Busch Lab

ZMP

sbf1

Ensembl ID:
ENSDARG00000062968
ZFIN ID:
ZDB-GENE-040718-139
Description:
myotubularin-related protein 5 [Source:RefSeq peptide;Acc:NP_001038623]
Human Orthologue:
SBF1
Human Description:
SET binding factor 1 [Source:HGNC Symbol;Acc:10542]
Mouse Orthologue:
Sbf1
Mouse Description:
SET binding factor 1 Gene [Source:MGI Symbol;Acc:MGI:1925230]

Alleles

There are 10 alleles of this gene:

Allele Name Consequence Status Availability
sa20215 Nonsense Available for shipment Available now
sa1459 Essential Splice Site Available for shipment Available now
sa11843 Essential Splice Site Available for shipment Available now
sa1433 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa20215
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
ENSDART00000091599 Nonsense 462 1850 13 40
ENSDART00000091601 Nonsense 464 1885 13 41
ENSDART00000109452 Nonsense 462 1849 13 40

The following transcripts of ENSDARG00000062968 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 4 (position 9024918)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 9961766
GRCz11 4 9962682
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGACTGGAGATCCTCATAAAGTCATGAAGCACATTAAGGAGCTGGCGGAG[C/T]AGCTTTTCAAAAATGTATGTCCGATTTGTGGGTCTTATATGAATATATAT
Long Flanking Sequence:
GTTGGACAAAATAATTGACAGATCTAAAAATATTGGCCTTTTTTATATATCCAAAACATGATTCCATTTCAAAAGCAAGCAAATTTCTGATGAACTATTTGTTGTGTGAGAGACGTGTTATTTTTTATCCACCTTTAACTGAAATACTTGGTAACTATTATACATTTGAACGGTAAAACAGATCATAAAAGCTTGTTGTTTTCTCTCCAGGCTGCTTTTTTGGGGCAGCGAGCACTATCTGAGGATGACTTCCTGATGAAGGTGCTGGATGGCATGGCCTTCGCCGGGTTTGTGTCTGAACGCGGTCCTCCGTATCGAGCCACTGACCTGTTTGACGATGTAAGTCATGGTTCAGTTTTAGATTTCTCAATCTTAGAGTCTTAAGATTCTCTCTGACTTCTTTATTTTCCTTTTAGCTCATAGCCAATCAGGTGGAGCGCATTCGAAAGGAGACTGGAGATCCTCATAAAGTCATGAAGCACATTAAGGAGCTGGCGGAG[C/T]AGCTTTTCAAAAATGTATGTCCGATTTGTGGGTCTTATATGAATATATATTTTTGTCCAGTTTTTTTTCACAACCTTTTATTTTTAAGCTAACTGTATATATACATACAGTTGAAGTCAGACTTATTGCCCCCCTGTTTATTTTCCCCCCAATTTCTGTTTAACGGAAAGAAGAATTTTTCAAAATATTTCTAAACATTTAATAACTCATTTCTAATAACTGATTTATTTTATCTTTGCCATGATGACAGTAAATAATATTTGACTAGATATTTTTCAAGACACTTCTATACAGCTTAACGTGTCACTTAAAGGATTAACTAGGTTGACTAGGCTGGTCAGGGTAATTATCGTATAACAATGGTTTGTTCTGTAGACTATTGAAAAAAGTATATAGCTTAAAGGGGCTAATAATTTTTACCTTAAAATGGTTTTTAAAAAATTTAAAACTGCTTTTATTCTAGCTGAAATAAAACAAATAAGACTTTCTCCAGAAGGAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1459
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000091599 Essential Splice Site 786 1850 19 40
ENSDART00000091601 Essential Splice Site 790 1885 19 41
ENSDART00000109452 Essential Splice Site 786 1849 19 40

