Busch Lab

ZMP

A5PLH2_DANRE

Ensembl ID:
ENSDARG00000016212
Description:
Putative uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:A5PLH2]
Human Orthologue:
NUP214
Human Description:
nucleoporin 214kDa [Source:HGNC Symbol;Acc:8064]
Mouse Orthologue:
Nup214
Mouse Description:
nucleoporin 214 Gene [Source:MGI Symbol;Acc:MGI:1095411]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa12991 Splice Site, Nonsense Available for shipment Available now
sa20597 Essential Splice Site, Missense Available for shipment Available now

Mutation Details

Allele Name:
sa12991
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:
C > A
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035580 None None 483 None 9
ENSDART00000115182 Splice Site, Nonsense 252 2031 7 47
Genomic Location (Zv9):
Chromosome 5 (position 74991238)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 71104407
GRCz11 5 71929341
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTGTGTGTGTGTGTGTGTGTGTGTTAGTGTTGGACGTGTTGTGGCTGAG[C/A]ACCTACACTTTYGCGGTGGCGTACGCAGCAGCAGATGGATCTCTGGAGAC
Long Flanking Sequence:
AATTACCATTCCTAAGCAGCTTTACAGAAAGGTGCACATTATTACTACATTACAGTGTTCTGATGGACTTGTGGACTTGTTTGTGTGTGTGTGTGTGTCTGACAGACGTTACAGGCCAAGAAGGTGATCCCGTGTCCCAATTTCTACAGTCAGGATCACCCTGTCAAAGGTATCATTCACTGTTGTTATTGGTGTGTGTCGGCACTAGGGTTGCCTCCTAGTGCCGTTTGTGCATGACATAACGGCATTATGGACACATTACTGTCTCACACTGACCGCCAAGTCACGGTCTGAGCAGTTTAGCTAAATAAGCCGGATAATTGTCATGCGAAAATAAGATTAAGAGTGTTACTAACCAATGAAAGACATGCCTGAGCTGTGCTTCTGCAGAATTCCCTCATTGTGTGTGTATGTGTGTGTGTGTGTGTACTCATTATCTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAGTGTTGGACGTGTTGTGGCTGAG[C/A]ACCTACACTTTTGCGGTGGCGTACGCAGCAGCAGATGGATCTCTGGAGACGCCGCCGGAGCTGGTGGTGGTGTCCATACCTGTAAGTGCCTCGCACACATACCTGTGTGTGTGTGTGCATGAGTTTCTGTGAGTTTGGGTGTTCGCTTGTGCATTGGTGTATGCACACCTGTGTGTATTTCTGTGGGGTTTGTTTGTTTGTTTGTGTGTGGGTGTTTGTGTGTGTGTGGATGTTTGTGCGTTTGTTTGTTTGTGTGTGTGTATGTGTGTGGGTGTTTGTTTATTTGTTTGTGTTTGGGTGTTTATGTGTGTGGGTGTGGGTATTTGTGCGTTTGTGTGTGTGTGCATGTGTGTGGGTGTTTGTTTGTTTGTGTGGGTGTTTGTGCATTTGCTTGTTTGTGTGTGTTTGTGCGTTTGTGTGTGTGTGTTTGTTTGTTTGTTTGTGTGGGTGTTTGTGTGTGTGTGTGTGTGTGTTGGTTTTTTGTGCATTTGTGTGTGTGC
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa5342
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035580 None None 483 None 9
ENSDART00000115182 Splice Site, Nonsense 681 2031 14 47
Genomic Location (Zv9):
Chromosome 5 (position 75052316)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 71153558
GRCz11 5 71938064
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCGGGTCAGTGTTCCTCCAGCCGCTCCTGCGTCCAGCACTCCATCGGCA[C/T]AGGTACAGCWCTGATCCATAATCAGCTGCTCTGCGTGCGTGCGTTTGTGT
Long Flanking Sequence:
CACTCTTCTCTCCATATGCACCAGACACTTCACTGATTTATAGTTTATTCACAGGTAAACATTACTTTCCTATTGAGTCCTTGTAAGATGGAGTTTAATCTGGCCAGGACTCAATAGAAAAGCAATGTTTACCTGTGAATGAACCATACATCATGTTGCACTACCTGTTTTCTTCATCCTTAAATGCCTCTTTTGCACAATACCTCAGAGAAAATTGTTCTGTCTTATGTAAAAGGTCTGGTATAGTCTGTCCTAGGTTATGTGTATAGTTCAGCATTACCGCTGCAGTTTATTAGTCATGTATAGGATTAAAATGGCTCCTGCGTCCAGTGTGTGTTCATATTTATGATCATGTTTACTTATGTAGCACCGTGGTCCTGTGAGACATATTTAAGGCTCAACTTGAACTTGATGATGACGATTTTCGTGTGTGTTGTGTTTCAGTGTTGTCTCGGGTCAGTGTTCCTCCAGCCGCTCCTGCGTCCAGCACTCCATCGGCA[C/T]AGGTACAGCTCTGATCCATAATCAGCTGCTCTGCGTGCGTGCGTTTGTGTGTATAGTGAGATATAAAAACGATCCACTTGTGTTGATATTTTAATGCTCCTCACTAATTAAATGTGCTTATAAATTGTCCAGTACATATTTATTAGTATGTAATGATATGCAGTTGTTTCTATATGGGTTTAGGTTAGGGATAGGGCTAGGCCACCGACACTATTATTAATTTAACAATGGAAAACAATGGAAGTCTATGTGTGTGTTTGTGTGTGCAGGTTTAGCTATACTTGTGAGGACTCAATTGCCCTCACATATATTGTAAGAAACAAAATCGACCAACTAGTGTGTGTGTGTGACATATTACAAATGTGTATACTGATGTCATGTTTATGACACGGGTATTACAGGAGAAGGTGAATTACAAGGACATTGCTGATGTGCCCATTTCCCAACAATCGCATAAATCAGAATTGATTTTTTTTTAATTAATCTATTATTTTAATTAT
