ZMP
sbf1
Ensembl ID:
ZFIN ID:
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.
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 |
---|---|---|---|---|---|
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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