Busch Lab

ZMP

pip5k1a

Ensembl ID:
ENSDARG00000002614
ZFIN ID:
ZDB-GENE-050522-517
Description:
phosphatidylinositol-4-phosphate 5-kinase type-1 gamma [Source:RefSeq peptide;Acc:NP_001018438]
Human Orthologue:
PIP5K1A
Human Description:
phosphatidylinositol-4-phosphate 5-kinase, type I, alpha [Source:HGNC Symbol;Acc:8994]
Mouse Orthologue:
Pip5k1a
Mouse Description:
phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha Gene [Source:MGI Symbol;Acc:MGI:107929]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa12107 Nonsense Available for shipment Available now
sa12937 Nonsense Available for shipment Available now
sa9126 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa12107
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
ENSDART00000078358 Nonsense 44 559 4 16
Genomic Location (Zv9):
Chromosome 19 (position 11903228)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 10991959
GRCz11 19 10910884
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTCTCAGCACCTTGGGTTCATCCCARACAAACAAAAAGACCTTGGGYCAC[C/T]GAGGGATTGACCCCACTGGGGAGACCACATATAAAAAGGTGGGAGATATC
Long Flanking Sequence:
TAATTACCTCCAGAATCTGCGTTTCATGCCTTCAAACGCCACCACATGATCATTGCATGTCGGCATTCGTCTTCTGAGGCTCAGATCATTTATTAAATAAGGAAAACCTAGCGCAACAAATTCTGTTTTTCCTGTTGGTATTTGGCACCTGTTAATCAGGAATTGACAATGTTCTCTTTGATCTGAAAAGCTGCTTTATTCGAACGTCTTTTATGAGTTATTTCAGTTTTGCACATTAAGTTAATTAGCATGTTTGAATGGAAACATGGCTATTAATAAACATTTATTATATAAGTCACAGCATGTTTTGAATAACAAAAATGTATTTTCCAGAAAACAGTAGCATTTGTTGTAAATGTTGCATTGTCATCCAGATTGTTTGAACCATTCATGATTTTTCTTTGTCTTAATGTCTGTTTTATTTTACTGAGCGCTATTGTTTTTTTTAGGGTCTCAGCACCTTGGGTTCATCCCAAACAAACAAAAAGACCTTGGGTCAC[C/T]GAGGGATTGACCCCACTGGGGAGACCACATATAAAAAGGTGGGAGATATCTAACTTTTATAGAAACGTAACATACACACTCTCACAAAGCAATACATGTTTACAAATAATAGTGTGTTATAGATAAGACCAAATCAAGAGTATCAGCAGTTCAACTTCCATTCCTCAATCCGTCAAATCATTTGCAACCTGTTGCTTGTTCTGTTATCTGTTAGTTGATATTACATAGATATGATATAGTACTTCATTGTGAGACATGTCAGAATTATTTTTGCTTACAATACAGTTTGTGTTTACAACATTCAGCATCATTTAGACATCTGCAAACACTTCATTTATATGAAAATGAGACTCATTATACTGTTTTTATACATTAAATTATGCCTTAAATTTATACAATTTAAATAAAATTATATAAATTTATACATTTATTACATTTACAGTGCTATTTTTGTGGCACTGTAGATGATAAACCCAGTTAATGGTACATACAGATGAGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12937
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078358 Nonsense 119 559 6 16
Genomic Location (Zv9):
Chromosome 19 (position 11904197)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 10990990
GRCz11 19 10909915
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTAGCTCAACGCCGGGTCATCACCAYGGTGACTTCAAGTTTAAAACWTA[C/A]GCTCCCATTGCATTCCGATACTTCAGAGAGATGTTCGGGATCCGACCTGA
