Busch Lab

ZMP

zgc:158642

Ensembl ID:
ENSDARG00000059806
ZFIN ID:
ZDB-GENE-070112-542
Description:
Phosphatidylinositide phosphatase SAC1-A [Source:UniProtKB/Swiss-Prot;Acc:A1L244]
Human Orthologue:
SACM1L
Human Description:
SAC1 suppressor of actin mutations 1-like (yeast) [Source:HGNC Symbol;Acc:17059]
Mouse Orthologue:
Sacm1l
Mouse Description:
SAC1 (suppressor of actin mutations 1, homolog)-like (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa45586 Nonsense Mutation detected in F1 DNA Not yet available
sa22963 Nonsense Available for shipment Available now
sa42833 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa22964 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa45586
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
ENSDART00000083513 Nonsense 143 586 5 20
Genomic Location (Zv9):
Chromosome 16 (position 57141882)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 53724447
GRCz11 16 53611274
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACTGACGGTTTCTACTTCGCCACAGATTACGACCTGACGCACACATTA[C/T]AGCGGCTGTCCAACACCAGCCCAGAGTTTCAGGAGATGACCTTACTGGAG
Long Flanking Sequence:
ATTGAAATCAGGGCTATTTAATTAGTTTGTCATAGGGTTCATGAAAAGCATCCCAAACGCAGGGCTGGAGAGATATGACTTGCTATATGAGTGATGACACAACTGCATATAAGAGCCCATATGCTGTATTTTTGCTCCTTAAGACACCCACGTTGTTTTTTTCTACATTAAAATGTTAATAAATTTTATTTTAAAACTTCATAAAATCAGTGCACTGTACAATAGACTTTTTTTTTCTTTTTTTATTACAAACATTCAAATGTTGTTTTTTAGAGCACAACAAACGCAGTGCATTGCTGAAGTAGACTTCTTCTACATTCAGACACATTCATATGTTATGTTATGTCGTCTCTTTAAGAAATGTTGTCGTATTGAAACTGATCATGTTTATTTGTATCTTCCAGATGCAAGACAACAAAGTGTTCCTGTCCATGCTGAACAGTGTGCTGAACACTGACGGTTTCTACTTCGCCACAGATTACGACCTGACGCACACATTA[C/T]AGCGGCTGTCCAACACCAGCCCAGAGTTTCAGGAGATGACCTTACTGGAGCGGGTGAGGACTCGTTGACATTTCTTTTGCTAAACGGAAATTCAGACTATTTTCCCAGTCAAAGTTTGCTGTTTAACAAATTAGGGAATAATAAATTAAAAGAAAGATCTAATTAAAAGATCTACTAATAGTGGCTGTCATGAGTACAACCGCATTCACCATTGAGAGGTGGGATAATGACTTATGAAGAGGATTTTTGTTTTCACAATCAAAAATAAAAAAAACAATCCAACCTTAGAGGCTGATAGCTCCTCACCTTCATCATAAGCCACTCCCCTTCATTATCATATCACCCCCTTCCTCATTAGCTCCACTACTTCACCATAAGCCCCTTCCCTTTGTTATCATCTCCTCCCCCTCATTAGCAGCTCCTCTCTTCATCATAAGCCCCTCCCCTTCATTATCATATTTTCCCCTTCACTAGTAGCTCCTCCCCTTCCACACAATCCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22963
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083513 Nonsense 167 586 6 20
Genomic Location (Zv9):
Chromosome 16 (position 57142836)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 53725401
GRCz11 16 53612228
KASP Assay ID:
2261-0400.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGATGAATGATTTTCTGCTGTTTCTGCAGGCGGATCAGAGGTTTGTGTG[G/A]AACGGTCACCTGCTCCGAGAGTTTATGGCACAGCCGGAGGTAAAACACAC
Long Flanking Sequence:
TCATATTTTCCCCTTCACTAGTAGCTCCTCCCCTTCCACACAATCCCTTCCCCTTCATTATTATCTCCTCCTATTCATCAGCAGCTCCTCTCTTAACCATAAGCCCCTCCCCTTCATTATCATCTTCTCCCCTTTTCCAGTAGCCCCTCCCGTCCCAATAAGCCCCTCCCCTTTAGCATCTACTCTCTTTCATCAGCAGCTCCTCTCTTCATCATAAGCCCCTGCCCTACATTGTCATCCTCTACTCTGTACCAGTAGCTTCTCCCCTCCCAATAAGCCCCTCCCCTTTATCATCTCCCTTTCATCAGCAGCTCTTCTCTTCATCATAAGCCCCTCCCCTTCATTATAATTCACTCTGGGACAAGTTTTGCATGTAATTACTCATGGAACCTTACACAGAAATGTTCTTCTTTATGTTTTTAATGTGCTGTACTTTTGTATTTTTGAGCTTTGATGAATGATTTTCTGCTGTTTCTGCAGGCGGATCAGAGGTTTGTGTG[G/A]AACGGTCACCTGCTCCGAGAGTTTATGGCACAGCCGGAGGTAAAACACACTCACACATTCACATCAACAAACTTTACATTCAGCTGCTGTTCTCACACTCATTTGTAGGACAGGTGTTTCTGCGCCTTAATATGCAGTTGAAGACTACACTATTTGCTTTAACATTCCTTTGAAATTTTAATTCATTTTTTTTTAATTTAAGTGATGTTTCACAGAGCATGGATAATTTTAATTTCATATCATATTTTTCGCCAGAATAAAAATATATATTTTTGGCTAGAATAAAAATATATGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTACGGAATCCCGGAAGGGACATAGTGGAGGAGAAAAAAATTGGGTGGGTGAAAAAAAAATAATGGGTGAAAGAAAAAAATGGGTGGGAGGAAAATATATATTTCTAAGTTTTTGCGTTCTCTCGCAAAGTTTTGCGTTCCCTCGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42833