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa26638
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035580 None None 483 None 9
ENSDART00000115182 Essential Splice Site 1179 2031 29 47
Genomic Location (Zv9):
Chromosome 5 (position 75070098)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 71171340
GRCz11 5 71955846
KASP Assay ID:
2259-6927.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTTCTAACACAATTTAATTTACAGTGGTTCAGTGTAACTGTTGTTTTCA[T/C]TCACAGACGTCATTTCAGGGGGCGGTAAAAGTCTCCGCTCCGCTGGCCGG
Long Flanking Sequence:
TGTCAAAGCAGCTCAAAGGGACAGGTCACCCCAAAATAAAAATTCTGTCGACATTCTTGAATATATATAATAATTCTTTAATAATAACATCTTTTGTGTTTAACACAGTAAACAAGGTCATGCATCAAAATGAGGCAGAATAATCAGTTTTGGAGGAACTATCCCTTTAACAGATGAAGAAAAGAGAATAAACAGCCAGGGCAGTATTTGAGGAGAACTCTGGTGTCAACTAAAAACAGATTTACCTCCGTCAATCAAAGAAAATGACCCTTAAATGTTGTCTTAAACTAATCTAAGGCATTTCCTCAGTTGTGTCTTATTGCCTGTGTGTCTGTAGTGCGTCTGTTCCTGCACCGGCGGCTCAGGTGGTTCAGCAGGTTCTGGCGACGGTGGAGGCCAATAAAGTGAGTCTGCAGGAGTTGTACATCCGCAAAAACAAACATTAAACTGCCTTCTAACACAATTTAATTTACAGTGGTTCAGTGTAACTGTTGTTTTCA[T/C]TCACAGACGTCATTTCAGGGGGCGGTAAAAGTCTCCGCTCCGCTGGCCGGTCCTGCGCAGGCCACAGCAGCAAACTTTGTGTTCGGTACGTACAGATTCACACTTAAAACACAGAGTGTAGATGTTAAACAGGCCACAGGGCTTCACTTGCAGTGATTCTGAGTTGTTTTAACTAGCAAATTAGCTGATTTCAATACCATTATTATCTCTTTGTCATGATGTCAGCACATAATATTAGACTAGATATTCTTCAAGACACTAGTGTTCAGCTTAAAGACACATGTAAAGGCTTCACTAGAGTAATTAGGGTAAAGTTAGGGTAATTAGGCAAGTCATTGTATAACAGTGGTTTGTTCTGGAGACAATCCAACACTAATATTGCTGAAGGGGCGAATAATATTGAGCTTAACATGAGTTTAACACTATTAAAAACTGCTTTTATTTCAACCGAAATCAGACTTTCTCCAGAAGAACAAATATTAGAGGAAACACAGTGAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20597
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 > C
Consequence:
Essential Splice Site, Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035580 Missense 308 483 5 9
ENSDART00000115182 Essential Splice Site 1901 2031 41 47
Genomic Location (Zv9):
Chromosome 5 (position 75078639)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 71179881
GRCz11 5 71964387
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTCCTTCAGCAGCGGAGGCGGATCTGTGGCCGCACAGGGCTTTGGTTCC[T/C]TCTCCACTCCCACTAAACCAGGTCACATACATATACATACACACACACAC
Long Flanking Sequence:
TTGGTATTTTTCAGGTGAGTAACCAGTTCAAATTAATCCACATTCAATCTGAGCATCTGCTTCTGTGATTGGCTCCTTCTCTGATGATGTCAGTTTGATGCTTCAGATGCTGTACTCTTAGCCACGCCCCTCATGCAGTTAGTTTGCTATGAGGGAATAGTGCACAAAACAAAGCCCCGCCTTCTACTTAATATTCAACAACAGTTGAAATACATCAACATACTGAAATAAATCTCAGCAACGTCCTGCTCACGCTCCCTTTTAAAGGGATAGTTCACCCAGAAATCAGCACTTACAGGCCGTTGACTTTTTTTTCTTCAGTCGATTCGTATAATGCAAGTCAGTGATCGCTGTGTGTGCGTGCTGCAGGTCCGTCTAACCTGTTCGGCAGCACTGGAGCAAAGGGGTTCAGTTTCGGCAACAGTTCGTTCGGGGAGCAGAAGCCCAGCGGGTCCTTCAGCAGCGGAGGCGGATCTGTGGCCGCACAGGGCTTTGGTTCC[T/C]TCTCCACTCCCACTAAACCAGGTCACATACATATACATACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACATATATATATATATATATATATATATACACACACACATACATAAATCTCAAGACACACAGGTATAAATGTGCAAACACAAACACACACACTTATATATCACACATATAAATACATGAATACACATACATACACACACACACACGCACATATATATAAATATATACTGTATATACACACACATAAATACGCACACACACATGCATGCACATATACACAGATATACAAATATGCATGCACACATACATACACATACATAAATATATAAACACATATGCGCACACACTTATACACACACATTAATATATAAACACACATACATACACAAACATGCATACACATATACTGTATGTACACACGCACTCAACCCTACACACATCATTAAATACAGTGCAGGATA
Associated Phenotype:
Not determined