ZMP

pkp4

Ensembl ID:

ENSDARG00000045331

Human Orthologue:

PKP4

Human Description:

plakophilin 4 [Source:HGNC Symbol;Acc:9026]

Mouse Orthologue:

Pkp4

Mouse Description:

plakophilin 4 Gene [Source:MGI Symbol;Acc:MGI:109281]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa11665	Nonsense	Available for shipment	Available now
sa1487	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa11665

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000110998	Nonsense	68	1134	2	21

Genomic Location (Zv9):

Chromosome 6 (position 12181837)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	12035059
GRCz11	6	12269917

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TYACCAGAGAACTCGARGAGGAGAGACAGATTGTAGCCAATCAGTTGGAG[C/T]GATGCAGGTTGGGGGCGGAGTCTCCAGGTGCTGCAAGTGACAGGTAAGCA

Long Flanking Sequence:

CATCGTGGTGTTTTCATTCAGCGTTTTTTCATACAATGGCCTAAAAGGCGCATAAAACTATGTGGATGGAACATAGCTAGTGTGTGTCTCCTTTAAGGGCAGCTGCATCAACGAGTCTGTCTCTATTAGAGAGAGGCAGGCCAACAGTGCAGTGTGTGTGTGTTCTTACACACACACATAAACAAACACACATGCACTGCACACACACACATACACAGAGACCAAGGCTTCAGGGACAGAGCAAGAGGCCACAAATTGAGAAGCAAAGAGCAGCAAGTCAGGATGGAAGTTCAGGATTAAATGTATGCATTTTGATGCTAAATTAATGTAATAACAGAAAGTGGGTATAAAGTGTGTGCTGAAGGCATGTTATGGATCTTTTTAATGATAGAAGACAGCGACGGTGACCTTTTTTTATGTCTTTTTGAAAGGAGCTCCAATTTGAACGGCTTACCAGAGAACTCGAGGAGGAGAGACAGATTGTAGCCAATCAGTTGGAG[C/T]GATGCAGGTTGGGGGCGGAGTCTCCAGGTGCTGCAAGTGACAGGTAAGCAGCGGTTCTGAAAAACGAAATTCAATTTGACTGAATTTTCAGAGGTTCAAAGGAAAAGCTTATTCTGAAAAGGAAAATCTGCCTTTAGTGTTACCTCATTGAAATGTAGGGATCATTAAAGTATAGACCATTTCAATGTGGTGATGTCATTGGCCCATAAACATTTCCTGCTTGTTATCAAACTATTTTATGTCTGTAACAAGAAACAACTCAATCATAACTTAATGGTAAAACCGCTATCATGACATTATTTATCAATATATGGCTCTTTTTTGGATTCTCAGAAGCTATAGAAATTAAAAATGACAAACAGAAAATACGTTGAGACCATTGTTTTTGTTTACATCCCTCAAAATGGTCTATTGTTTTATACATCGTGCAACAGCTTTGTGTGAGAAATGTGCTTATATAGCAGTTTTAGAGAGAGTTTGGCTTTTTACTTTTGCGTTTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa1487

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
ENSDART00000110998	Nonsense	407	1134	8	21

Genomic Location (Zv9):

Chromosome 6 (position 12144659)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	11997881
GRCz11	6	12232739

KASP Assay ID:

554-1412.1 (used for ordering genotyping assays)

KASP Sequence:

CTGCTCTCTCACTCAGGGTTTGGTACTTTACAAAGGACCACGAGTCAGTG[T/A]AGCACTCTRAGGTACCAGCGAGGGTTATTCTCTATGGGCTCCATGGCAAC

Long Flanking Sequence:

TTTGTAAAAAAAGCATTTTGAAACCTTATAAGCACCTTGAAACCTGCATTTTAATAATGCAGTCTAACCAGATTTTTCCAGTAGAAAGCAATGTTTTGATAAATGTTGCATAGATTGGATGCACCAATCAAAAGGAGAGGATTATTGATGTATTAACTAATATCTGACAGTTTCTTATCTTCATCTAGGCCTGCAAACCTCTTACAGTCAAAATAGCCAGTTAGGCCAGGACACACGCTCCCCTGACTGCCATGTCACGCCAATCTATGAAGACAGAACCTTCCAGAACCCTCTGTACCAGAGTCCAACGCACGGCTCCCAAAGCGCTGCCTCCAGAAACAATACAGGTATGTGCTGAATGTCCTTCACGCACTGCGGCTGTCTTTGCAAACTCTGAGAATGAGCTCTGACATTTCCTCAATGTTAATCTTAACAATGACTGTCCTGCTCCTGCTCTCTCACTCAGGGTTTGGTACTTTACAAAGGACCACGAGTCAGTG[T/A]AGCACTCTGAGGTACCAGCGAGGGTTATTCTCTATGGGCTCCATGGCAACGCACTCTGACACCTATCGTCCTGGACATTATCGCCAAGCCGATTCGAACTACTCCAGACACTCAGCTGCCCTTGACAACGCCGTCACTCGCTCGCCTTCCATAGACAGTGTTCACAAAGATCCCAGGTGACCAAGCGAAATCTCTGATTCCACAACCATTGCAAATGGAAGCAGTTTTAAGGGTGTGTTAAAGGTGCAGTAGGTGATATGCCAGAATGCTAACGTTGGCATAATTTTGAAAATTTACCTCCCTCCCCTTGCTGTCCAAAGTTAAGCCTCCTTAAGTGGTGAACGCACACCAAATAGATGAAGATCTGATGACGATAGACAACCTTGTATAACACAAGATTATGTCATTCATCTGTTAGAAAACACTATGGAGACACACACTTTGTCCAGCTGTTGACAGCTCAGTGTGTGCAGGAATTATATTTCCCCAATACTTACATT

Associated Phenotype:

Normal

Stage	Entity	Quality	Tag
Larval:Day 5 ZFS:0000037	whole organism ZFA:0001094	quality PATO:0000001	normal PATO:0000461