Busch Lab

ZMP

si:dkey-117i20.1

Ensembl ID:
ENSDARG00000078441
ZFIN ID:
ZDB-GENE-091204-125
Human Orthologue:
PPIP5K2
Human Description:
diphosphoinositol pentakisphosphate kinase 2 [Source:HGNC Symbol;Acc:29035]
Mouse Orthologue:
Ppip5k2
Mouse Description:
diphosphoinositol pentakisphosphate kinase 2 Gene [Source:MGI Symbol;Acc:MGI:2142810]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa34833 Nonsense Available for shipment Available now
sa34832 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa15105 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa34833
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109744 Nonsense 234 1242 6 29
ENSDART00000141047 None None 187 None 8
ENSDART00000144001 Nonsense 234 1224 6 28

The following transcripts of ENSDARG00000078441 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 6518306)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 6894934
GRCz11 10 6853634
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTGTTTTGGCTCATTTCTGTTCACGTTTGATCCGTTTCAGATTGGCAGC[A/T]GAAGTAGTGTCTATTCTCCTGAGAGTAATGTCAGAAAGACTGGATCCTAC
Long Flanking Sequence:
GCTTACCGTATCTTATTAGAAAGAAACCAAAATACTTCCACACATCCGATTTAAAACTCGCTTTAGATTCGATCATTTCAAGCTCTTTTTCTTCCCCGCTACTAGCAACACACTCCATTTCCGCATTACTGGATCTGTAGTGACAACAGACCGCAAAGGATGATGGCCACGCCTAGGCTGATGGGAATTGTAGTTCCTGCTACCTCCCGTTCGCTTCATTCGCCCAAGCAAACTTTTCTCAGAAATATAGTTTTATTGAGTCATGCGCCTACGGTAATATTGAAAAAAATTACTATTGCGGTATGACGGTATTTACAATATTGTTACATCCCTACGTATTAGTGAATGGAAAATACGTTTACATAAAGCACACTCACACAAATCATTCTCTGAGCTTTTGAGGGCTTGTCTAAACTTTTGCTTTGTTGAAAATTTGGCCATTTGTCTTGTGGTGTTTTGGCTCATTTCTGTTCACGTTTGATCCGTTTCAGATTGGCAGC[A/T]GAAGTAGTGTCTATTCTCCTGAGAGTAATGTCAGAAAGACTGGATCCTACATTTATGAGGAGTTCATGCCTACTGATGGAACGGATGTGAAGGTATCTCAGCCTGCATTTTCTTTAACAGAGGCTGTCGTTTGATGTTTGCTTGTGCTATATTTGACTATTATTTTTTTTTTAATTATCTGAAACATTTAAAGGGTGACATACATGCAAAGAAAATAAAGAAATCAGGAAGGGGGCAAACACTTTTCACACCAATGTATTAGAGCTGCACGATTCTGGCTAAAATGAGAATCGCGATTTTTTTGCTTAAAATAAAGATCACGATTCTCTCACGATTCTGTAGATGCAAAATAAAGGTATGGTAAAAACAAACATATGGCACAACATCGATAATAATATTATGTGTAGGTCTACTGGTTTCTATAAATAATTCTATTCTACTTATGATAATTCTGATGTTGAATTATCATGTTTGAGATATATGCTTGCAATCTGTCATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34832
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109744 Essential Splice Site 264 1242 6 29
ENSDART00000141047 None None 187 None 8
ENSDART00000144001 Essential Splice Site 264 1224 6 28