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083513 Essential Splice Site 180 586 6 20
Genomic Location (Zv9):
Chromosome 16 (position 57142877)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 53725442
GRCz11 16 53612269
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTGTGTGGAACGGTCACCTGCTCCGAGAGTTTATGGCACAGCCGGAGG[T/G]AAAACACACTCACACATTCACATCAACAAACTTTACATTCAGCTGCTGTT
Long Flanking Sequence:
AATCCCTTCCCCTTCATTATTATCTCCTCCTATTCATCAGCAGCTCCTCTCTTAACCATAAGCCCCTCCCCTTCATTATCATCTTCTCCCCTTTTCCAGTAGCCCCTCCCGTCCCAATAAGCCCCTCCCCTTTAGCATCTACTCTCTTTCATCAGCAGCTCCTCTCTTCATCATAAGCCCCTGCCCTACATTGTCATCCTCTACTCTGTACCAGTAGCTTCTCCCCTCCCAATAAGCCCCTCCCCTTTATCATCTCCCTTTCATCAGCAGCTCTTCTCTTCATCATAAGCCCCTCCCCTTCATTATAATTCACTCTGGGACAAGTTTTGCATGTAATTACTCATGGAACCTTACACAGAAATGTTCTTCTTTATGTTTTTAATGTGCTGTACTTTTGTATTTTTGAGCTTTGATGAATGATTTTCTGCTGTTTCTGCAGGCGGATCAGAGGTTTGTGTGGAACGGTCACCTGCTCCGAGAGTTTATGGCACAGCCGGAGG[T/G]AAAACACACTCACACATTCACATCAACAAACTTTACATTCAGCTGCTGTTCTCACACTCATTTGTAGGACAGGTGTTTCTGCGCCTTAATATGCAGTTGAAGACTACACTATTTGCTTTAACATTCCTTTGAAATTTTAATTCATTTTTTTTTAATTTAAGTGATGTTTCACAGAGCATGGATAATTTTAATTTCATATCATATTTTTCGCCAGAATAAAAATATATATTTTTGGCTAGAATAAAAATATATGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTACGGAATCCCGGAAGGGACATAGTGGAGGAGAAAAAAATTGGGTGGGTGAAAAAAAAATAATGGGTGAAAGAAAAAAATGGGTGGGAGGAAAATATATATTTCTAAGTTTTTGCGTTCTCTCGCAAAGTTTTGCGTTCCCTCGCTTCACTCACGTTAACCCTCCTGTTTTTGCCGAAATTCTCCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22964
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083513 Nonsense 263 586 10 20
Genomic Location (Zv9):
Chromosome 16 (position 57148283)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 53730848
GRCz11 16 53617675
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAAATCTGTGTTTTTTTCCCTCAGACTCGAGGCTCCATCCCGTTCTACTG[G/A]TCTCAGAGACCAAACCTCAAATACAAACCAAAACCGCAGATCAGCAAAAG
Long Flanking Sequence:
AATAACTGATTTATTTTTGCCATGATGACAGTAAATAATATTAGACTAGATATTCTTCAAGACACTAGTATTCAGCTTAGTGGCATTTAAAGGCTTCACTAGTGTGATTAGACAAGCTGCTGGACAACAGTGGATTGGCTTGGATTTGGCTAAGTAAAATTGTACAAAAACGTATACAAAACTGCTTTTATTAAAGTATTAAGACTTTTTCCAGAAGAAAAAAAATTATACATTAATATTATATAAACAAACTCTAGTTAAACCTTTAAATTGCTGAATACTAGTGTTTTTGCCTTTAGAGGCTGGTCATTTTCACACACTGCTGGCACACAACAGTGTTTAAACCCCTTATATAAATGATTTTTGCATTACAGGTACTAGTTGACTAAAAAAAGCTCTGCAGCAAAATGCCTTACAGTTTGAGGTGTCCTACAGTTATGAATAATGCAGTAAATCTGTGTTTTTTTCCCTCAGACTCGAGGCTCCATCCCGTTCTACTG[G/A]TCTCAGAGACCAAACCTCAAATACAAACCAAAACCGCAGATCAGCAAAAGCATCAATCATGTGAGATTCACTTCTCCCCCTGTCCAGATCTGTGTTTTATTGATATTCAGTGATGAATTGTGCTGTTTTAAAGTGTTCTTGATGGATGTTTTAAAGGCACTATATAATAAATATAATATATTATTTTGTGTGTCATTTTAAAATGTATATATATAATTCAAAATTAAATATAAACTACCTGACAAAAGGCTTGTCTCCTATTCAAGTTTTAGGAACAACAAATAATAAGTTGACTTCTAGTTGATCATATGAAAGGTAAAGGCCTCTAGATTTTGCTTATTTGAGCACAATTAAATCTGATCATGTCTTGATTATTAATGATTTGATAAGGACAGTAATGTCTGACTCTGCTTAGACTAAAGTCTCATCACTGAACAGAAATAATGTCCAGTATAGAATATAAAGTCCTGCTGCAGTGGAGACAGAATGAATATTGTGTC
Associated Phenotype:
Not determined