Busch Lab

ZMP

LOC559938

Ensembl ID:
ENSDARG00000073909
Human Orthologue:
PPIP5K1
Human Description:
diphosphoinositol pentakisphosphate kinase 1 [Source:HGNC Symbol;Acc:29023]
Mouse Orthologue:
Ppip5k1
Mouse Description:
diphosphoinositol pentakisphosphate kinase 1 Gene [Source:MGI Symbol;Acc:MGI:2443281]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa30242 Nonsense Mutation detected in F1 DNA Not yet available
sa24657 Essential Splice Site Available for shipment Available now
sa24658 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa30242
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110730 Nonsense 235 1157 6 28
Genomic Location (Zv9):
Chromosome 25 (position 19750002)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 19161979
GRCz11 25 19259930
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGAGCTCAAACACTCTGTCCTGTAGATTGGCAGCCGGAGCAGTGTTTA[T/A]TCTCCTGAAAGTACTGTCCGTAAGACTGGGTCTTACATCTACGAGGAGTT
Long Flanking Sequence:
TTGAAGTTATTAGAGTTCTAGTACTTTTTTGTGTCTTTTCCTTTCTATTTTGGGATTTTTTTCAAATATTTGTAAATTTGTTTTAGCATTTTTAGTGTTTAGCATTTTTATTAGGGTGCAACTCTGAACAAGTACAACAAACATGAAGCTTTTACATTTCAAATCCTTTTTTGCCTGAAAGGTTTCTTTTAGTTGCTTTCCATATTGCAAAAATATTGTGACATTATATCTTTGCGATATCAGAGTGTAACCTTGTAGAAAGCGAGGACCATGTGGAAGTGAATGGAGAAGTGTTTCATAAACCCTTTGTGGAAAAGCCTGTTTCTGCTGAGGACCACAATGTCTACATCTATTACCCAACCTCAGCCGGCGGGGGCAGCCAGCGCCTCTTTAGAAAGGTACAGCAATAATAACAGCAGCCATGCATTAATAACTTAAGATCTGTTTGGTCTGGAGCTCAAACACTCTGTCCTGTAGATTGGCAGCCGGAGCAGTGTTTA[T/A]TCTCCTGAAAGTACTGTCCGTAAGACTGGGTCTTACATCTACGAGGAGTTCATGCCCACAGATGGCACTGATGTCAAGGTACAAAAGTATTTCATTAGACACTATGTGGTGTTTGGATGGCTTGTTTATTTCTAGCGGTTCTCTTAGGTTTACACGGTAGGACCTGATTATGCTCACGCTGAGGCCCGTAAGTCTCCTGCTCTGGATGGGAAAGTGGAAAGAGACAGTGAGGGGAAGGAGATCCGCTATCCTGTGATGCTCACTGCAATGGAGAAGCTTGTTGCCAGAAAAGTGTGTCTTGCGTTTAAGGTAATAATACTACTACTAATAATAAATAATCTATTCAGAGAAAGTCTTTGGTTAATGGCCGACTGATTCAGAGATCTATTCAGAGTCAGTCTCCAGTTAACAATTCTGAGATTCAAATAATCCATTCAGAGCAACTCTCCAGTTAACAACTCACTGATTCAAATGCTCCATTCAGAGTGAGTCTCCAGTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24657
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:
G > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110730 Essential Splice Site 261 1157 6 28
Genomic Location (Zv9):
Chromosome 25 (position 19750081)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 19162058
GRCz11 25 19260009
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTCTTACATCTACGAGGAGTTCATGCCCACAGATGGCACTGATGTCAAG[G/C]TACAAAAGTATTTCATTAGACACTATGTGGTGTTTGGATGGCTTGTTTAT
Long Flanking Sequence:
