Busch Lab

ZMP

pax6b

Ensembl ID:
ENSDARG00000045936
ZFIN ID:
ZDB-GENE-001031-1
Description:
paired box gene 6b [Source:RefSeq peptide;Acc:NP_571716]
Human Orthologue:
PAX6
Human Description:
paired box 6 [Source:HGNC Symbol;Acc:8620]
Mouse Orthologue:
Pax6
Mouse Description:
paired box gene 6 Gene [Source:MGI Symbol;Acc:MGI:97490]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa9552 Essential Splice Site Available for shipment Available now
sa11497 Essential Splice Site Available for shipment Available now
sa15822 Nonsense Available for shipment Available now
sa86 Nonsense Available for shipment Available now
sa13392 Essential Splice Site Available for shipment Available now
sa20883 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa9552
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014572 Essential Splice Site 66 382 4 11
ENSDART00000053407 Essential Splice Site 66 437 3 11
ENSDART00000067248 Essential Splice Site 66 437 4 12
ENSDART00000134696 Essential Splice Site 48 81 4 6
ENSDART00000143282 Essential Splice Site 66 384 4 12
ENSDART00000144765 Essential Splice Site 48 81 4 6
ENSDART00000145946 Essential Splice Site 66 437 4 12
ENSDART00000146704 Essential Splice Site 48 68 5 6
ENSDART00000014572 Essential Splice Site 66 382 4 11
ENSDART00000053407 Essential Splice Site 66 437 3 11
ENSDART00000067248 Essential Splice Site 66 437 4 12
ENSDART00000134696 Essential Splice Site 48 81 4 6
ENSDART00000143282 Essential Splice Site 66 384 4 12
ENSDART00000144765 Essential Splice Site 48 81 4 6
ENSDART00000145946 Essential Splice Site 66 437 4 12
ENSDART00000146704 Essential Splice Site 48 68 5 6

The following transcripts of ENSDARG00000045936 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 7 (position 16647433)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 15630131
GRCz11 7 15882104
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACTCGCACACAGCGGAGCGMGACCCTGCGACATCTCCAGGATTTTGCAG[G/A]TGACTTGTGAAGCCCATTCGCACATCCAYRAGCTTTACAGCTTCTAGTTA
Long Flanking Sequence:
GTCGATTGATTCCAGCATTCTGCTGCTGATTTATAGGGCACAACGAGCTGTGAAACAGCATTCACGACTCTTAATTTAACAAACGCAGAACTTGGCTTGGATTGCTGACCAGTGATTTAGAAAATAATTATAAGTTTCCTTTGTTGCTGTCGCAATTGTACAGTTACTGATTCCACTATGTTATATAACAAGGACATTGTGATGTAAAAGAAACAGTTTTTATGCTCTAATCTGACTTGGCTTGTCAGTAACGCTGATCAAAGGAAAGCACCAAGAAGTGGAGCTTTATTCTGGACAATGGGACACCTATTGAGGGAATGTTTTCGAGGGGAAAGACGAGCCAATTTGTTCTGTATCCGTGTGCCACAGGTCACAGTGGCGTCAACCAGCTTGGCGGGGTGTTTGTGAACGGCAGACCGTTACCGGACTCCACCAGACAGAAGATCGTCGAACTCGCACACAGCGGAGCGCGACCCTGCGACATCTCCAGGATTTTGCAG[G/A]TGACTTGTGAAGCCCATTCGCACATCCATGAGCTTTACAGCTTCTAGTTAAGATGGCCACACGCAATCACCATGTTGCAAAATTATAGCAAAGCCAAATTAATTACAATTATTTTAAGCACACTCTTCAAAATAAAGGGATTGGCATTGATAGTTCCCTGAAGAACATTTAACATCCACTGAAACGGATGGTATTTTAAAGCAGGGGTTTTTAAATGTTCTTCATATTAATATTATAATGGTTCTTAGAACTTTTGAGTGAATGTGCTTTATTTTCAAGAGTGTATTCAGAGATTAAAGGGGTAGTTCATCCAAAAAATCTAAATTACCATGTGACTTTCTTCCGTTGAACACAATAGAAGATATTTTGATAAATGCTGGTTGAAGGTTCCTATTGATGGTAGGAAAAAATACTATGAAAGTCAATGGGTACAATCAACTAGCATTCTTCAAAATATCTCTCTAACAGAAGAAACTCAAAATGAACAAGTAAAAACTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11497
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
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Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014572 Essential Splice Site 66 382 4 11
ENSDART00000053407 Essential Splice Site 66 437 3 11
ENSDART00000067248 Essential Splice Site 66 437 4 12
ENSDART00000134696 Essential Splice Site 48 81 4 6
ENSDART00000143282 Essential Splice Site 66 384 4 12
ENSDART00000144765 Essential Splice Site 48 81 4 6
ENSDART00000145946 Essential Splice Site 66 437 4 12
ENSDART00000146704 Essential Splice Site 48 68 5 6
ENSDART00000014572 Essential Splice Site 66 382 4 11
ENSDART00000053407 Essential Splice Site 66 437 3 11
ENSDART00000067248 Essential Splice Site 66 437 4 12
ENSDART00000134696 Essential Splice Site 48 81 4 6
ENSDART00000143282 Essential Splice Site 66 384 4 12
ENSDART00000144765 Essential Splice Site 48 81 4 6
ENSDART00000145946 Essential Splice Site 66 437 4 12
ENSDART00000146704 Essential Splice Site 48 68 5 6

