Busch Lab

ZMP

fbn2b

Ensembl ID:
ENSDARG00000016744
ZFIN ID:
ZDB-GENE-090112-3
Description:
fibrillin-2 [Source:RefSeq peptide;Acc:NP_001129262]
Human Orthologue:
FBN3
Human Description:
fibrillin 3 [Source:HGNC Symbol;Acc:18794]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa13470 Nonsense Available for shipment Available now
sa16275 Essential Splice Site Available for shipment Available now
sa24062 Nonsense Available for shipment Available now
sa12625 Essential Splice Site Available for shipment Available now
sa43757 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa13470
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008681 Nonsense 152 1862 4 42
Genomic Location (Zv9):
Chromosome 22 (position 4001730)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 4109072
GRCz11 22 4561920
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGTGCGACTGTCCTCCAGGACACCAGCTCAGTACTGAGGCCTCTGCTTG[T/A]GAAGGTACAGTATAGTGTTTGTSTTTGTGTGAAGCTGACNTTTTGGTTTA
Long Flanking Sequence:
TGATTAATATTAATTGGATATTTGTTTACATTTCAAATACATGGTCGATAATTGATACTGACTGATATATATTTTGTTACTCTATTTTTGTTACTCTATATGCAAGTAAATTTAAGAGAAATATACAAAATACAAAAAAACATCTGTAACGTTTTTCCCCATGATTCCTGCAGATATCGACGAATGTACGATCTCTCCGGACCTGTGTGGTCATGGTGTGTGTGTGAACACACCAGGCAGCTTCGAGTGCGAGTGTTTCGACGGCTACGAGAGCGGCTTTATGATGATGAAAAACTGCATGGGTGAGTGTCAGAGCAGTGGTGTTTTATCTGAGATTGTGCTGGTGGCCTCTTCATGTGTGTGCTTGTGTGTGTTTTAGACATTGACGAGTGCGAGCGTGACCCACTGCTGTGCCGTGGAGGGACGTGTCTGAACACTGAGGGCAGCTACGAGTGCGACTGTCCTCCAGGACACCAGCTCAGTACTGAGGCCTCTGCTTG[T/A]GAAGGTACAGTATAGTGTTTGTCTTTGTGTGAAGCTGACATTTTGGTTTAAGTTTTAGTCACGTTCATACTATTTTTAGTCTACTCAGGTTTTAGTCAAGCATTTTAGTCTTATTTTAGTCAGAATCACGAAAACTGATGACGTTTACACCTGTCTGGTAACATTTTTCTGCAATTTTTGAAATGTTGTCCATATTTTTGACTGATTTCTCTCTATCAGATGTGAACGAGTGTCAGCTGAGTGACAATCTGTGTAAACACGGTCAGTGTGTGAACATGGTGGGAACATACCAGTGCTCATGTGAAACGGGATACCAGGTGACGCCCGACAGACAGGGCTGTGTGGGTGAGCAGACGCACACACAACACACAAACAGAGAGGTTTGTTTTCCTATCTTAGCGAGGACATATTATAGACTTCCATTGTTTTTCTATCAGGGTAGTTACACTGTCTATGGCCAAACCACAACTCTACCCCGACAAACTTTATATTTTGAAGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16275
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008681 Essential Splice Site 196 1862 6 42
Genomic Location (Zv9):
Chromosome 22 (position 4003474)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 4107328
GRCz11 22 4560176
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATGAATTGTGTATATATAAACGGGTAAATTTGTATCTCTTGACGCCTCC[A/C]GATATCGACGAGTGCACCATCATGAACGGYGGCTGCGACACACACTGMAC
Long Flanking Sequence:
