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