The following transcripts of ENSDARG00000045936 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 7 (position 16647433)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 15630131
GRCz11 7 15882104
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACTCGCACACAGCGGAGCGMGACCCTGCGACATCTCCAGGATTTTGCAG[G/A]TGACTTGTGAAGCCCATTCGCACATCCAYRAGCTTTACAGCTTCTAGTTA
Long Flanking Sequence:
GTCGATTGATTCCAGCATTCTGCTGCTGATTTATAGGGCACAACGAGCTGTGAAACAGCATTCACGACTCTTAATTTAACAAACGCAGAACTTGGCTTGGATTGCTGACCAGTGATTTAGAAAATAATTATAAGTTTCCTTTGTTGCTGTCGCAATTGTACAGTTACTGATTCCACTATGTTATATAACAAGGACATTGTGATGTAAAAGAAACAGTTTTTATGCTCTAATCTGACTTGGCTTGTCAGTAACGCTGATCAAAGGAAAGCACCAAGAAGTGGAGCTTTATTCTGGACAATGGGACACCTATTGAGGGAATGTTTTCGAGGGGAAAGACGAGCCAATTTGTTCTGTATCCGTGTGCCACAGGTCACAGTGGCGTCAACCAGCTTGGCGGGGTGTTTGTGAACGGCAGACCGTTACCGGACTCCACCAGACAGAAGATCGTCGAACTCGCACACAGCGGAGCGCGACCCTGCGACATCTCCAGGATTTTGCAG[G/A]TGACTTGTGAAGCCCATTCGCACATCCATGAGCTTTACAGCTTCTAGTTAAGATGGCCACACGCAATCACCATGTTGCAAAATTATAGCAAAGCCAAATTAATTACAATTATTTTAAGCACACTCTTCAAAATAAAGGGATTGGCATTGATAGTTCCCTGAAGAACATTTAACATCCACTGAAACGGATGGTATTTTAAAGCAGGGGTTTTTAAATGTTCTTCATATTAATATTATAATGGTTCTTAGAACTTTTGAGTGAATGTGCTTTATTTTCAAGAGTGTATTCAGAGATTAAAGGGGTAGTTCATCCAAAAAATCTAAATTACCATGTGACTTTCTTCCGTTGAACACAATAGAAGATATTTTGATAAATGCTGGTTGAAGGTTCCTATTGATGGTAGGAAAAAATACTATGAAAGTCAATGGGTACAATCAACTAGCATTCTTCAAAATATCTCTCTAACAGAAGAAACTCAAAATGAACAAGTAAAAACTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15822
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
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Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014572 Nonsense 68 382 5 11
ENSDART00000053407 Nonsense 68 437 4 11
ENSDART00000067248 Nonsense 68 437 5 12
ENSDART00000134696 Nonsense 63 81 6 6
ENSDART00000143282 Nonsense 68 384 5 12
ENSDART00000144765 Nonsense 63 81 6 6
ENSDART00000145946 Nonsense 68 437 5 12
ENSDART00000146704 Nonsense 50 68 6 6