GGCTCACCATATTTCTTTAAAAGCACTGTGAGATAATGAGTGTGCTCCACTTAGGTGAGTGGGCTTGACAAACCACCTGACACTCTTTTCCTCTCCATAAGCATCACACACCTTCTTATAAACACTTCATACTTCTTAAAAACATTGTGCGATACTGAGTGTGCTCCATACAGATGAGTGGGCTTGACAAACCACCTGTAGAAGACACACTCACTCTATTTCTCTGCATATGCACCACACATTTTCTTATAAGTTCCTTAGACTTCTTAAAACACATTGTGCGATGCCGAGTGTGCTCCACATAGGTGAGTGGGCTTGACAAACCACCTGTAGGGCACACTCCTCAGGAAGTAATCTAAATAAATATGTAAGAAGTAACTTACACTCGTCATAGCATTTATATACAGCAACTCTCTTTTGAAGTGCTTATTTTGTTCTCACTTGTCTATATATGAATTGTGTATATATAAACGGGTAAATTTGTATCTCTTGACGCCTCC[A/C]GATATCGACGAGTGCACCATCATGAACGGCGGCTGCGACACACACTGCACAAACTCGGAGGGAAGCTACGAATGCAGCTGCAGCGAAGGATACGCGCTCATGCCTGACCTCAGGACCTGCGCTGGTAACACACACTGTCAAACTCGCACACATTTACATACACGCATACAAACTGACCTCTCAGAATGAGCCGTGTGTCTCTCTGCAGACATCGACGAGTGTGAAGACACACCAGATATCTGCGACGGCGGCCAGTGCACGAACATCCCCGGAGAATACCGCTGTCTGTGCTATGATGGTTTCATGGCCTCTATGGACATGAGGACATGCATCGGTGAGACACATGCATACACACACACACACACACACACACACACACACACACTAACAGAGTTTGATTTATTTACATTTTCATTTTAATATATCAGATTTGTTGGTTGAATTTACTTTAAAATAACAAGAATGTGTTATGTTTTTCTTTCTCTGATTGCACATATTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24062
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008681 Nonsense 759 1862 19 42
Genomic Location (Zv9):
Chromosome 22 (position 4015574)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 4095228
GRCz11 22 4548076
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTGTGTGGTAATCAGGCTCCTGGTTTCATCATCGACATCCACACTGGA[A/T]AACCCATCGGTGAGTCCACTTAATAATGATGATAATAATAATACTTCAAA
Long Flanking Sequence:
TATATATATATATATATATATATATATATATATATATATATATATACATACACACATACACACACACACATATATATATTTTTATATTTTATACATACATCCATATATATATATATATATATATATATATATATATATATGTATATATATATATATATATATATATATATATATATATATTACATTTTTTAAATTAATTAAGCATTTAGTGTTTATACATGCATTTTATTTCAAATTAAAATAATAAAATGTAAACAATTTAAGTCATAATTTGGATAAAATTTTATTAAAATTTTTCCTTTTTTTATTATTATTTTAAAATATTTTTTTTTCCCCATTCAAGGTGTGGTGGATTCAGATTCAAGCTACTTATGTTCTACTTATGTATTTCATCAAATAAATTGTTTTTAAATGTGCGTTTATTTCCGTCTTTTACAGCCGAATACCAGCTTTTGTGTGGTAATCAGGCTCCTGGTTTCATCATCGACATCCACACTGGA[A/T]AACCCATCGGTGAGTCCACTTAATAATGATGATAATAATAATACTTCAAAACACACTCTTTCATCTCTCTGATGGCACGTTCACACCAGACGCGGATGAAGCATCAGGCGCTAATGATTTACATGCTAAATCAATGCAAAAACGCAAATAGACATCCTGCAGGCGATTCGCGTGAATGAGGCAGCGCGAGTTGAGTGTTTTGCACGCTTGATGCTCTTAACGTGCGAATCGCTCAAGTTGGAAAATATGAACTTCAGCGGACATTCACGCTACGTTACCCAATAAGGAGCTTGCTCTTTTAGGGGCGTGATTATGACATAGTGCCTGTTGTTGCTATCCCGAGGGGAAATCCTGCTGCCGACACCGGACAACAACTCATCAAACTGAGCTCGGCTCAGTCTGAAAGCTTCCATCATCCACATACATTTTCTGGAAGAGTTGATGAACTCTGACCTCTGAAAGGATCTAGTGCACTCAGATACTGCACCGAACAAATCAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12625
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008681 Essential Splice Site 927 1862 23 42
Genomic Location (Zv9):
Chromosome 22 (position 4018025)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 4092777
GRCz11 22 4545625
