ZMP
pi4k2a
Ensembl ID:
ZFIN ID:
Description:
Phosphatidylinositol 4-kinase type 2-alpha [Source:UniProtKB/Swiss-Prot;Acc:Q6PE18]
Human Orthologues:
PI4K2A, RP11-548K23.11
Human Description:
phosphatidylinositol 4-kinase type 2 alpha [Source:HGNC Symbol;Acc:30031]
Mouse Orthologue:
Pi4k2a
Mouse Description:
phosphatidylinositol 4-kinase type 2 alpha Gene [Source:MGI Symbol;Acc:MGI:1934031]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38300 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa8708 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa31238 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa38300
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000130675 | Essential Splice Site | 113 | 447 | 1 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 55277216)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 54060155 |
| GRCz11 | 1 | 54737806 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCTACCAGGGCTCCAGCGGCAGCTACTTCGTCAAAGATTCAGCAGGGG[T/A]AAGAGTTCATCAAACAGCAATCAGCAAGGCCTGAATTACACAACCCTGGA
Long Flanking Sequence:
GAGATCACGCACTGGCGCCGCCTCTATCCGGAAGCAGGACACTGTCATGTGATTGTTTGTTGGCGATCTGCTGTAAAGAGCCGCATCATTTCATTACGGCAACAAACAGGCGCTTGTCCCGGGTAAATTCCCCCTTTACCCACTCTCTCCCTACTCCGCCATGGACGAAACGAGCCCGCTAGTCTCGCCGCTCCGCGATTCCAACGATTTTAACTACGGGCCCGCAGAGCCGACCAGTCCCCGGGGTGGATTTGGAAGTACACCGGGCTCAGTAGTGCGTCTTCCGGCAGGGAGTCCCGGGCGCAGCCGCGAAAGACAGCCGCTGCTAGACCGAGATCGAGGCGCGTCTCCCCGGGATCCGCACAGGAACGAGTTCCCAGAGGACCCGGAGTTTCGGGAGATCATCCGGAAGGCGGAGCGGGCCATCGAGGAGGGCATTTACCCGGAGCGCATCTACCAGGGCTCCAGCGGCAGCTACTTCGTCAAAGATTCAGCAGGGG[T/A]AAGAGTTCATCAAACAGCAATCAGCAAGGCCTGAATTACACAACCCTGGAGAATCAGTTTTATGTGCAAAGTCCCTTTAAGGAGTTGTATTGTGTATTTTATTGGTCTTTGTTTACTTGTGGATCTTAGTGTGTGTGAAGAGTAACAGTTACTGCTGTGTCATATTGAGGTGAAATCTGTTTTATAAGCGCACATTTAGACTTAAATCTTCTTAATATAGTTTAGGATAAAGCATTCATTGAGGTAAAAGCTCAAATATATTTTCAGTAAAATATTCTTTGCAAATTCTGAATAAGGAAAATCAAATTAGCTGTGACTATCAACGTCAGTGGTGTAAAGTAACATTATAGATACTTAAATTACTGTAATTGAGTAGTTTTTTTCAGAAATTGAAGTTCACTAAGTAGTTTTAAAAATGTGAACTACTTTTACTTTCCCTTGAATACATATTTACATTGAGGTAAAGTTGGTTTTATATTCCCACATTCGTTCAGTGACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8708
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000130675 | Nonsense | 139 | 447 | 2 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 55287074)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 54070013 |
| GRCz11 | 1 | 54747664 |
KASP Assay ID:
2259-1218.1 (used for ordering genotyping assays)
KASP Sequence:
AGAATGAAGAGCCGTACGGCCAGCTGAACCCCAAATGGACCAAATGGCTT[C/T]AGAAGCTGTGCTGTCCGTGCTGCTTCGGCCGYGACTGYCTGGTWCTGAAT
