Busch Lab

ZMP

nphs1l

Ensembl ID:
ENSDARG00000060758
ZFIN ID:
ZDB-GENE-051102-1
Description:
nephrin [Source:RefSeq peptide;Acc:NP_001035777]
Human Orthologue:
NPHS1
Human Description:
nephrosis 1, congenital, Finnish type (nephrin) [Source:HGNC Symbol;Acc:7908]
Mouse Orthologue:
Nphs1
Mouse Description:
nephrosis 1 homolog, nephrin (human) Gene [Source:MGI Symbol;Acc:MGI:1859637]

Alleles

There are 8 alleles of this gene:

Allele Name Consequence Status Availability
sa32057 Essential Splice Site Available for shipment Available now
sa22702 Essential Splice Site Available for shipment Available now
sa22701 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa32057
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085971 Essential Splice Site 87 1242 3 29
Genomic Location (Zv9):
Chromosome 15 (position 35909506)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 36835928
GRCz11 15 36693897
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACATAACAATTGTCCCATGTCCCTTTCTTTCCTCCTCATATTTCCCAAC[A/C]GGCCAGTACCACCTTCAGATTCTAGACGTGACATTAGAAGACGACGGCCC
Long Flanking Sequence:
CTTTGATCTGGTCTATTGAACAGTCTATAATAGTTCCTCAAAATAGCAACGCGCCAGCAATGCACCTCAACCCGCCTCCTTTTATAGACCAGAACGCCTATGGGTGCACATATGAGCGCAAATGCATTTGCTATTTAAACAGCCTTGTGCAAAACGTCAAAACAAATCTTGCTCCAAGCTGAAACTAGCAAACAACAATTGTGTCATGCCTTGCGCCACATTGCGCCGAGTGTATAATAGGGCCCTTAGTATTTTCTGATGCTATTTTATTCAGTAAATGCATTTCCATTCTAATCTTTTGTGCATTTTGTCATATGGGATAAAACATTGATCCAGCTCAGTAGTTTGCATAAATTTTTCATGTGCTTTTTCTAAATTCATGCACATTTTGGCATTTCTATTATGCATTTGTTATTCCAGAATGTGCACGGTCGGAAACACAGCTATAGAAACATAACAATTGTCCCATGTCCCTTTCTTTCCTCCTCATATTTCCCAAC[A/C]GGCCAGTACCACCTTCAGATTCTAGACGTGACATTAGAAGACGACGGCCCCTACGAGTGCCAAGTGGGTCGGTCCGAGAGCAGTCGCCCCATCGTGTCCCGTACAGTCTGGCTCAATGTGCAGAGTAAGCAAACTTTCATCTTTTACCACCGAGCAAAGCTGGCGAGGGTGCAAATGGGGGAAAAAAAAAGAAGCACATGGGACAACTTTAGCCATGACAGATAGCTCAACCAAGGCCGCTAATGGCTGTGCACGCATTGAAAAGGTGACACGCGATGGCAAACCTAAACCTGTCACCATCGCCACATTCAGGGTACTAATGAGCCGAGGAGTTTGTGTGCAGTGTGCTGGAGAATCCCTTGTGCTCGGCTTCAGATAAAGTCCCATTGGTCACAGGTGTATGACAGGGCTGATAGCGCGCATTAGTGATGTGGCCAATTAGTTAGCGCACTTGGCCACCGAGGATAGGGCACTTATAGCGGGCAACATCTGAGGCTTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22702
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085971 Essential Splice Site 816 1242 19 29
Genomic Location (Zv9):
Chromosome 15 (position 35806781)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 36729917
GRCz11 15 36587886
KASP Assay ID:
2260-8857.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACTGGAATCTGTCTAATGAATGAGTTTGAACCTGTTGTGTGTTCTTGCA[G/A]TTGCTCCAGATCTTCAGAAGGGGCCACAGTGGAGGAAAGTGGCCAGTCGA
