Busch Lab

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 are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa41188 Nonsense Mutation detected in F1 DNA Not yet available
sa1369 Essential Splice Site Available for shipment Available now
sa7132 Nonsense Mutation detected in F1 DNA Not yet available
sa38686 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa41188
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100063 Nonsense 444 1416 10 29
ENSDART00000121513 None None 139 None 3
ENSDART00000131805 Nonsense 445 825 10 17
ENSDART00000147145 None None 520 None 10
Genomic Location (Zv9):
Chromosome 8 (position 22716962)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 22088138
GRCz11 8 22109377
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAATTCTGGGAAATGTGTCATCAAATTGAAGTTTTCATCTAGTGCAGAA[G/T]GAGTTTCTAGCAGCGCGGCATTGAAAGTGAGCCACCAAGAAACATCAGCA
Long Flanking Sequence:
TTGCATTTTAATAACACTTGGACAATGCTGTGACATGCTGAAAATTAAATGGGTAATTTTGCTGAAAGGCTATAAATAATCAACACAAAGCTTTGTTATTTACTCTTGTGTGCTGCATCCTAATTGTTGAATGCAATATAGTCAACACTAAGTCTTTTAATTTCAGTCTCTCTGAGAACCTGAGTTGTACTGCAACTTGTTTAAAAAGGAATTAATTGCCATTAAATGAAGCAAGAAAACAAACAGTGTCTTACTAATGTGATCTAGAATACTTTTTTTGTGAGAGTTAAGGCAAAGGGTTTTTCTACAACTTGGCACTGTGGAAGGTGTTCTTGTGTAATCTACACAAAACTAGGTTGAACAGTTGAAGGAAATAACTTAAAGCACTTAACATCTGGTAAACTCCTGAGTACAGTCCATTAAAGGAAAGTTTTGAAATGTTTTCACAGACAAATTCTGGGAAATGTGTCATCAAATTGAAGTTTTCATCTAGTGCAGAA[G/T]GAGTTTCTAGCAGCGCGGCATTGAAAGTGAGCCACCAAGAAACATCAGCACCTAAGAAGTTACTTTCAGCTTCCCAAGGTGAGTCTGGGTTTATTGTTGCTTTCCTGTGCAGAAGTGGGTACTTTCATTTGCACCTTGTTCAGATTTACAAGGCTGTGATGTTCCAGCCGGAACAATAATCAAAGAGAATAGACACCGAATTTAAACATGACTCTCAATGGAAAGTCTGCCTTCACTGCTGCAACATTTCTAGTGAATAGTATTGCAGTTGTTCTTGAAAAAAAAAAAAAAGTCGTTCTTTATTGCATGCTAACAATATGAGGATTTAGCAAAATACATTTACATCTTACACGTACAGGGTTTGAAATTAACACCCACTAACCTGCCAAATACGGGTGATAATTGACAGTGGTGGGTAATGCAAATCAGCGCACTAATCAGTTTGGCAGGTTACAGTTTATTAATTATGTTTTATCACTTTGCATGTGATCGCTATCAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1369
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
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

