Busch Lab

ZMP

pax3a

Ensembl ID:
ENSDARG00000010192
ZFIN ID:
ZDB-GENE-980526-52
Description:
paired box protein Pax-3 [Source:RefSeq peptide;Acc:NP_571352]
Human Orthologue:
PAX3
Human Description:
paired box 3 [Source:HGNC Symbol;Acc:8617]
Mouse Orthologue:
Pax3
Mouse Description:
paired box gene 3 Gene [Source:MGI Symbol;Acc:MGI:97487]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa33020 Essential Splice Site Available for shipment Available now
sa39931 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa33020
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
ENSDART00000014350 Essential Splice Site 29 445 2 9
ENSDART00000038828 Essential Splice Site 29 509 2 8
Genomic Location (Zv9):
Chromosome 2 (position 47582162)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 47577636
GRCz11 2 47430140
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTTTAGCTTGCATACAATGTCATTCGCTGACTTTTCCTCTTTTGTTGCA[G/A]TCTCTACGCCTTTAGGTCAGGGCCGCGTGAACCAGCTCGGCGGAGTCTTC
Long Flanking Sequence:
TACATTTAGCTAATTATTTTGAAGCGTCAAAATGACTGAATTAGTTTTTTTATTACATTGAAAGAAAATCAAGCTGAATCCAGAGAAAACTGCATAATGCAGTCGAAGTGAACCAGTTTTAGTTTAGATTTAGGAAGTCAATATTAGACGTACATTTTGTACAAAGCATTTATTATAAAATATCTTATTTCTAAAAACATTGTCAGTATTGACGTACTTAAGAAATATATTTTAAAATTAAAATATGTAGTAAGAAGTAATGACTTAGATTGCTATTATCATTATTAACCATTGACATTTTACAAGCAGACTAGCTTTTTATTATGGTTAAGTAATATTTCTGAAATACATAACTAATTGTTAATATCAATAGAAGTCGCTTTATTACTGTATACTATTTATATCAGGTCAGTCAAAGGCTGTCAAGTTTTTTTTACGATTATGCTTTCACGTTTAGCTTGCATACAATGTCATTCGCTGACTTTTCCTCTTTTGTTGCA[G/A]TCTCTACGCCTTTAGGTCAGGGCCGCGTGAACCAGCTCGGCGGAGTCTTCATAAACGGGCGCCCTTTGCCCAATCACATCCGCCACAAGATAGTAGAGATGGCCCATCACGGCATACGACCGTGCGTCATCTCCCGGCAGCTGCGAGTCTCACACGGATGCGTGTCCAAAATTTTATGCAGGTACCAGGAGACCGGTTCCATTCGGCCCGGGGCTATTGGTGGCAGCAAACCCAAGGTAGGACATCACAATTTAAAGGTCATTTGATGTATTGGTAGTACTGTTTTTTATTACTGACTTCATTATAATGTTTTGGCAGTCTCGTGTACACTTTAAAAAATTGTGTTGTTTTAACTGAAATTGGGTAAAATATGGAGTAACCCAAATATTGGGTTAAATTTGGTACTATTAATTATATATATATAAAAAAAAACATGCAATTTGGTTAGTCCCTATTACACCTTTTACAAAATGAAGAGTTTAGTTTTTAGTTCACGGCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39931
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
ENSDART00000014350 None None 445 None 9
ENSDART00000038828 Nonsense 498 509 8 8
Genomic Location (Zv9):
Chromosome 2 (position 47632094)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 47527704
GRCz11 2 47380208
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGGTGAATACCAGCACTGTTACTACTGTAGAAAGACTGTCACGTGTTTA[T/A]CCTCTAAAAAGGGCTTCATTTGGATTGGTGGAATAAAGCAAAATATTACT
Long Flanking Sequence:
CACCCGGGTCGTTTGATGTCAGAATATGGTATGTTTAGCTAAAGGGTATATACAGAACTTTTAAAGTTGAATTTCATACCCTTTACTACCTTTTTTAATACCTTGAAAAAAAATTTAATACCAGCACAACTTAGAGTTGCAACTATAGTGGCGTAAATGAACTAAAGTGTTGTGTTGTTGTGTGTTTAGGTGATGGGGCTGTTGAATCCAGGCGCAGTTCCTCATCAGCCGCAATCTGATTTCGCCCTGTCTCCGCTGACGGGCGGTTTGGAGCCCAGCACAGGCATGCCCGCCAGCTGCCACTCCTCTCAGAGACTGGAAGCTCTGCCAGGCCTTCCCAGCATGCCAGCTCTGCCCAGCTCCCAGTCCTACTGCCCGTCCAGCTACAGTTCACCCGGGTACAGCGTCGACCATGTGGCGTCTTACCAGTACAGCCAATATGGGCAGAGCAAGGTGAATACCAGCACTGTTACTACTGTAGAAAGACTGTCACGTGTTTA[T/A]CCTCTAAAAAGGGCTTCATTTGGATTGGTGGAATAAAGCAAAATATTACTTAATTGAATTGCTCTCAATAATGTCAGAAGATTATTTATGTTCATGAGACTTTGTCAAAATTTTTTGCAACATACTATGTAGTCTTAATTATGTGGAAATTTTTACACAACATTTACATCATTTTAACCAAAGAACCAAAATGCAATTAGCCACCTTGTTCAAATCTATATGATATTTTGGAAAGATGTTCTACTTGGTTATACACTGTAAAAAGTGATTAGTTACTTGATTAAAAAAAAAAAAAATTGAGGTAACCTGTTACCTTAAAAGTGACAAGTTGACTTTGAGTAAACCTGTTGTAACGCAGAACTGTTATTATTACTCACATAGTTCATTTACCTAAATTTTTTTAACCTCTTAAGACCAAAGGTGTTTTTTTTACATGCATTTTTTATTTCTCTTTGCTATTTGGGCTCATTGGAACCTAATTAGAATAAAAACCTAAGTAT
Associated Phenotype:
Not determined