ZMP

si:dkey-202c5.1

Ensembl ID:

ENSDARG00000069014

ZFIN ID:

ZDB-GENE-060503-715

Description:

hypothetical protein LOC560234 [Source:RefSeq peptide;Acc:NP_001124247]

Human Orthologue:

NPHP4

Human Description:

nephronophthisis 4 [Source:HGNC Symbol;Acc:19104]

Mouse Orthologue:

Nphp4

Mouse Description:

nephronophthisis 4 (juvenile) homolog (human) Gene [Source:MGI Symbol;Acc:MGI:2384210]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa1369	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa1369

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000100063	Essential Splice Site	583	1416	13	29
ENSDART00000121513	None	None	139	None	3
ENSDART00000131805	Essential Splice Site	584	825	13	17
ENSDART00000147145	None	None	520	None	10

Genomic Location (Zv9):

Chromosome 8 (position 22670521)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	22041697
GRCz11	8	22062936

KASP Assay ID:

554-1281.1 (used for ordering genotyping assays)

KASP Sequence:

TTCACCCCGGTGCACGCGCCTGTCATCACCCTCGGGACAAACGCTGCTGG[G/A]TGAGAAACATACAGACCTACAGCAACAAACAGTCCTRCACTACAGKGATT

Long Flanking Sequence:

TTTTATCCACTGTGGTGTGTTTTTTTGTAAACTTTTTTAATGCTGAGTTTTTGAACCTCTGACCTTTTTGTTATTTCAACATTGTAACCTGTTCCCTAAACTTCTGCCAATATTCTCACATAATTGGATTTTTTTTTGCACATTTGAGAATGTTCTTTTAGATCTGCTGATGAAACATTTTTAGGATGTTTCATAATCCTCACAGAGAGTGACAATCGTACACTGAAGATTTATGAGCTAAAACTTCATCAAAGCCTCTGGGTTTTTGTTCTGCAGGATTCTAAACTTCAAACTAACTTGTGAATTTGTCTGTTTTTCTCTCTTTCTGTGTGCTGATTTAAATTGAATCAGGAGCGTCCAGTTGTTGGCAGTATTGCTCATCTGGAGCTGAGCGTGCAGGAGAGAGTGGGAGACAGAAGTGAGGAAGAGGATGAGATGCAGGAGTTGACCTTCACCCCGGTGCACGCGCCTGTCATCACCCTCGGGACAAACGCTGCTGG[G/A]TGAGAAACATACAGACCTACAGCAACAAACAGTCCTGCACTACAGTGATTTACTTAGTGCACTTTCAGATTTAATCAGTTGCTTTAATACTTTTTGTCATGATCATTTTCACTCTTTTTAAGCCCCAAAATCTTTTTAAGTTAAATCTTTTCATGACCTCACAAAATTTTGTGCCAAGTTTTTATGCCAAAAGTTTTTATGCCAAAAATTAGAAAAATATGTCACAATATTTTTATAGCGATGACATAAATAGATAAACAGATGGATAGATAGATGACCTGATGGTTGGATAGGCAGATTATGCATGAATGTATAGACAGATGGATGGATAGAAAACAAAATCATTGCATTTTCCAGATAAAATCAAATGACAGATATGGGATGGATGGTTAGGTGGATAGACAGATGGATGGATGATAGATGAATGGATGGGTGGTTGTGTGCATAGACAGATGGATGAATGGATGGATGGATGGATAAATGGTCAGTTGATGAATTGG

Associated Phenotype:

Normal

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