Mutation Details

Allele Name:
sa7132
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100063 Nonsense 586 1416 14 29
ENSDART00000121513 None None 139 None 3
ENSDART00000131805 Nonsense 587 825 14 17
ENSDART00000147145 None None 520 None 10
Genomic Location (Zv9):
Chromosome 8 (position 22662325)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 22033501
GRCz11 8 22054740
KASP Assay ID:
554-5180.1 (used for ordering genotyping assays)
KASP Sequence:
GYAACCAGTCTTTAAGTGTGCAAATGTGATTTGTGTATCTCAGCTCCTCC[A/T]GATCGACCTCCCGGAGATCTTTGGCGCAGCTCTTCTCTGCTGGTTTTCCT
Long Flanking Sequence:
TTTTTTTTTTTTTTTTTTAATGCTGTTAGGGATAAATATTTTAATTTAGTTCAGAAATGTGATGCCCAGTTATTATAATTCCAATATAACATGGCAGATCCTGCGATGTGGCTACAGCAGATTCACACATTGCGATATCGATGCCGAAATGATATATTGTGTAGCCCTAATATACGTTGTTTCACATATTTTTAAAAGAATTATGAAAATAGAAGTTTGTGTGTGTAGACTATATCTATGTGATCTATGTAATTATGATTTAAAGTAATTGATTTGACATGTTGTTTTGATACATGTTTATATTACATTTTAGAAAACACAATAGCAATGTTTTCATGTTAGATAAGAAATCAATATTTGATTAAATAATGCAGCTTTTCTATAAATTTCAATATTGAAATTAATTCAAGTGGTTTCTTAATTTCTCCATGTTGCCGTTCTATTTAGCTGGCAACCAGTCTTTAAGTGTGCAAATGTGATTTGTGTATCTCAGCTCCTCC[A/T]GATCGACCTCCCGGAGATCTTTGGCGCAGCTCTTCTCTGCTGGTTTTCCTCAGATCCTGGACCATCAGAACCAGGTGGCCGAGGTTCTGGATCCTTCTGAGCCTGTGAACTTCAACCCCCAGAGAGAAGAAGCAGATTCTCTGCAGACAAACACACTCATCCTGCAGTTCCTGGCCTTTACCAGGTTAGTATCAATGGAACACTGTTAATGTTTTATGTTTGCAGTCTCCTTTTTTTTTTTTTTTTTTAAAGGAAGCTTTTCTATGTAACTTAATATAATAGATTATATAAGTAGACCACTTGGAAATTTTCAATTTTTTAACAAAACATACTTTGTTTTGTTTTGTTCAGAAAAAAATGCTGAAATAAAAAAATTGTAATTACTAATAATTAGTAATTTAGACCATACAATGACAATTGGTCAAAACAACAAATGATGGATTTTTAAGAGTTCATTTTAATATTTTAGACAATACAATATCAATATTCTAACTTTAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38686
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100063 Essential Splice Site 764 1416 16 29
ENSDART00000121513 None None 139 None 3
ENSDART00000131805 Essential Splice Site 765 825 16 17
ENSDART00000147145 None None 520 None 10
Genomic Location (Zv9):
Chromosome 8 (position 22641316)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 22012492
GRCz11 8 22033731
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGACAGTGATTCCTTAATGCTGATTGGCTCAGCTGCTGTGGAGCTGAAG[G/A]TAGAACTGCCTATATACACATAGGTCCAAAAATGCTCTTTTTTGAGGACA
Long Flanking Sequence:
TGCGGCACTGCCAGCGTTTGATATTCATGACAGGCAGAATGTGCTGCATGCAAGAAGGATGGAGCTCAGAAATGTTTATGTAAATTTCCCACACATTTTGCTTGCTGGTTAAACTGAGCTCTGAGTGTTTGGTTTTTACATAAAAGTCCTTGATTGCTTGCTTCAGAGAATTGGACGTCACACTTTCTCACCCACCTGAGATTTGTGGGAGATGGAAGATTTACATCACTCTCATTTTAAATGGCCACTAAATCCATCCCTTTAATCACAGGCCTTTTTTCTGGCTCTTATCACTGTTCATGTTTGTTCTGTCCTCTTATGCTTCTCTTTTTTTCTCAGGTTTTCCTGGTCTGCAGCTGCAGTATCGAGTTGACCCACAATTCCTAAAGCCAGGTGAACGGGGATGGTTTCTGCGATACCTGGCACTCCACTCACTGCAGATTGATGTCTGGGACAGTGATTCCTTAATGCTGATTGGCTCAGCTGCTGTGGAGCTGAAG[G/A]TAGAACTGCCTATATACACATAGGTCCAAAAATGCTCTTTTTTGAGGACATTTTCAGCTGCTATGTCTATTAAGCACTACCCCTGACACCTAATATTTCTGTATAAAATATAGTATTAATTGTGGATGCTTTAAATTGACCAACAATGAACAATCTCTGCTTCAAATCAATGCTATTCTTTTAAACTTTCAATTGATCCCATTTATGGTTTCCTCATAAATATTAAGCAGCCAGATTGATTTAAATGTTCTAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAATGTTTCTAGAGCATGAAGTAAACAAATTGATGCTGTCATAGCAGGAATAAATGTCATTTTAAAATACATAAAAACAGACATCTGGTATTTTATTTGTAATAATACTTCATATTATTATTATTATTAATAATAAGCATAATACTTTTTCACTATATTTTAATCTAATAAATGCATATTTGGTGAGCCTAACTTTTCAAAAACATT
Associated Phenotype:
Not determined