The following transcripts of ENSDARG00000045936 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 7 (position 16648195)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 15630893
GRCz11 7 15882866
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTCTTAAATAATRTMTGTGAATTGTGTATATTGCTGTCCATTCAGGTGT[C/A]GAATGGGTGCGTGAGCAAGATTCTRGGGAGGTATTATGAGACGGGCTCCA
Long Flanking Sequence:
ATGTGCTTTATTTTCAAGAGTGTATTCAGAGATTAAAGGGGTAGTTCATCCAAAAAATCTAAATTACCATGTGACTTTCTTCCGTTGAACACAATAGAAGATATTTTGATAAATGCTGGTTGAAGGTTCCTATTGATGGTAGGAAAAAATACTATGAAAGTCAATGGGTACAATCAACTAGCATTCTTCAAAATATCTCTCTAACAGAAGAAACTCAAAATGAACAAGTAAAAACTTTTTGTGTGAACTATCCCTTTAAGCATGCGTTTCTCATTCAAAAAAGGTGGACACTAATGCAAAAAAAGTGTGACCCTAATTAGTCCTGAAACCATCCTAGCAATTTTAAGGCATATTTTCTGTGTTCGTAGACCCATGATGATGCAAAAGTCCAACTGGACAATAAGAACGTAAGCGTATAATCGTTTGACGTACATTACATTAGTTCACTCTAGTCTTAAATAATGTATGTGAATTGTGTATATTGCTGTCCATTCAGGTGT[C/A]GAATGGGTGCGTGAGCAAGATTCTGGGGAGGTATTATGAGACGGGCTCCATCCGACCGCGAGCCATCGGAGGCAGCAAGCCCAGAGTAGCGACGCCTGAAGTGGTGGGCAAAATCGCACAGTACAAGAGGGAGTGTCCATCTATATTTGCCTGGGAGATTCGGGACAGGCTGCTGTCGGAGGGTGTGTGCACCAACGATAACATACCGAGCGTGAGTGCAAATCAAACTTCATTTACATCATTTCATCAATACTTTGGTGGATAAATTTTTAATTTATCCACATTACAAGAAATTATACCTATGGAGCACTGTGTAAAGTGTTTAGTGCTTGACTTAACCTTTAATGTTGAATCAGATAAAGCTCAAGTAATTTTAAAGGGACAGTTCACCCCAAAATTTGAACTTTGCCATTGTTTACTCAACCAAACAAGGTTGAGTTTTGTTTGTTCTGTTGAAAACAAAAGAACATATTTTGAAAAACTTTGGAAACCACTGACTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa86
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014572 Nonsense 109 382 5 11
ENSDART00000053407 Nonsense 109 437 4 11
ENSDART00000067248 Nonsense 109 437 5 12
ENSDART00000134696 None None 81 None 6
ENSDART00000143282 Nonsense 109 384 5 12
ENSDART00000144765 None None 81 None 6
ENSDART00000145946 Nonsense 109 437 5 12
ENSDART00000146704 None None 68 None 6