Long Flanking Sequence:
TAAACCCAGTTAATGGTACATACAGATGAGACTGGCAGTTTTTTTAGAGTTTTATGTAGGTCACATGCATTGTTTAAATACCTACAAATACATTTGATTCAGTGTGTTTCTAGCGTTGATGTTTACCTGGAGTAATCACAGAACTGGTTTCTTATTTCCTGTATTCACACGCTAACTTGTTTTCACTCTGCTCATCATGAACTCTTCAGACTACATCATCTGCACTGAAAGGTGCCATTCAGCTGGGAATCACACACAGTGTGGGAAGCTTGAGCCAGAAGCCAGAAAGAGATGTGCTTATGCAGGACTTTGAAGTGGTAGAAAGCATCTTCTTTCCCAGGTACGTCTGTATAAGTTAGTAACCATGAGTTAAAGGGATGTTTTGCTTCAGTAGTCACGCACTGTCACATACCTAAATGTGTTTTGCTTTGTATTACTCGCAGTCAAGGAAGTAGCTCAACGCCGGGTCATCACCACGGTGACTTCAAGTTTAAAACATA[C/A]GCTCCCATTGCATTCCGATACTTCAGAGAGATGTTCGGGATCCGACCTGATGACTACCTGGTAATTTTGTTTGCTCATTAAACTCGGTTCTCAGGTTTCCTGAAAGTATCCAGTATTTACATAGTTGTGTATTTTAGGACTAGAATAGTCAAGGTATTTTTATAGAGCTGCAACTAACGATCATTTTAATAATAGATTAATTTGTTGGTTATTTTTTTGATTAATCAATGAATTTGTTTATAAAAAAAAACAAGAAAAGCATTTATTTACAACTCTTTGTTCAAAAACAGAACTACAGTCTTTAGAAAGTGCACAAATAAACTCTGAACATCCCTGAGCTGTTATAAAAATAAAAACGGAGTAGTTTTTTTTCTGCTTTCAATCCAAGTATTTAAACATTTTCAAATCAAGATACATTTTAGACACACGAAATAGCATGAGAAATTAAGTCTTGTTTTCTGAGAAAAAACACCTTAAAATTAAGTGATTGTTTTCTTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9126
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078358 Essential Splice Site 290 559 8 16
Genomic Location (Zv9):
Chromosome 19 (position 11906241)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 10988946
GRCz11 19 10907871
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAATGACCACTACACWGCCCTCAGCAGGACCATGCAGAGAGACTGTCGGG[T/C]AAGAGCAYAGCTAGTGTTTTSCAGCCAATGATAAACATCCRGTGAAASDT
Long Flanking Sequence:
TGGAGCGAGCGGGTCTCTCTTCTACGTTTCTAGCGATGATGAGTTTATTATTAAGACGGTACAACACAAAGAAGCAGAATTCTTGCAAACACTCCTGCCAGGTTATTTCATGGTAGGTCTGGGTTTATGTATTAACGTTGTTTCATTCTTAATCACTGTCTAGTTGTTTCCTCCATATATTTGACTCTTTATCTTTTAGAACCTGAACCAGAATATGCGCACACTGCTTCCCAAGTTCTACGGCCTCTACTGCGTTCAGGCTGATGGGAAGAATATCCGAATTGTGGTGATGAACAACCTGCTGCCACGCGCTGTACCCATGCACCTTAAATTTGACCTGAAAGGCTCCACATACAAGCGACGAGCTTCACCAAAAGAGAGGTCCAAGGGTGTGCCCACATATAAAGACCTAGACTTCATGCAGGACATGCCTGAGGGCATATTGCTGGAGAATGACCACTACACTGCCCTCAGCAGGACCATGCAGAGAGACTGTCGGG[T/C]AAGAGCACAGCTAGTGTTTTGCAGCCAATGATAAACATCCGGTGAAAGGTTTGTGACTGTTTTTAATTTCATAAGGTTCCTTTTACAGCATTGATGTTGTAATATATTGAAATACAATCTGTTAAATAGACTTAAGCATTCATTTAGTTGTTCAAGGGTAAAAACGAGAAGAAAGTCTAGCGCAGAATCCCCATTGAAAACACGGGGGTATAATACATTTCCATATGGTATATAAATCAGGCAGTGAAAATCACTGATTTTAAAGGAAATCAGATCTTGTCATGGCGATTTGGGTTGGCTGAATCAAAGGTCTGTGTGCATATACCCCATTAAAGGTATTAATAGGAAACGTACTTGAATCTGTTAGCTCATGAATGTTTTATCACTGAACATTTTGGGCATTTAATCTATGCATCAGGCAACTGCATATTATTTATAAATCCCTTCATATAGAAATGTTTGTTTGAACCAGTTTCACACTTTACATTTGCTAAATGTGT
Associated Phenotype:
Not determined