Long Flanking Sequence:
ACTTCACTGTTTTATGTTCAATTCACTTAAAGTTGGAAAAACAGTTAAGTTAACTTAAGAAGTTTGTGTTGGGACAACATGAAGGAATTGTGTGCAATCAAGCTTTTTAATTTGTTTTTACAAATTTAAGTGGATTAAACAAAATCAATTGAGCTGTCCCCCCAAAAATCAATAATTGTGTTGTTTTAACTCATTTTAAATGAGTGTTATATTGATCTGTGAAATGCATTGGAGACTGTTCTAAATATAGCTTTTTTTGATGCAGGAATGAATTGCATTAATTAATTAATTAATTTATTTATTTATTTGTTTATTTATTTATTCATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTGTTTGTTTATTTATTTTATGTTGTATATTATGGATAAATTATTATTATTATTAAATAGTAATATGGTCTGGTCTGGACAACTGGAATCTGTCTAATGAATGAGTTTGAACCTGTTGTGTGTTCTTGCA[G/A]TTGCTCCAGATCTTCAGAAGGGGCCACAGTGGAGGAAAGTGGCCAGTCGAGGGGATGGCAGCAACGATGCTAATGTGGTGTGTCAGGCTCAAGGTGTTCCTCGTGTTCAATTTAGATGGGCCAAAAATGGGTTCCCGCTGGACCTCGGCAACCCCAGGTGATTTGCTCTTGAAGTTTTGTTTTGTTTTGTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTGCTCCGTCAATATTGCTAATTTTTTGACAGTATTATCCATGTAAAACAGTAATTGAGGTAATTCAGCTGTAGTTGTAGTAGTAGTTCGTGTTGTAGTTGTAGTAGTTGTGTTTGTTGTTGTAGTTGTTGTTTTAGTAGTTGTAGTACTTGTGTTTGTAGTGGTAGTATTTGTAGTTGTTGTAGTACTTGTAGTAGTTGTTTTTGTAATAGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22701
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
ENSDART00000085971 Nonsense 949 1242 21 29
Genomic Location (Zv9):
Chromosome 15 (position 35798809)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 36721945
GRCz11 15 36579914
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGACCAGACCTCCGTTACTCTGGAGTGGATGCCTGGATTTGACGGTGGTT[T/A]GACACAGATCTTCCGTGTCAGGTGAAGCTGTCATAAATGCCGCTGTGAGG
Long Flanking Sequence:
AACATGCCTCAGAGATTTTGGGTCATATTGACGTGATAGCATCACGCGGTTGCTGCAGATTTGTTGTCTGCACATCCATGATGCCAATCTCTCGTTCCACCACAACACAAAGGTGTTCCATTGGATTGTGATCTGGTGACTGTGGAGGCCCTTTGAGTACAGTGCCTGTTTTAGCTGACAAGAGTGGCACCCGGTTCGGTCTTCTGCTGCTGTAGCCCATCTGTTTTAAGGTTGGACATGTTGTGCATTCAGAGATGCTTTTCTGCAGACCTCGATTGTAACGAGTGGTTATTTGAGTTACTGTTGTCTTTCTATCAGCAGGAAGCAGTCTGGTCATGTTGTGGCCCTGTTGTGAACGGCCCTTTAGGCACTAGTTGTTGTTAAATGCTCTGTGTTTCTCTGTCTCTCAGACCACCCTGATCCGCCATCAGACCTGAAGCTGCTCCGTGTCGACCAGACCTCCGTTACTCTGGAGTGGATGCCTGGATTTGACGGTGGTT[T/A]GACACAGATCTTCCGTGTCAGGTGAAGCTGTCATAAATGCCGCTGTGAGGTGTCTGAAACATGTGGTGTGTGTTGTTGGTGTGTTATATCAATCAGTCTGGAGTGTGTCAACAGTGCTGCACACCTTTCACTTTGACTGATGTATAAACATTACTTTCTATGTAAATGAAGTGTGATGTGATTACCTCATAGTAAATGCAGCTGTGTTTATTTTTGTATTGTAAATGAGGCATGTTTTGTCCAAATGTTTGGCATCAGGTTTGAAAGTGTGGGATTCAATATGTGAGGAGTGCAAACATACAACCAAGGATTACAATTAGCTATTAAGAGTTTTACAATGTAATGTAAATTTACAATTTGCAAGCATTGAAAAACATGGCAAAAAATTATATAAAAAAGAAACAATATAAAAGAAAAACTCCAGTTGCAGTAATTTTAATTCACAATTTATTGTTAGATTATGTTAGCCCAAGCCCATTTTATTATAATATAAGCTGTGG
Associated Phenotype:
Not determined