The following transcripts of ENSDARG00000045936 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 7 (position 16648319)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 15631017
GRCz11 7 15882990
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAAGCCCAGAGTAGCGACGCCTGAAGTGGTGGGCAAAATCGCACAGTA[C/A]AAGAGGGAGTGTCCATCTATATTTGCCTGGGAGATTCGGGACAGGCTGCT
Long Flanking Sequence:
GGTTCCTATTGATGGTAGGAAAAAATACTATGAAAGTCAATGGGTACAATCAACTAGCATTCTTCAAAATATCTCTCTAACAGAAGAAACTCAAAATGAACAAGTAAAAACTTTTTGTGTGAACTATCCCTTTAAGCATGCGTTTCTCATTCAAAAAAGGTGGACACTAATGCAAAAAAAGTGTGACCCTAATTAGTCCTGAAACCATCCTAGCAATTTTAAGGCATATTTTCTGTGTTCGTAGACCCATGATGATGCAAAAGTCCAACTGGACAATAAGAACGTAAGCGTATAATCGTTTGACGTACATTACATTAGTTCACTCTAGTCTTAAATAATGTATGTGAATTGTGTATATTGCTGTCCATTCAGGTGTCGAATGGGTGCGTGAGCAAGATTCTGGGGAGGTATTATGAGACGGGCTCCATCCGACCGCGAGCCATCGGAGGCAGCAAGCCCAGAGTAGCGACGCCTGAAGTGGTGGGCAAAATCGCACAGTA[C/A]AAGAGGGAGTGTCCATCTATATTTGCCTGGGAGATTCGGGACAGGCTGCTGTCGGAGGGTGTGTGCACCAACGATAACATACCGAGCGTGAGTGCAAATCAAACTTCATTTACATCATTTCATCAATACTTTGGTGGATAAATTTTTAATTTATCCACATTACAAGAAATTATACCTATGGAGCACTGTGTAAAGTGTTTAGTGCTTGACTTAACCTTTAATGTTGAATCAGATAAAGCTCAAGTAATTTTAAAGGGACAGTTCACCCCAAAATTTGAACTTTGCCATTGTTTACTCAACCAAACAAGGTTGAGTTTTGTTTGTTCTGTTGAAAACAAAAGAACATATTTTGAAAAACTTTGGAAACCACTGACTTCCATACTATTTGTTTTTCCTACTATAAAAGTCAATGGTAACCAGTTTCCAACATTCTTCAAAATATCTTCTTTTCTGTTCGACAATCAAAAATGGTTTGAGACAAGTAAGGTTAAGAAAATAAT
Associated Phenotype:
This allele has been associated with this phenotype by genetic linkage analysis and may not be causal.
See FAQs for more info.
Control; 48 hpf
Control; 48 hpf
Mutant; 48 hpf
Mutant; 48 hpf
Stage Entity Quality Tag
Hatching:Long-pec
ZFS:0000033		 eye
ZFA:0000107		 decreased size
PATO:0000587		 abnormal
PATO:0000460

Mutation Details

Allele Name:
sa13392
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014572 Essential Splice Site 194 382 7 11
ENSDART00000053407 Essential Splice Site 194 437 6 11
ENSDART00000067248 None 194 437 7 12
ENSDART00000134696 None None 81 None 6
ENSDART00000143282 Essential Splice Site 194 384 7 12
ENSDART00000144765 None None 81 None 6
ENSDART00000145946 Essential Splice Site 194 437 7 12
ENSDART00000146704 None None 68 None 6