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTCTGTGCTTCCCCGGGTTCGAGCTCACACATAATAATGACTGCATGGG[T/A]AAGACTATATGCTTTCAGGCCTATTWTAAATRATGCATTTACWGAGAART
Long Flanking Sequence:
TATTCAAATCATCTGGTGAATATTTAATCGCAGCAAACCAAAATATTGCAATGTCAGAATTTTCTAATATCGTGCAGCCCTATTACGAGCCCTCCGTGGTCAGCAATTGCATTTGTTATTCGAAAACCTATATAAATTGCTGTTTAAATGTCTTGTCAGATCGTAACGAGTGTCAGGAGATCCCGAACGTCTGCAGTCACGGCGAGTGCATCGACACACAGGGCAGTTTCCGATGTCTGTGCCACAACGGCTTCAAAACTACGCCGGACCAGACCATGTGTATGGGTGAGTGTCCAACGCTACTGGAAGTGCATCTGCTTTTGTGGCTGTTTGAATGTGTAACAAGCTGTGGTAACTAACTAAATGTCTGTGTTTCTGGCAGATATCGATGAATGTGACAGACAGCCGTGTGGAAACGGGACGTGTAAGAACACAGTGGGCTCCTACAACTGTCTGTGCTTCCCCGGGTTCGAGCTCACACATAATAATGACTGCATGGG[T/A]AAGACTATATGCTTTCAGGCCTATTTTAAATAATGCATTTACAGAGAAGTTTCGCAAGTCTGCTAACATCACACTAAAGTTTTCACAAAGAACTTTTCCATTAAAAATAAAAAACAAAATTAACATTAAACAAATTTAACATACGTTTTAAACGTTTTTCATGCGTTTTAATTAGGTTTTAAACCAAAATGTACACACTGCAAATATAGGACTATAAATATTTACCAAAATAAGAAATATTAGTTACATTTATTGTAAATTTAGTAAAGTCTGAATTTATTTTACATTAAAATAATTTAAAAAATACTCAGAGTATATATAGGATTGTAAATATTGAGCAAAATAAGACATTTTACTGTTTGTTTGGTAAAGTCAGAATTTAATTTATATAAAATAATAATAATAAATGTGTAAAATTGGCATGTTATATTTAGTTTTAAATATTTCATAAAATTTATCATATTTTTTATTATTAGAAATGAAATATTTTATAGACTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43757
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
ENSDART00000008681 Essential Splice Site 1485 1862 36 42
Genomic Location (Zv9):
Chromosome 22 (position 4033552)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 4077250
GRCz11 22 4530098
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCCTGTCCCAGAGGATACATCCTACAGCCGGATGGCAAGACCTGCAAAG[G/A]TTAGTTCACAATTTAAGGCTCATGATGCCATTTCATGTTTTCCGTTGACG
Long Flanking Sequence:
TATACACATTGCGATAACGTCAAGTGTGTATTGACAACTTAATGCTTTGCACACCAGATGAGCTCATAATATCAATTTGTTAATATTATAATGAATGCAAAAATAGACGTCGCTCTTTGGCACAGCGGGAATTTGAAAAGGCCAAAATATGCAGGAAATCTGAGACAATTTAAAATTAGAAAGCTGCATAAAATTGCTTCATTTGCTTGACTTTGCGTTAAATTCTGTGATTGCGGAATTGTGAAATCCTAGAGGCACGGCCTTATTAGACACAACAAAAGGTGCACAATTGTTCCAAAAGTGTGTTATTTGATGCATTATTACCCTTGTATTATACTATCTGATATTACAATATAACTCAAACGCTTTCTCTTTAGATATGGACGAATGCTCTCAGTCGCCCAAACCGTGTAACTTCCTGTGCAAGAACACTGAAGGCAGCTACCTGTGCTCCTGTCCCAGAGGATACATCCTACAGCCGGATGGCAAGACCTGCAAAG[G/A]TTAGTTCACAATTTAAGGCTCATGATGCCATTTCATGTTTTCCGTTGACGCGTTATAAGCTGTTTGTGCATGTGTGTGATTCTTGGACAGCGGGTACATTTAAAAAATAATTATAATCATTTTAATGAAAACCGATTTATATAATGATAAAAATCTTTAAATGTGTTTGTGTTTAATTAGGAACATTGTGTCCTGAAAGTATAATGTGCGCGTGTGTATTTAGGGACATTTTGTCTTATTTTCTAAAAATATTTACACCTATTTTTGACTCTCCACCTGCTGAATCATATATTTAGCTACAGTTATTATGAAATAATTAAGTCTAAGTTTCATCTACCAAGTGTACTCTCTACTAAGTTATAATATTGTTAATTAACATTTGTATTGAGGATCTATTTTCATATAAATCATCATTCGTTACGTTTTTGTGCGACCATTTTCTGCATTTCAATTAGCTTATAAGCAATAACGTTTGACGACTTTTAGAAAAAGATCTAAGA
Associated Phenotype:
Not determined