Busch Lab

ZMP

zgc:101583

Ensembl ID:
ENSDARG00000026682
ZFIN ID:
ZDB-GENE-041212-75
Description:
hypothetical protein LOC494104 [Source:RefSeq peptide;Acc:NP_001008647]
Human Orthologue:
NIPA2
Human Description:
non imprinted in Prader-Willi/Angelman syndrome 2 [Source:HGNC Symbol;Acc:17044]
Mouse Orthologue:
Nipa2
Mouse Description:
non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:19

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa22529 Essential Splice Site Available for shipment Available now
sa45522 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa22528 Essential Splice Site Available for shipment Available now
sa35740 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa22529
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035779 Essential Splice Site 1 358 None 6
ENSDART00000126334 None 1 358 None 5
Genomic Location (Zv9):
Chromosome 14 (position 40385765)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 38548999
GRCz11 14 38889313
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCATCGATATAACTTTAATATCTTACGGGATTTTATTCTAACTGCATTT[A/G]GATGGATGTTGCAAACCGCTCGGACTTTTACATTGGTCTGGCGCTTGCTG
Long Flanking Sequence:
CTTAAAACGCCACCGATGGACGAAACTAAGGCAAGGTTGGTTGATTTAAGAATAAAGTAACATGTATTTCTTTTAAAGGTTTTAATAGTACAGCTTTGAATGTGATTATAAATAAGCGACGTAACGTAAAACAACAACAGCAGCTAAGCAAATCCCATTAAGCTTATTTCGCAAAAAAAAAAAAACTAAAAACCGTTCTCGCTTATAAATATTAGTGATTAAAGCATTCACTGCAGTTATAAAAGTTTAATGGAGATGGACACAATTGTTTTGAAGAACTAACGACGAGAAAAGCAGCAGTGAGTCACATGATTTTCTTTCTTTTTATCCTGTCAGTGTTTTAAATCGTGATATGTTCCCTACATAGACATCACTGAGACGCGTTCTATCGTTTCATATGATGGTCGAAATGCTACCTAGGTAGGCAGCTCGCTAGGTTTTTAGATAGATTTCATCGATATAACTTTAATATCTTACGGGATTTTATTCTAACTGCATTT[A/G]GATGGATGTTGCAAACCGCTCGGACTTTTACATTGGTCTGGCGCTTGCTGTAAGCTCCACTATCTTCATCGGTGGCAGTTTTATATTGAAAAAGAAGGGGCTCCTACGTCTGGCATCAAAGGGGTCCACTAGAGCAGGTGGGTAAAATGCATGTTTCCCTTACATATACAATACTCTTGTATATATGAAATGCATTGATTTTTGTTTTGTTTTTGTGTGTTTCACTTTCAGGTCAAGGAGGATATGCATACCTAAAAGAATGGTTGTGGTGGGCAGGACTAATATCAAGTATGATATAATTGTTCTATGTTTTTATTTACCATTAATGGAGATTAATTATAATGTTTAAACAGAATATGTTTTCAATCAGACGTTGCATGTGTCCGTGATTGGGGATTTCAATAATGTGATATTGGTATCTATGCATTAATATATTATTATGGACACCACAGCAACTTTTTGTTTGTGTGTGTGCGCATTTCATTTTCAGTGGGAATCGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45522
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
ENSDART00000035779 Essential Splice Site 45 358 2 6
ENSDART00000126334 Essential Splice Site 45 358 1 5
Genomic Location (Zv9):
Chromosome 14 (position 40385627)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 38548861
GRCz11 14 38889175
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAAAAGAAGGGGCTCCTACGTCTGGCATCAAAGGGGTCCACTAGAGCAG[G/A]TGGGTAAAATGCATGTTTCCCTTACATATACAATACTCTTGTATATATGA
Long Flanking Sequence:
AGCAGCTAAGCAAATCCCATTAAGCTTATTTCGCAAAAAAAAAAAAACTAAAAACCGTTCTCGCTTATAAATATTAGTGATTAAAGCATTCACTGCAGTTATAAAAGTTTAATGGAGATGGACACAATTGTTTTGAAGAACTAACGACGAGAAAAGCAGCAGTGAGTCACATGATTTTCTTTCTTTTTATCCTGTCAGTGTTTTAAATCGTGATATGTTCCCTACATAGACATCACTGAGACGCGTTCTATCGTTTCATATGATGGTCGAAATGCTACCTAGGTAGGCAGCTCGCTAGGTTTTTAGATAGATTTCATCGATATAACTTTAATATCTTACGGGATTTTATTCTAACTGCATTTAGATGGATGTTGCAAACCGCTCGGACTTTTACATTGGTCTGGCGCTTGCTGTAAGCTCCACTATCTTCATCGGTGGCAGTTTTATATTGAAAAAGAAGGGGCTCCTACGTCTGGCATCAAAGGGGTCCACTAGAGCAG[G/A]TGGGTAAAATGCATGTTTCCCTTACATATACAATACTCTTGTATATATGAAATGCATTGATTTTTGTTTTGTTTTTGTGTGTTTCACTTTCAGGTCAAGGAGGATATGCATACCTAAAAGAATGGTTGTGGTGGGCAGGACTAATATCAAGTATGATATAATTGTTCTATGTTTTTATTTACCATTAATGGAGATTAATTATAATGTTTAAACAGAATATGTTTTCAATCAGACGTTGCATGTGTCCGTGATTGGGGATTTCAATAATGTGATATTGGTATCTATGCATTAATATATTATTATGGACACCACAGCAACTTTTTGTTTGTGTGTGTGCGCATTTCATTTTCAGTGGGAATCGGCGAGGCTGCAAATTTTGCAGCATATGCATTTGCACCTGCCACATTAGTAACACCACTGGGAGCACTGAGTGTATTGGTCAGGTAAATATCTTGATTTATAATATTGCAAAATATTTAATTCTTTCTGATTTGATCAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22528