GTTTTAGCATTTTTAGTGTTTAGCATTTTTATTAGGGTGCAACTCTGAACAAGTACAACAAACATGAAGCTTTTACATTTCAAATCCTTTTTTGCCTGAAAGGTTTCTTTTAGTTGCTTTCCATATTGCAAAAATATTGTGACATTATATCTTTGCGATATCAGAGTGTAACCTTGTAGAAAGCGAGGACCATGTGGAAGTGAATGGAGAAGTGTTTCATAAACCCTTTGTGGAAAAGCCTGTTTCTGCTGAGGACCACAATGTCTACATCTATTACCCAACCTCAGCCGGCGGGGGCAGCCAGCGCCTCTTTAGAAAGGTACAGCAATAATAACAGCAGCCATGCATTAATAACTTAAGATCTGTTTGGTCTGGAGCTCAAACACTCTGTCCTGTAGATTGGCAGCCGGAGCAGTGTTTATTCTCCTGAAAGTACTGTCCGTAAGACTGGGTCTTACATCTACGAGGAGTTCATGCCCACAGATGGCACTGATGTCAAG[G/C]TACAAAAGTATTTCATTAGACACTATGTGGTGTTTGGATGGCTTGTTTATTTCTAGCGGTTCTCTTAGGTTTACACGGTAGGACCTGATTATGCTCACGCTGAGGCCCGTAAGTCTCCTGCTCTGGATGGGAAAGTGGAAAGAGACAGTGAGGGGAAGGAGATCCGCTATCCTGTGATGCTCACTGCAATGGAGAAGCTTGTTGCCAGAAAAGTGTGTCTTGCGTTTAAGGTAATAATACTACTACTAATAATAAATAATCTATTCAGAGAAAGTCTTTGGTTAATGGCCGACTGATTCAGAGATCTATTCAGAGTCAGTCTCCAGTTAACAATTCTGAGATTCAAATAATCCATTCAGAGCAACTCTCCAGTTAACAACTCACTGATTCAAATGCTCCATTCAGAGTGAGTCTCCAGTTAATGGCTCATTGATTCAAATTATCCCCTAAGAGTGAGTCTCCAATCTTTGCCTCACTAATTTAAATTATCTGGTCAAATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24658
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110730 Nonsense 595 1157 16 28
Genomic Location (Zv9):
Chromosome 25 (position 19799986)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 19211963
GRCz11 25 19309914
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTATATTTAACATTATTTTTTTTCTGCATGGCTGTGTTCAGGGTCTGT[T/A]AGCTCTAGAAGGAGAGTTGACCCCTATCCTGGTTCAGATGGTGAAGAGTG
Long Flanking Sequence:
ATAAATGATCTGTTATTATTACAAATGATTATTTTCAAAATCCACATTAGATTAAATGATAGCTTTATTTATTTAAAAGTGTTTAATTTTTTGTTTTGTTTTTTGTTTTTTTTAATATTTTATGTATTTGTTTTCTTTTTTTGCAATTTTTGTTTTTATTATTGATTGAATTTTCATCATTTATATTATTTATTTATTTATTTTATTATTTATTTTTATTTTTATCTTTTATTTATATTCTTTTTATTTTTTATTATATTTTTATTATTATTCGATTATTTTTATAAAATGTATGTTTTCTAAAAGTCTTTAAATGAAAGATTTTGTTTATTTTAATATTTATGAATATTGATATATTGATAATATTTATTAATATTTATGATTTTTTTTCTATTAGCGTTTATGTTGTTGTGTTTTATTATTGATTAATTTATTTTTGATAATTTGATTTATTATATTTAACATTATTTTTTTTCTGCATGGCTGTGTTCAGGGTCTGT[T/A]AGCTCTAGAAGGAGAGTTGACCCCTATCCTGGTTCAGATGGTGAAGAGTGCCAACATGAACGGGCTTCTGGACAGTGACAGCGACTCACTCACCGACTGTCAGCAGAGAGTCAAAGCTCGGCTACATGAGATCATGCAGAAGAGCAAAGACTTCAATGACGATGACTACAGCAAGGTGAAGCCACTGCCTGTTTAATTCCTAATCTCAGATTAACTAAATCGATGTTAAATGTGTGCCGTGTCTTTCAGTTGGCTCCGACAGGCAGCCCGTCTTTGGTGAACTCAATGGGGATCATCATCAATCCCGTCAGGACCTGTGATCAAGTTCACACCCTCATTAAAAGCCTCACTCAGCAGATCTGCAGAAGACTGGAAGACCCCAAATCTGCTGGTCGGTGCCTATTTAAAGTGTTGCAGGCAGTGTACATTTGACGTCAGGATTTTTAGCCCACCTAAATTATTAGTCCCCTGTAAAGTTTTTCCAAAGAAGATCTTTTCTA
Associated Phenotype:
Not determined