The following transcripts of ENSDARG00000078441 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 6518213)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 6894841
GRCz11 10 6853541
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATCCTACATTTATGAGGAGTTCATGCCTACTGATGGAACGGATGTGAAG[G/A]TATCTCAGCCTGCATTTTCTTTAACAGAGGCTGTCGTTTGATGTTTGCTT
Long Flanking Sequence:
CCCCGCTACTAGCAACACACTCCATTTCCGCATTACTGGATCTGTAGTGACAACAGACCGCAAAGGATGATGGCCACGCCTAGGCTGATGGGAATTGTAGTTCCTGCTACCTCCCGTTCGCTTCATTCGCCCAAGCAAACTTTTCTCAGAAATATAGTTTTATTGAGTCATGCGCCTACGGTAATATTGAAAAAAATTACTATTGCGGTATGACGGTATTTACAATATTGTTACATCCCTACGTATTAGTGAATGGAAAATACGTTTACATAAAGCACACTCACACAAATCATTCTCTGAGCTTTTGAGGGCTTGTCTAAACTTTTGCTTTGTTGAAAATTTGGCCATTTGTCTTGTGGTGTTTTGGCTCATTTCTGTTCACGTTTGATCCGTTTCAGATTGGCAGCAGAAGTAGTGTCTATTCTCCTGAGAGTAATGTCAGAAAGACTGGATCCTACATTTATGAGGAGTTCATGCCTACTGATGGAACGGATGTGAAG[G/A]TATCTCAGCCTGCATTTTCTTTAACAGAGGCTGTCGTTTGATGTTTGCTTGTGCTATATTTGACTATTATTTTTTTTTTAATTATCTGAAACATTTAAAGGGTGACATACATGCAAAGAAAATAAAGAAATCAGGAAGGGGGCAAACACTTTTCACACCAATGTATTAGAGCTGCACGATTCTGGCTAAAATGAGAATCGCGATTTTTTTGCTTAAAATAAAGATCACGATTCTCTCACGATTCTGTAGATGCAAAATAAAGGTATGGTAAAAACAAACATATGGCACAACATCGATAATAATATTATGTGTAGGTCTACTGGTTTCTATAAATAATTCTATTCTACTTATGATAATTCTGATGTTGAATTATCATGTTTGAGATATATGCTTGCAATCTGTCATATTAGACAAATTTATTCACCGGTAAAATCAGACATTTGCCATTATTAAATTATATTCAGCAATATATAGGTTAGAGTAGTTGTAGTGACATTGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15105
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109744 Nonsense 1047 1242 24 29
ENSDART00000141047 None None 187 None 8
ENSDART00000144001 None None 1224 None 28

The following transcripts of ENSDARG00000078441 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 6481324)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 6857952
GRCz11 10 6816652
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAGTCTCCCCCAAATCACTGGCTTTCACATCCAGTATTTTTGGCTCATG[G/A]CAACAGGTTTTTACCAATTTAATTCATTCTTCACAYCAACCACTAACGTA
Long Flanking Sequence:
AGCATTCACTTTTCAGTCAAGCAGAATAAGCTCACAGCCTTGTATTCGTGTATATAATATTGTGGGCTCAAAAAGCATGTCAGTCACCCATAATTCTCATCCAAAAATGTGTGTTCTTTTGGAAACTGCCACCGTCTCTTATTTGTTTTCTTTTTTTTAGTCCCCATTGCAGAAAGACTTTATCAAGACACCAGCTGGCAAAGTATGAGCACCTATAGCTGTTTGTGTTTTCTTGAGCAAAAGGCCTTCGTAGTGAATGTTGGTGGACACGTAGCCGGACTGTTGTTTAACGTTGCATGACTGTGCTGTTTCTGCCCCCTGTCTCACTTCCAGGAAGAAAGCCCCCTGAGTGTGTCTAGCCCTGACTCTATAGGTACCTGGATTCATTACACCTGTGGTGTTGGTACTGGGCGTCGAAGACGCAGATCAGGGGACCAAATAACTTCCTCCCCAGTCTCCCCCAAATCACTGGCTTTCACATCCAGTATTTTTGGCTCATG[G/A]CAACAGGTTTTTACCAATTTAATTCATTCTTCACACCAACCACTAACGTATTGTTCATTCACACTCAAGATCTTGGTGGCAGTCAGCAAGGACACCTAATGAGCAGATGAATTAAAAGAGATCCGCTATTCCCTCATTGGTCATGTTTTGTTGATGTGTAATGCACAGGTTGTGTTCTGGAATATCAGCTTTTCAACTTGAGTTAAGTATCTTTAGTTTTCATTACACTCAATCTTGATATGCATTTTCTTTATGTTCCGCATAAACAGTGTTATTGTTCTAACTAACTTGTTTAATGTAGCTTGAGTTGACTGCGATCATTACTAAATGACTAAACCCGGTCTTTATGTTTATAGTTATGGTTTAAAGTCACCTTGAAATGAATATTCTGTTTTAAAAAATGCCACACAGGCAAAAATTTTAGCATTGTTTGTAGGATATTGTAAGATAGTTAACACTTTACAGTAACTCGAACTTTACAATGTTTTTATGTCTACAAG
Associated Phenotype:
Not determined