The following transcripts of ENSDARG00000045936 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 7 (position 16654435)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 15637133
GRCz11 7 15889106
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TRGTGTGAGAAGTCTGCCYGATCTTGCAACTATATATGTTAWATTTTWGC[A/T]GACGGTTGCCRGCAACAGRACAACGGTGGTGAAAACACAAACTCCATCAG
Long Flanking Sequence:
CATTTTTGTTTAATTGAAGATAAATATATATTTGGTTACATACATTTTACAATGAGGTTGCACTAGTTAGTTTATCTATTTACTAACATCAACAAACAATCAACAATACTTTCATTACAGCATTTATTAATCTTCATTTATTATTAAAGTTCAAAGCGATGCTTGTTAGCATAGGTTAATGTGCTGTGAGTTAACAAGAACTAATAACAAATGACTGCATTTTTAAAAAAGATGAATAAATAGTGTACTAAATGTATTGTTTATTATGTGTTCATGATAGTAAATGCATTAACAATTATTAACTAATGGAGCTTTACTGTAAAGTGAGATGTAATAATAATAACACATAAAAAAAAACGGAAAAAATAAAGCAATCTAGTTGCCATTTATTTCTTTTTAACTTTTGTTTCAGATTTAAGTTAAACTAAAGTAACAATACCACATGCAACATGGTGTGAGAAGTCTGCCCGATCTTGCAACTATATATGTTATATTTTTGC[A/T]GACGGTTGCCAGCAACAGGACAACGGTGGTGAAAACACAAACTCCATCAGCTCAAACGGCGAGGACTCAGACGAGACTCAAATGCGTCTGCAGCTGAAAAGAAAACTGCAGAGAAACAGAACGTCCTTCACGCAGGAGCAGATCGAGGCACTTGAGAAAGGTGAACGATCACAACTTTATTTGTATGTATACATAAATATATATATAACTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAACAGTTGAAGTCAGAATTATTAGCCCCCCTGTTCATTCGTTTAGTCTTTTTTAAATATTTGCCAAATGATGTTTAACAGAGCAAGGAAATTTTCACAGTATGTCTGATAATATTTTTTCTTCTGGAGAAAGTCTTATTTGTTTTATTTCGGCTAGAATAAAAGCAGTTTTGAATTTTTACAGAATCATTTTTAAGGTTCAAATTATTAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20883
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
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014572 None None 382 None 11
ENSDART00000053407 Essential Splice Site 325 437 8 11
ENSDART00000067248 Essential Splice Site 325 437 9 12
ENSDART00000134696 None None 81 None 6
ENSDART00000143282 None None 384 None 12
ENSDART00000144765 None None 81 None 6
ENSDART00000145946 Essential Splice Site 325 437 9 12
ENSDART00000146704 None None 68 None 6

The following transcripts of ENSDARG00000045936 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 7 (position 16655611)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 15638309
GRCz11 7 15890282
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCTTCAACACCAGCGTCTATCAGGCCATCCCACAACCCACCACACCTGG[T/C]AAACCACAACACAACACAACACATTAATTATTTCATTTTCCTTCGGCTTA
Long Flanking Sequence:
AATGCCTTATTTGCATATTTTAACACTCCATTTTAGAACACTTCTAATACAAAGGAAGCTTGCAATTCTTAATGTAATTAAAGAACTGGGGAAGTTTGATAAAAACTATTACATTTGTTTTTTTACCCTGTTCACCTGCAGTGTCTCACCTTTAAAAAAAAGTAACCCAGTTGCGCATCTCCTTTCAGAGTTTGAAAGAACACACTATCCAGACGTTTTCGCAAGAGAGAGACTTGCGGCAAAAATTGACCTCCCGGAAGCAAGAATACAGGTGAAAATGAGTTAATAGTTGAATTTTGCAAATATTGTTGTGTTTATATCTTTGGCTAACTTTATCTGTGTCTGCAGGTCTGGTTTTCAAACAGAAGAGCCAAGTGGAGGAGAGAGGAGAAACTGAGGAACCAGAGACGACAAGCCAGCAACTCCTCCAGTCACATTCCCATCAGCAGCAGCTTCAACACCAGCGTCTATCAGGCCATCCCACAACCCACCACACCTGG[T/C]AAACCACAACACAACACAACACATTAATTATTTCATTTTCCTTCGGCTTAGTCTCTATTTCAGAGGTGAACTACCAACTATTCCAGCATATTACAACACAACACAACACAACACAACAAAACAAAACACAACACAACATATTAATTAATTCATTTTCCTTCGGCTTAGTCTCTATTTCAGAGGTGAACTACCAACTATTCCAGCATATTACAACACAACACAACACAACACAACAAAACAAAACACAACACAACATATTAATTAATTCATTTTCCTTCGGCTTAGTCTCTATTTCAGAGGTAAACCACCAACTATTCCAGCATATTCCAACACAACACTACACAACACAACACAATACGTATAATTTCCTTCGGCTCAGTCTCTGTTTCAGAGGTTGCCACAGCGGAATGAGCCACCTGCTATTCCAGCATATATTTTATGCAGTGGAGGCCCTTCAAGCCATAACTCAATATTGGGAAACCCCCAACAAACAGAACACA
Associated Phenotype:
Not determined