACATCATTAG[G/T]TCAGTTTACTTGAAGAAAGCCTGAAATTGTGTGATTTACTCTATGAAACT
Long Flanking Sequence:
CATGGTGGCATGAGGGGCTGTGCTTTTAAGTGCTGACACTCAAGGGCATCAAAGAAAAACATGTTGTAACGTTATCTAACATTGCTCTTAACACCATCATGAACCAGTAGAGCATTTCTGTGTTGTGCTACTCTGTGATGAACTCAAGGACCAAAACTAAATTGTATTATGTCTACTGTTATCTGTTCCAGAATGATTACTGCAGTCGCACGGAACTACCTTTATTCAGTAAAAACAGAAGACCTCTCTGAATCACTTCCTACTCTCCAAGACATCCAGCAGTCATATAACAAGTTCAAACAATACTTTCTCATCGGTGAGCCACTGGAAAAGGGCAGAAATAATCTCAAGTATTTAATTAATGAACACATATATTGTTTTTTAAATTGCTGTGTAATGACTTTTCTGATTTGTTTCTTAGATAATACAACAGATTTTTGGTTATCAGATGTTAAATGGTTCTCTTCTCTTGAGAGCTCAGGATGGCTGGACATCATTAG[G/T]TCAGTTTACTTGAAGAAAGCCTGAAATTGTGTGATTTACTCTATGAAACTATTCACAAACTGTTTTTAATGTCCTCAACAGACAATGTCTCCAAAAAGCAGTAGAGGTGGTGGAATGTCTTGAAAAAGACAACACAAATGTTCTTATAACGGGTAGGTCAAGCATGCTTAAAGTATATCGACTTTAGTGGTCCTACATGTCATCTTCTGGGTTAGCCAGTCATGTCAGTTTGGGTTATCCGTATTGAAATAGATTTTTGACAATTACTGTTAAACCTTTAACGGTTCAAGACACATTGGAGTACTTTTTTAAAAAAAAGTCAGTCAGGACAATGTTAGCACCTGTCAGCTTTAATTGTGGGGAAAACTGGATAATTTTGAGCTTTTGTCAGCTTATTTCAGCTTCTGGGTTTAAAATCATTTTTGGATCGAGATCAAAATTGGTGGCGTTTCGCGAATCTGCTAATCAAGTGATGATGTGTTGGATTCTCAATATTATTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6059
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083561 Nonsense 424 736 13 16
Genomic Location (Zv9):
Chromosome 5 (position 42729072)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 40510337
GRCz11 5 41110490
KASP Assay ID:
554-3722.1 (used for ordering genotyping assays)
KASP Sequence:
AGAGTCTGGTGCAGAAGGAGTGGGTGGCTGGTTGCCATGCCTTCCTGGAT[C/T]GATGCAATCACCTCCATCAGAAAGACAAGGAGGTAATTATTGCATGCTTG
Long Flanking Sequence:
CTGTCAGAATTAAGGCAAAAAGTTAAATCTTTTTATAATAGATAAATACTTTTTTAAATAACTGTTATTTTCACACCATTGTCATTTGAGTTGTTTTTATTTTGATATAGAAAGGAAAGTGCAGCACATATTTTACATACCTAAACATTTTACATCTCTTATCTCTTGTGCAGTGTCTGGAATTTTTTAACAGTATATAATCTTATCAACAAAAAATAAAAATAAAAAATATAAAAATGCAGCAAATAAATCAGGTCCTTTTTTTCACTTTTAAAAGAAATACTTTTAAATCTGGCAAGATCTGTCCCTGTGACTTTGAGATTGTATCAGCTGATGTTTTGTGGTGTTATTGATTGTTCACAGAGGAAGAGGGGACAGATCTGTGCTGTGTGATCTCCAGTCTGGCTCAGATAATGCTGGACCCGTATTACAGAACACTGATGGGTTTCCAGAGTCTGGTGCAGAAGGAGTGGGTGGCTGGTTGCCATGCCTTCCTGGAT[C/T]GATGCAATCACCTCCATCAGAAAGACAAGGAGGTAATTATTGCATGCTTGTTATAGCCTGTTGTTTCTTCAGAGGCTTAGAGGAAAGGTTACTGTTTTATACTTTCTCTTTTTTTTGTTGTTGTTAACCTTTGATATCTGCAAGCTGTTCTGCAACCAGAAATACAAGTTGCAAACCTGTCTTTAATCAGGTTACAAAATTATGTCAATTGTAATCATGACATGTTCGTCTGGAATAATTAAGCATAAATTGCCTCAGAGGCTAGGTTGAAACAGTCAATTTTTTCTTTTTTTGATCCACAGGAAAATTTATTTTATACTATATTAAATCATATACTGACCTTTTGAGATCTTTGTTGAATTCTTCAGTGTGAATTAAACTTGTTTTTAAACCCAATGTTTTATAGCATAATATATGCAACCCATAATGTTTTGGAGAAAACTGCAATTATCAGAGTCACGTCAGCAACGTGCCCAAAATAGATGTTTAGCCCTGCCCAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2252
Status:
F2 line generated
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
ENSDART00000083561 Nonsense 676 736 16 16
Genomic Location (Zv9):
Chromosome 5 (position 42724951)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 40506216
GRCz11 5 41106369
KASP Assay ID:
554-3391.1 (used for ordering genotyping assays)
KASP Sequence:
TGGAGGATCTGAAGCGTGTGCTGGAGCAGAGAGACCCATCGCTGGCCACT[C/T]AACCCGATCACCCTCCACCTCTTCACCATCGGCTGCCCTCATTYGGTTCC
Long Flanking Sequence:
TTTTGTTTCTTTTTGCTTTTAATTTGTTTGAATTATACTCTGCTTTTCTTTTTGAATAATTCACAGTGTGTTTTTGCATGCATATTTAATTGATTTTGATTTCAAATCTATAGCACCAAAGGCAGTTATCCTTGCCCAGCTCAGCTTTCAAAACCCCAACCAAGAAAGGCTTCTTCAAAGACGAGACCGACAGCCTTAAGAAGATGCTCCGAGTGAAGCGTATCAGTCGCTGGATGGGCTCTCCAGACTCTCCCGTCGTCGCCAGCAGAGAGTTTTACGAGTCCTGGCAGCAGCGTCCCCTGGACTATCACGGGCTCCTGCTGCCCTCTTTGGACGGACCGTCTGTCCGCATCTGGATGCAGCGCTACCTACGCTGGATCCCTGAAGTGCACATCATGGGTGGAGGCTCGGTGGCCATCATGACCAAGCTGATGGAGCTGCTGAGTCAAGTGGAGGATCTGAAGCGTGTGCTGGAGCAGAGAGACCCATCGCTGGCCACT[C/T]AACCCGATCACCCTCCACCTCTTCACCATCGGCTGCCCTCATTCGGTTCCTCAGGACGACTCTCATCCTCGTTCCCCTTCACTTACAGCCGCAACCGTTCCTTCAAACCCATCATTCCCACAGGTCTAATGCAAAGCCTCATGGTGGCCGATAATCTGGCCAATCAGGAGGACGAGACCAGTTAGGCTGAGAGTTTGGTTTAATAGGAAATCTGTTTCCATCCATTAATGGTTATATTATTTAATAAGTATATTATAAGGTAGATACAGGATTAAAGTGGCCTTGAAGGTGTATAAAGTGCCTTTGGTGCTAAAGCGGGTCTTTTTTTGAAGTAAAACAGGGTTTTGTTCAACTAAATGTGCCCTACTGTATTGAAAACATAACATGAAAATTTAGACAGGATGTAGACTTTTTTTTTTGTGGAAGTTTTTTTAAGAACAGTACCTAGTATTTTCCTCTTGCTCATCACAAAACAGGAACAGGATACAGGCTTGAACATC
Associated Phenotype:
Not determined