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
sa24657	Essential Splice Site	Available for shipment	Available now
sa24658	Nonsense	Available for shipment	Available now

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