The following transcripts of ENSDARG00000062968 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 4 (position 9031725)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 9968573
GRCz11 4 9969489
KASP Assay ID:
554-1384.1 (used for ordering genotyping assays)
KASP Sequence:
ACCGGCCTYGGGGACGTCGAGAGCGTCAGCAACAGCTACGTCACCAACAG[G/A]TTTGTGCGGGCTCGGACTGGGAGACAATAAAAAAAGCAAACATTTTATTC
Long Flanking Sequence:
GTTTAGTTAATTTATTTTAGGTATGAAAGTTATATACATGTTTTTAATTTAAACCCGCTTAAGAATTTTAGTTTTTTTGATTTATTCAAAGTTTTTGTTTCATTTTATTGGTTTTTAATAAAATTTGTAAAAATTATTTAAACTTTTTATTAATCAATTAATGCACACAAATATTAAGCAAAAATGCCGCCTTTTTTAGTGCTGCATTTGAGGGCTGATCTGTGTTTATTTCAGGAGGTGGAGGGTCTTGGTGTGTCTCAGAATCAGCTCAGCGCTCTTGAGCTGGCATCAGAACAGAGTCGTCTGTGGCCCACGCTGAGTAAAGAGCAGCAGCAGGAGCGAGTCCAGAAAGAGGAGAGCACAGTGTTCAGTCAGGCCATCCACTACGCAAACCGAATGAGTTACCTGCTTCTGCCCCTCGACACCAGCAAAAACCGCCTGCTCCGCAACACCGGCCTTGGGGACGTCGAGAGCGTCAGCAACAGCTACGTCACCAACAG[G/A]TTTGTGCGGGCTCGGACTGGGAGACAATAAAAAAAGCAAACATTTTATTCAAATACAGGGTATCCGCGGGGTCTTAAAGTCCTAATATGACATAAATTTCAAAAACAAAATTTTAGGCCTTAAAAATAAAAACTTATAACAAAAATATATTTATAAATAATATTATAACTTTCTGCTGTGCATACTTTTAGTTTTTAAAGAGTTTTTTTAAGTTATGTTGAAACAATGCATGTATACAACTAGAGTCTGCTTTTTTGACACATTGTTTAAAATACGTAGCTCAGAAATAACTAATTAGAAATATAGCCGCAAGCGGCGATTGACGGGGGTCAAGCAGTTTAGCAGGGTAAGGTTATATAGCAGTCATGAAGCCTGTGAATTTACAATGCATAGCGCCACCATGTGGCCAATGTCTACGAGTTTCATGCTATGGCCAATTACTTTACATTCTTTTCTAAAGAGCAGTAAAATAAACTATAAACTATCAGTGGTGTGTTACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11843
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
ENSDART00000091599 Essential Splice Site 868 1850 21 40
ENSDART00000091601 Essential Splice Site 872 1885 21 41
ENSDART00000109452 Essential Splice Site 868 1849 21 40

The following transcripts of ENSDARG00000062968 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 4 (position 9037556)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 9974404
GRCz11 4 9975320
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTGGACGCGGTTCACAGGGAGAGCAAACGTCTGCCGCCCATCCAAAAGG[T/C]AACMAACTCATTGTTTTACGTTCCTCTGGGCAGGAAAGGCAGTGTAGAAA
Long Flanking Sequence:
GGCGTCACCAACGAACACCTAAAAGCCCTCCACACAATGATACCAGGTAAAACTCCTTTCTTATTTTTTTAATTATTAGCCCTTATATAAAATTATATATTTTTTGGTGCTGTATAAGAGAGAAGATTTTTTAAAATACACATTTAAAAAAAAAAGTTTTAATATGTGACATATCTGTACAATAGTGTTTTTTCTGTAGCCAATTACAAAAAAAAGTTTTTTAGTTAAAATGTATTATTAAAACTGTCTTTATTTTGGCCAAAATAAAATAAGTAAAATAATTAAATAAAGTAAATATAATTTAATTATATCTATTTAAAAATAAAAAAAAAGAATTACAATTTATTTGGCGGACTCATAATTTGGACTTCAACTGTACATTAAGTTTTTTCTTAACTTTTTTAATGTTCCCGTTTGTCTTTCAGACATCGTTCAGATGCACATCGAGACGCTGGACGCGGTTCACAGGGAGAGCAAACGTCTGCCGCCCATCCAAAAGG[T/C]AACCAACTCATTGTTTTACGTTCCTCTGGGCAGGAAAGGCAGTGTAGAAACGCAGGCAGATTCCTCTTCGCCCCACTTCATCTCCTCCACCATTGAGTCCCAGAGTCACAACAGGTACGTTCAGCTCTCAGAGCGGCGCCTGACTCTGATGCATGATGGGATTTCTGGCCTGCTGTTTTGAGCGCACTTCAGTTTGATGTTCTGCTGTGCTTCCTTTTAACATGTAGGTGTGATTTCCTTTCTTTTTGTATCGGAGATCTTGGTTGCAAGGTGACCAAAGCAAACGCCCTCACAAAACCTTCATGGTTTTTTTGTGTGTGTGGAGGTTGTCAGAGACATTTCTGATGGATTGTGCAATCAGATTATTTTCTCCTGCATTTAAGATCTCAGTCTACTAATTAGGAGATCTTCAATGCTTTTGTTGTTCCAAACCCATATTTTTATATGCACCTTAATGATTATGGCAAATTAGCTTTATTTTCTCTTTCATATGTCTTTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1433
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000091599 Nonsense 1829 1850 40 40
ENSDART00000091601 Nonsense 1864 1885 41 41
ENSDART00000109452 Nonsense 1828 1849 40 40

