ZMP

PKHD1L1 (1 of 3)

Ensembl ID:

ENSDARG00000093191

Description:

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 [Source:HGNC Symbol;Acc:20313]

Human Orthologue:

PKHD1L1

Human Description:

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 [Source:HGNC Symbol;Acc:20313]

Mouse Orthologue:

Pkhd1l1

Mouse Description:

polycystic kidney and hepatic disease 1-like 1 Gene [Source:MGI Symbol;Acc:MGI:2183153]

Alleles

There are 6 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa18556	Essential Splice Site	Available for shipment	Available now
sa987	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa18556

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:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000135830	Essential Splice Site	535	1019	None	25

The following genes are also affected by this mutation:

ENSDARG00000091116

Genomic Location (Zv9):

Chromosome 19 (position 23348269)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	23277684
GRCz11	19	22862007

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TGAGAAACAGCAGATCAACGCATACTACTCTATACTACCTGAAAAAYAGG[T/C]AAGTGAACTCACTTTAGGCAGAGTTCAAAGATTATCTAAAGATAAGATGG

Long Flanking Sequence:

GTTTAGGGGCGGGGTGTGGTGCCACGCCTCCTTTTTAAGATAATACATTTTCGTATGTTCAAATTTGTACAAATTAGCTACTAAATTGACAAAATGTAATATAGTTACATTTCCTTGTGAGATAAGACTGGCTATTCCGACGTGTGTTCTCAGAAAACAGTACAGTGTTTAAACCAAGACATTAACTGCAGTGCCATGTGATCGATAAAACAAATTGCAAATTTACAAACATACTGAAGACAATGGAGTTTTTCTTGTTAAAATAAACATAAAAGGTCTTGTTTTCTCCAATCTTGGATCTAAACATTTTCTCTGTATAATTCTTTCAATGTGCTGCAGGTACTACATCGAAGTTCTAATGCAGGAATATGCAGTAGTAGCATCAGTAGATGTGGGCTTTTTCAAAGAGGTCAGCCCTTTCACGGCCCAGCAGACAATAGAGTCTGTTAATGAGAAACAGCAGATCAACGCATACTACTCTATACTACCTGAAAAACAGG[T/C]AAGTGAACTCACTTTAGGCAGAGTTCAAAGATTATCTAAAGATAAGATGGAAGGAAGCCTTAGAAAAATCTGCAAACTTAATAGGAGAAAAGTTTTTCTGTCTGTACTGTATGTGTGTGTGTGTTTTAAACTCTATTAATACTGCTTTAGGTGATACGTTTTGATGGATGGACACCAGTAACTGCTGTGAATGAGGTTCAAACTTTAAGAATCAGCAGTGACTGTTTTTCTCAGGGCACATGTGAAAACACATACTACTCACTAGGATATGGAAATCTTACAACAGGTGTAATACAATACAATGGTTCTAAGAATGTGTTTAAAGGAGCCAAATATTCGTTTTTTAATTCACTTCTAAATTTTTACATGTTTGTGATACTTTTATTTGCATGTGTTGTAATGTTTACTGTAATTAATTACTGTGCGTGTTGTAGGACCGATCCCTGTCAGTGCTTCAGCAATGGATTTGCAGAATGCTCTGAATGACTTGTGGACGATTA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa987

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
ENSDART00000135830	Nonsense	709	1019	19	25

The following genes are also affected by this mutation:

ENSDARG00000091116

Genomic Location (Zv9):

Chromosome 19 (position 23349482)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	23278897
GRCz11	19	22863220

KASP Assay ID:

554-0891.1 (used for ordering genotyping assays)

KASP Sequence:

AATGTCCAGCAGAGATTCCAACCGCTGAGAACAGTAACGTGAAATTTTTC[A/T]GAGATTATGAGATGACCACCACAGGGGTAAGCTGCAAATGCACATGATCA

Long Flanking Sequence:

AAACATGTATAATAATATTTAAAGATGATATTTTTTATTTTGCGTATGAATTTAATTTTAAATTAAGTAAAAACTGAGTAATTTGCCAAATCAAAAAATATGTTTTATAACATTTTGAAAATGATCTCAGGTGACTTTGAGGATTTCGATTACATGATAATGGACTTAGATACGAACATCACAGTGACTGAAGCTGTGAAAGGGAAGGCCAGCATGGAGACATTTACGCTGCTGTGGGCAGAAGTTCCATCCCTCCCTCTGCCTTTCAATGCTTCTGAAACTGAGGTTCACCTTTGCTTTATATCTCTTAAAATTGACCATAGAATGTGTACCAAACTTTTACAACTTTTCTTTAAATGTTTCATACCTATATGATGGGTTTCATCTGTGTTTATTTTGTTTTTTATCAAATAAAGGTGCGTTCAGCACTAGATTTGATGATCACAGCTAAATGTCCAGCAGAGATTCCAACCGCTGAGAACAGTAACGTGAAATTTTTC[A/T]GAGATTATGAGATGACCACCACAGGGGTAAGCTGCAAATGCACATGATCATACGGTACATGTTTTACATGCTGAGCACTATTTAGTGAAGTTTATTCATAAACTAATTTCGAGAGGAGCACGTGATTATGATTGAACACGGCTGGTTCTGCATTAGCATGCTTGATCCACCAATCAGGCCATTCCTAACCACTATAAAGAGCCAGGGTTTTCTCACTACAGTTATCTTCGATTTGAAGAATCCCCCCTTCCACCCCTACCTTTTCACCTTTCCCTCCATAGGGCAGCACGGTGGCTCAGTGACTAGCACTGTCGCCTCACAGCAAGAACGTCACCGGTTCTAGTTCCTTAACAGGCCGGTGGTCGTTTCTGTGTGTAGTTTGCATGTTCTTCCCGTGCTTGCGTGGGTTTTCCCCGGGTTCTCCGGTTTCCTCCCACATTCCAAAAACATGTACAACAAGTTAATCGTTAAATCTAAATTTCAATACAGGTAATCTAATA

Associated Phenotype:

Normal

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