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
sa42603 Nonsense Mutation detected in F1 DNA Not yet available
sa45550 Nonsense Mutation detected in F1 DNA Not yet available
sa6392 Nonsense Mutation detected in F1 DNA Not yet available
sa22702 Essential Splice Site Available for shipment Available now
sa22701 Nonsense Available for shipment Available now
sa28513 Nonsense Mutation detected in F1 DNA Not yet available

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:
sa42603
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085971 Nonsense 206 1242 6 29
Genomic Location (Zv9):
Chromosome 15 (position 35870468)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 36793604
GRCz11 15 36651573
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCTCTCTTTCTCTTTTCCAGCATCAGGGCACGAAGCTCGGACGACACG[C/T]GACGCCTGACGTGTCGAGCGAAAAACCCTGCTTCACCTCGAGCTCTGGAG
Long Flanking Sequence:
AACGGCAAAAAAAACGTACCTCCAGGTATGTATTTGGTGCTCTCCAGAAATGTATACTAGGGTACACATCGATAATGAGCCTGGGCTGTTTTATTTTGAGCTTTCTATGCAGCCTAATTTCTTAGAGTGACCCAAATTTTATATATATTTTTTGCCATAAATTTAGCAGCCTCATAAATTTAGTCTGCGGGCAAATAAATCCTGCAATCTGTGTTGAGTTTTTTCAGAAACGGGTGTCTTCTGCGTTTCGCTTTCGCTGCGCTCTTGAATAAGGTATTGCTGACAAATCAAATCCTGGAGGCCAGGTACAGTTAAGTGTACGCTGGCAGCACTCCAGAATGGCAAATGGAGGAAAGTTATGAGCTCAGTGGGTTTGTGGGTAATTGTGGCAACACCAGAGATGAGTGAGTGTCACAGTGTGAAACGCATTAGCGCAAGCCAACCCTGCTCTTTCTCTCTTTCTCTTTTCCAGCATCAGGGCACGAAGCTCGGACGACACG[C/T]GACGCCTGACGTGTCGAGCGAAAAACCCTGCTTCACCTCGAGCTCTGGAGACTGGCATGACCATGAAGGTTTACTGTAAGAATGTTGAATTATGTAGATTCACGCTCAATGTAGTGTTAATGCATAATTCCTCCTAATAATCAATCTTTAATTTTGATGTATGTATTTTTTATGTTTATGTGGTATGTGAAGTGCTAGTGGATCGGGTGTTTAAAATGTCAAAGCAGAGTCGAGTTAAATGGAGCACATGCTGTAAATAATGAAAATCTCCTTGAAGTTGTAGGTTTTCATATACAATGCAGTATACAATGCAGAGTTCATGGCCACTGCGGTGTAGTCATGTGTGCCTTTTTTATTTCAAATAATCATTTGAGTTGTTTTGGTATGAAAAAAATTTGCTTTTTCAGTTTGTGGTGGTACACTTAAAAACAACAAAATTCAGTAAAATGTATGGAAAAAAGATTGACAGCTGTTTTTTTACAGTATTTCACTAATAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45550
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085971 Nonsense 479 1242 12 29
Genomic Location (Zv9):
Chromosome 15 (position 35839860)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 36762996
GRCz11 15 36620965
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATTCTCTGTGTTTTTAAACTCCAGAACAATAAAGTCGTGCTGACCGCAT[C/A]GAAGCAGGTGTCTTCAGAGCGTGGTGTGTCACGAGAGCTGCTTCTCATCC
Long Flanking Sequence:
CTCCACCAAATGTCTTTTTACACTCAGGTTCAACTCTTCGCTTAGTCTGTTTCTCCAGTGGTGGAAATCCTACAGGTCAACTTACCTGGCTAAAGGTGTAGTGGTTCAAGATTTGATTAAGGATAGGCCACTCAAAAAAAAAAAAAAGGAAAATGTAACCATCATTTACTCTCCCTAAAACGTTTTAAACAAATTATAAATTATTTATTCTGTTAAAAAAAACACATAAGAAGACATTTTTAAGAATTTTGGAAACCAGTAGGCATTGACATCCATAATAGTTAAAAAAAAATACTATGGAAGTCAATGGTTACAGGTTTCCAGCATTCTTCAAAATATCTTCTTTTCTGTTCAACAGAAGACAGACAGACTTGGGTTAGTAAATGATCTGTGACTTTTCATTTTGGGTGAACTATCTAATTTAATGGTCTTTTATTTCTGCCATTAAATAATTCTCTGTGTTTTTAAACTCCAGAACAATAAAGTCGTGCTGACCGCAT[C/A]GAAGCAGGTGTCTTCAGAGCGTGGTGTGTCACGAGAGCTGCTTCTCATCCTTCATCCCAGTGACAATTTGGCCACCTACCGCTGTGACTCCTCCAACAAAGCCAAGAAAGTCCTGTCCACCCAAACCAAATTCAGGGTTCTGTGTATGTTTACAACACACCCACAAAAAATAATACATGTTTTAATAATGTAATGTGTTGTTTACATTTGTCACTTGTCAGAGATGTAATGCAGCATGTGATAAAAAAAAAAAGATGAATTTCTGTTTTTCATTTTCGAGACTGTCAAACATTAATAGCATGTCTTGTTAAACAATGAGTTTAATTGGCACAAGATACAAAACTATGAAAGTAATTGCATGGTTGGTTGGTTGTTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTAGTTGGTTAGTTAGTTGCATGGTTTGTTGGTTAATTAGTTTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6392
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085971 Nonsense 680 1242 16 29
Genomic Location (Zv9):
Chromosome 15 (position 35823805)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 36746941
GRCz11 15 36604910
KASP Assay ID:
554-5229.1 (used for ordering genotyping assays)
KASP Sequence:
GCTGTATCACGTCTCTTGTATGTGTTTGTGACAGAAAGAGATCCTCGTTA[T/G]ACCTTCAGTGACTGGACTCTTGAGATCGTGAACGTGTCTCGGCGGGACGG
Long Flanking Sequence:
AAGTACCTAATGTACCTAATAAAGTGGCCGGTGAGTGTATTTGAATGTGTCTGTCTGTAAAAACCCTGCAGAAAATGGATATGAATCAAACTCTACACTTTTAGTGGATGTTTATGGCTCAGTGCAGGAGGAAATGATTTTTGAGGTTTGAGAAAATGGCCTTTAAAACATGTCTTTTATTTAATAAAATGTGACAAAATGTGTGTTTTGGATGTTTTCTTTTTATTGTAATGAAAATAAAATGCTTAGCGAAAAACCATAAAGATCTAACTATAAAAAATTGCTAGCCCTGGCACATACTAGCAGACCCGTGTTTCTTCCGAAAGTGTAAAACTCATGCACATGTGCAGGGTTTGTGTTTGTTTTAGTGGTCTGGTGTTGTCGCAGCTCTGTGTGATTCCCCTGTTTCGTGTGGGTTGTGTCACGTCTCTGTGTGTGTTTCATGTGGATGCTGTATCACGTCTCTTGTATGTGTTTGTGACAGAAAGAGATCCTCGTTA[T/G]ACCTTCAGTGACTGGACTCTTGAGATCGTGAACGTGTCTCGGCGGGACGGGGGCGATTACATCATCGAGTGCTCCAACGCGGAGGGGAGCAATCGCACCAAACTCAGACTGGATGTACAATGTGAGCAACTCTAAACTATGACGTGTTATCATAGGTTTGATTCATGTGTTATGAATATGTGATTTTTCAAGTGGAAATTATTTTGTTTACAAAAAGTGCACAGAAAAAAAAAAAATATATATATATATTTTAGTTGGAAATATCGCATATATTTATTTCAAAGTATCACATATTAGTGTAAAGTATTAAAAAATGTTTGGCTTTTGTTTTTTTTGTTGTTTTTTTCAAATTAGATATAAAATAACTTGTTGTTGAAAAAGTTATACTGCTTAATATTTTTATTGCGGAAACCATAACAGACTTATATTAATTAATTAAAGGAATTAATAAAACATTCTACTGTTAAAATAATATGCACATTTAGAATATTCATCTTTCC
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