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
Order Allele From EZRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035779 Essential Splice Site 149 358 5 6
ENSDART00000126334 Essential Splice Site 149 358 4 5
Genomic Location (Zv9):
Chromosome 14 (position 40384527)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 38547761
GRCz11 14 38888075
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAGAAGTTGCTTCTTTATCTGCAATGGCAGAGAAACTCAAAGATCCAGG[T/C]AATGTTCAGTTGAATGTAACCCTTTACAGTGCAGCATGTATAAGTACACC
Long Flanking Sequence:
TTGGTTTTTGGAAGTTAAAACCTCCTTCATATCCTCCAGAGGGAAACTATTTAAAATAACTGTTCATTCTTTAAAGAAAGACCAGCCATGAATTAAAAAATCTATGCTACCAGCTATGTAAAATATTATTTGTTGTGTTTTGTTTTTTTTCAGGATTTTTCACTAAATAGAAAGCAAATACTGTATTTGTTATTAATTACAATATTTTGCCAAACTCTGTCGATCAATAAAATGCATGCTTGCAGGTTAAATGCATTAACAATCATTTTTATAAGCCTCGTACAATCTCAAACAACATTTCATTTATTATTATTTAATTTAATTCATTTTTTTGTCAGTGCGGTGCTCTCATCATATTTCCTGAGTGAACGACTGAATATCCATGGCAAGATTGGCTGTTTGCTGTGCATCTTCGGCTCTACGGTTATGGTGCTCCATGCTCCACAAGAGGAAGAAGTTGCTTCTTTATCTGCAATGGCAGAGAAACTCAAAGATCCAGG[T/C]AATGTTCAGTTGAATGTAACCCTTTACAGTGCAGCATGTATAAGTACACCCCTCACAAATCTATCTTTTAAATTCATATTTTTAATAGTAGCTATATAATATTATATTTGTGCAAATACATTAGATTAGTCAGTACTGAAGCCAAATCTGGAGCTTATCTAACAAATAGCTTGCAATAACGGTCCAACAACTAGTACACCCACATTTATATGTTAGAAAGACATCAAGAGAAGCAAAAAAATACTCGGTTTCACGATTATCACTGTCTCTCCACTCCCCTAATAGCTGGTGTGTGGTAAGCGCACTGGCGATGTTGTCCTGTGGCTGCCGTCGCATCTTCCAAGTGGATGTTGCACATTGGTGGTAGTGTGGAGAGAACTGATGTATTTATTCGCACTTGGTCACCATATCTGGACAATATAAACCTTGCTTTATGTGACATTTTGAAACTGGGAATGACATAATGAATATATAGACATTCATTCATATGTATTCTGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35740
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035779 Nonsense 234 358 6 6
ENSDART00000126334 Nonsense 234 358 5 5
Genomic Location (Zv9):
Chromosome 14 (position 40382528)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 38545762
GRCz11 14 38886076
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGGCTTTGCTCATATGCCTCGTGGTCTGCATCAGCATCCAGATCAGCTA[T/A]CTAAATAAAGCCTTGGACATCTTTAACACCTCGATAGTCACACCTATTTA
Long Flanking Sequence:
GTTCGTTTTGACTCGTTGGATGGAAACGATGCTTCATTCGCACAACTTTTATGCGATAATTAAGTTTTGCGCATAAAGTTTATTCGTATTTTTGGATGGAAACATAGCTACTGAGGGGTGGGTCTTTCGAACCACCCGAAGGCCCCTGACTACAGGCCTGAGTTATCATATCGGCCAAATTACCACTACAGTACGCTTCTGTTTCTCATTCTAGTCATTTATTTTTTTCTCTCATGACCCTCAGGATTTATTGCGTTTGCTGTCTGCATCGTCGTGAGCAGCCTGGTCCTGATTATCTTCGTCGCTCCTCGCTATGGTCAGAAGAATGTTCTGGTCTACATCCTCATCTGCTCTGTCATTGGTTCATTATCAGTGTCCTGCGTGAAAGGCCTCGGCATCGGCATCAAAGAGCTGTTTGGTGGAACGGCAGTACTCAAAGATCCACTCTTCTGGGCTTTGCTCATATGCCTCGTGGTCTGCATCAGCATCCAGATCAGCTA[T/A]CTAAATAAAGCCTTGGACATCTTTAACACCTCGATAGTCACACCTATTTATTACGTCTTCTTCACCACATCTGTCATGGCCTGTTCAGCCATTTTGTTTAAAGAGTGGCTTCGGATGTCCACTGATGGGGCTGCTGGGACTGTCAGTGGCTTTCTTACCATCATCATTGGTATTTTTCTTCTGCACGCGTTTAAAGATATTAACTTTAGCTTAGATTCTCTTCCTTTGTATCTGCATCATGGACTTCGAGGCCATGCGTATGTCGCTTTGCCCACCGATGAGAGAATTGATGAAAGCAGTCTGACTAAAGAAAGAAGTGCAACGTTTTTTCCTGACAGTTCAGATAAGAGGAGCAATGGCACCTTTATTGCCTAGTTAATAATGCTTGATGCTAGTGACTGCAGTGTGCAGCTTATTTTGCAAACCATTCACACTGTGAGGGTGCTTTAATTAGGCTTTTATTATGTATTTTTGGGGTACTTTTACATGATAAAAATTTA
Associated Phenotype:
Not determined