The following transcripts of ENSDARG00000062968 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 4 (position 9060465)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 9997313
GRCz11 4 9998229
KASP Assay ID:
554-1361.1 (used for ordering genotyping assays)
KASP Sequence:
CTTTTTCTTCTCTTCCAGCTCAAGACGACCAAAAGAGTGTACAACTTCTG[T/A]GCCCAGGACAGCTCAAATGCGCAGTCATGGATGGACAGTATTCAGGGTTG
Long Flanking Sequence:
GCATTAACATTTTCACACTTTTCTCCGGTTTAAACACTCTTAAAGTTCAAACTTTCATACACAAAGTAAGTTCAGTATTACAAAATTAAACCTAAGATCAAAACCTGTTGTCAGGTGCAAGAGTCGTAGCTGGGAACTGCATACAGCCACCAACTTGTGGTGCCGGTGCTTACCCATATATAAACCTATGTTTGAATGCTGCTTCACGGCGCATCCGGTGTGCAACCCCCTTTACGATGGTCTTGCTGCGGACAGTTACCAGCCTTTTTGCATTCTTGTTGAAACTCACACTGCTAGCGATCAAAAATGTATGTTAATTCGGCAAGCTGAACGCATTCTGTACTGTCCAGGAGACACGGAGGAGATTTATTGACAAACAGCCAATCAGGACGCAGAACACAAGTGTAAAAAAAGGGAGTAAAAAATTATTTCCTAGTAAAAAAAATATTCCTTTTTCTTCTCTTCCAGCTCAAGACGACCAAAAGAGTGTACAACTTCTG[T/A]GCCCAGGACAGCTCAAATGCGCAGTCATGGATGGACAGTATTCAGGGTTGCCTATCTGATGCGTAGGTGTCGGATCCTAGCAGACAACATAACTGTGACGCATAGTAAAGAGGAGGGGCGGAGCCAGTGACGGACAGAGGCCTCATAGCCAATGGGGAGCCACTCCCCGGGCGTTTACAGAGGAAACAGGGCTTCCCTATTGGTGTTATTGAACTTTGCGATGTCGCATCTCATTTCAAAGACTGATATCCGTGCTCGGCTTCAAAACACTTCCTTCACTTGTTTGAAAAAAAGGCATGACCTGCGAGTCTTCTTCAGTTATCGCTCGCATCCCATAATTATCGCTCCAATACTGCCACCTTTCAGCTATGCAGGGGCTCAAAAATGCCCACTAACTAGCCACACAGCTACTAACTACTCACTATTCCATGGTTCGGAGGCAAGTCTAGACTATTGCATCGATTTCCTGCCTTCTCATTGGCCGGTTAAGTTCTCACACT
Associated Phenotype:
Not determined