Mutation Details

Allele Name:
sa28513
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085971 Nonsense 1030 1242 23 29
Genomic Location (Zv9):
Chromosome 15 (position 35789127)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 36712263
GRCz11 15 36570232
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTGCTCTCAGATGCGAAGGAAGCTGACGGCGGGGTCTCCACAGCGGAC[C/T]AGGACTCGGCTCTTGCAGGTGCTGCATTTCTTCCTCCGGCTCACTGCAGC
Long Flanking Sequence:
GTGAGTGAGATGCTAATGGTCTAATCCGATTCAATTATTTATGCTAAGCTAAGCTAAAAGTGTTATTGCCAGACCAGGAGATCAGCTGAATGAATAAAAAAATGGTAAAACTCATCTTTATAACTCTAAGCAACTTGTAAAATTAAGCATATCTAAAATAAATATATTAAAAATGTGGAGTGTTTATCTAAGATCACATCAATGTTAAAACCTCACTTTTAGCTTTTCCTGTAGCTTTCAAATGATTCTCAATTGCCGTTATCCATTAACTTGTGTTATACGAATGTCCAAACATTCCATTTTTTACCTTAAGCTCTATCTAACCGTAGCATCAGTGCTTCAAAAGTCCCTGTTATTTTTTTTGATGTTCTGATTTTAGACTCACGGTCAGAGCAGAACAAAGTGACTGCACTCTGTAACCCCTGCGTTTTAGTGATTTACCTCTCTCTGTTTTGCTCTCAGATGCGAAGGAAGCTGACGGCGGGGTCTCCACAGCGGAC[C/T]AGGACTCGGCTCTTGCAGGTGCTGCATTTCTTCCTCCGGCTCACTGCAGCTGCTATTTATCAAATGTAGAAAAGGCCTGACACCCCAGAATTCAGATCAATTTCTCAGCTCGTACTTCAGCTTTCCATGGCCTTTACCGGCCCGTTTCATGTGCTTTCATAAAGCCTTGGGGCTCAATGTTTTCCCCGCTGCGGTTTGGTGCAGTTTTGCTCAGGCTATAATCCTGAACGCTTTGGTGCTGTTTAATGGGACACAGTGGCAGTTATTGACCCTTGGTTCGGGATAGAGAATAAACTGACATTAGCTCGCGGCGAATTCGAGGTCCGCCAGATACTGCTTTGCATTTTGATTGGGTTTGTGTAGAAAAGATTCATTAGGGTTTTCAATTTCCTCGGATAGTTCCAATGTCATCAGTTTGATTTGGGAATGATACACTGTGTGAGGGATTTTTCCTTTTTTTTTTTCAGAGAGAGATTCATCAATGTCTCTCGTCTGTGTGA
Associated Phenotype:
Not determined