Busch Lab

ZMP

pip5k2

Ensembl ID:
ENSDARG00000031020
ZFIN ID:
ZDB-GENE-030828-9
Description:
Phosphatidylinositol-5-phosphate 4-kinase type-2 gamma [Source:UniProtKB/Swiss-Prot;Acc:Q6IQE1]
Human Orthologue:
PIP4K2C
Human Description:
phosphatidylinositol-5-phosphate 4-kinase, type II, gamma [Source:HGNC Symbol;Acc:23786]
Mouse Orthologue:
Pip4k2c
Mouse Description:
phosphatidylinositol-5-phosphate 4-kinase, type II, gamma Gene [Source:MGI Symbol;Acc:MGI:2152214]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa44034 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa14193 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa44034
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
ENSDART00000042701 Essential Splice Site 87 417 2 11
Genomic Location (Zv9):
Chromosome 23 (position 36665677)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 36497154
GRCz11 23 36619615
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTTCAAAGCCAACACCAAAATTAAAGTGAACAACCACCTCTTCAACAAG[T/G]ATTTATCAAAAGCTCATCATTTTTTTACACACATTTTCCTCAAAAAGCGA
Long Flanking Sequence:
GTAATTAGCATACATTTATTTTCTTAGTGCTTGAAATCCCCTTTTTTACATTGATCAACATGTTAAAAAAGTACATATATTTCTTTTCTATGCACATTTTTTAAATCCAAATGTACCAGTTTAGTACAAATACACTAGCTTATGCAGTCGATCCATATGACCACAGTTAGACTGTTTTGAGATCCTGAGGGAATAAACTGCCTTTAGGTAGAAGTTTGTTTTATGGAGCATTTGCCATTGCACAATGAGAAGACTGGGATATCTTCGCCAAATGAGATGTGTTAGAAAAGGTCGAAAACAATCAAGTCATTCAGTGTTAGGATATGGAAAACCTGCATGTACAAAGGTCATTTCCTACATTAAAAACCTGCATTTTTTTGGTCCCCTCTCTGTTTTTGCAGATCAATGATTTAAATCAAGTTCCAGTGCCTGTCATGCTGCTCCCTGACGACTTCAAAGCCAACACCAAAATTAAAGTGAACAACCACCTCTTCAACAAG[T/G]ATTTATCAAAAGCTCATCATTTTTTTACACACATTTTCCTCAAAAAGCGATCTTATAAGTACAGGGTATCTGGAGGGTCTTAACATGTCTTAAATTTCAAATTTTAGCCCTTAAGAAGTCTTAAATCCACTGAAATATTGTGTTGTAGGCTTTAATAATTTTAAACGTGTCTTAGTTTTCCTGTCCATGTAAAGCTATACCCAGTTGGGCCAACAACCACCCAATCACATTTTAAAAAGCGTTTATTTATTAACTCTATATATTTGTTTTGTTTTTCCTTGGCAATTAAAAAAATCTTTAGCGTTTAGCCTTGTGTAAGTCTGAAATTTCATTCATTATTGTCTTAAAATGGTCTATAAAAGATCTTAAAAGTTCTTAAATTTGACTTGATGAAACCTGTAGGAACATGCTTAAATTTGTTTAGATGGGTTATTGTAATTACTAGGTATGCACTATATATTGGCGGCCATATCGTTATCGGCCGATAAATGCTATTTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14193
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
ENSDART00000042701 Nonsense 110 417 3 11
Genomic Location (Zv9):
Chromosome 23 (position 36672261)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 36503738
GRCz11 23 36626199
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTTTAAGTTCAAGGAGTATTGTCCACAAGTTTTCAGAAACCTCAGGGAG[C/T]GATTTGGAATTGAAGATCTTGAYTACCAGGTGACTTTTGTTTAKWATTAT
Long Flanking Sequence:
ATGATCCAACTTTAATGAAACATGGTTTTATTTGAATTGTTGAATCATTAATTGAAAATAAATATGATATGCTGTTAAAGATGTTAGATTTCTAAATTTAGTATTATCAGCAACAGTAGCAGAGATCATTTTCGTATTAAATATTTTCCTTTTTTTTTTCCAACTAGTTCTTTCTTAATTTTTTTAAAATTTAAATGACAGGTTCTAAGTTATGTTTGTTTAAACCAATGTTTTTTGCTGTGATATTTTTGTATAAAAGGAAAGCAAATGATGTTTGTCGTCTCCCTTTTTTGCTGAAAAATGGTCTGATCTGTGACTCAAAAACCGTAGTGTGATCTGAACCGTGAGACGTGTGATCTGTTACACCACTATAAGAAATGGAGTGTGTTACATGCAAGTATGATTTTTGAAACGACCCTTCTGTGTCTTACAGGGAGAATCTTCCAAGCCATTTTAAGTTCAAGGAGTATTGTCCACAAGTTTTCAGAAACCTCAGGGAG[C/T]GATTTGGAATTGAAGATCTTGACTACCAGGTGACTTTTGTTTATTATTATTTAAAGGGGACCTATTATGCCCCTTGTCCCTGATAAGCTTGGAGTGTGTATATAAAGTGTCACCTCAAAATATCTCACAAATAATGCTTTATAACTCTGACCCTTTTAGGCTTTAAGCCAAATTGTGCCATTTTGTTGACTTGCTTTAAATTCAAATGAGATTGTGCTCTTTTGAAAAGTGGGCGGAGCTACAAACGCCTATGCATCAGCACTGTGGCAGTCAACTAAATATGTCAATAGAAGTGGCTCAAAAAATGGCAGTCTATTGAGACTATAGTATTTGTTTGTGCACCCTAAGGTTTTAAAACGCATAAGTTTTGCTACGGTTACGCCATCTGTCCACACTACACCACAAACGCTGGAGAGGCTGTTTTCATTCTAAAACGCTGCTGCTCCGTTTCAGTGTGGCTGAGGAAAAACGGAGACATCTGAAAACGGAGGCGGGGCGGC
Associated Phenotype:
Not determined