Long Flanking Sequence:
GTGCTGTATTCTGAGATTGATTTGTTCGTTAAATATGTAGATTTATTAATCTGCCAGACTCTATTCAAACTGCATTAAAAATGACAACAATATAATTAATCAAAGCAATAAAATAAGTTGTAAATAATGTTAAAATCCTAACTAGTGTAGTGCAGTTCATTCACAATCTCTAGTGAAGGATTTACAGTGCAGAAAACACATGGTGTGATGTTTGGTCTGAAATGTGAGATGTTTCAATTTCACTTTATTTATTTCACAACATTCCTCAAGGACGTAAATTAACCCAAATTAGCCCAAATATGTAACCTGTATGTCACTGAAGGGACACCAAACTTGATTTGCTAGTCAAAATAATGCTAATCACCCATATGTTTAAGCAGTCTTATGGTAATCAGACCTCAAATGTCATCTATTTTCTCCAACAGAAGATCATCGGAGTCTTCAAACCAAAGAATGAAGAGCCGTACGGCCAGCTGAACCCCAAATGGACCAAATGGCTT[C/T]AGAAGCTGTGCTGTCCGTGCTGCTTCGGCCGCGACTGCCTGGTTCTGAATCAGGGTTATCTATCAGAGGCCGGAGCCAGTTTAGTGGACCAGAAACTAGAACTCAACATTGTGCCGCGCACAAAGGTAAGAGAGCAACATCTAGCATGAATCCAAAATCAAGACGAATGAGGACGTGAGAAGGTTTTGTATGTGTTAGTCAACCAGTTTCGTTTCCTGTTATTAAAACAAGCTAATCAACCGCAAATGTTTGCTACATCACTATTGCTTGCTACTGAGAGATGTGTATTAATTGAAGTGTTCTCTGTGCTCTGTTTCTGTCAGGTGGTTTATTTAGCAAGTGAAACCTTTAATTACAGTGCCATTGATCGAGTGAAGTCTCGAGGAAAGAGGTTAGCTCTAGAAAAAGTGCCCAAAGTGGGCCAACGTTTCCACCGGATCGGCCTGCCACCTAAGGTAAGGTTCATCACAGTGCCACCTATCTGCCTGGAGGAATTATTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31238
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000130675 | Nonsense | 170 | 447 | 2 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 55287167)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 54070106 |
| GRCz11 | 1 | 54747757 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTGAATCAGGGTTATCTATCAGAGGCCGGAGCCAGTTTAGTGGACCAG[A/T]AACTAGAACTCAACATTGTGCCGCGCACAAAGGTAAGAGAGCAACATCTA
Long Flanking Sequence:
AATTAATCAAAGCAATAAAATAAGTTGTAAATAATGTTAAAATCCTAACTAGTGTAGTGCAGTTCATTCACAATCTCTAGTGAAGGATTTACAGTGCAGAAAACACATGGTGTGATGTTTGGTCTGAAATGTGAGATGTTTCAATTTCACTTTATTTATTTCACAACATTCCTCAAGGACGTAAATTAACCCAAATTAGCCCAAATATGTAACCTGTATGTCACTGAAGGGACACCAAACTTGATTTGCTAGTCAAAATAATGCTAATCACCCATATGTTTAAGCAGTCTTATGGTAATCAGACCTCAAATGTCATCTATTTTCTCCAACAGAAGATCATCGGAGTCTTCAAACCAAAGAATGAAGAGCCGTACGGCCAGCTGAACCCCAAATGGACCAAATGGCTTCAGAAGCTGTGCTGTCCGTGCTGCTTCGGCCGCGACTGCCTGGTTCTGAATCAGGGTTATCTATCAGAGGCCGGAGCCAGTTTAGTGGACCAG[A/T]AACTAGAACTCAACATTGTGCCGCGCACAAAGGTAAGAGAGCAACATCTAGCATGAATCCAAAATCAAGACGAATGAGGACGTGAGAAGGTTTTGTATGTGTTAGTCAACCAGTTTCGTTTCCTGTTATTAAAACAAGCTAATCAACCGCAAATGTTTGCTACATCACTATTGCTTGCTACTGAGAGATGTGTATTAATTGAAGTGTTCTCTGTGCTCTGTTTCTGTCAGGTGGTTTATTTAGCAAGTGAAACCTTTAATTACAGTGCCATTGATCGAGTGAAGTCTCGAGGAAAGAGGTTAGCTCTAGAAAAAGTGCCCAAAGTGGGCCAACGTTTCCACCGGATCGGCCTGCCACCTAAGGTAAGGTTCATCACAGTGCCACCTATCTGCCTGGAGGAATTATTAAACTGATTTATTTGGATGTTACACAGTAATTTTATGATGATTAAAATGCTGTTATATCAATATATTTAGTTGGTTTTATTTATTTATGTTTTT
Associated Phenotype:
Not determined