Busch Lab

ZMP

fbn2a

Ensembl ID:
ENSDARG00000051896
ZFIN ID:
ZDB-GENE-090112-4
Description:
Fibrillin 4 [Source:UniProtKB/TrEMBL;Acc:B6D7H2]
Human Orthologues:
FBN1, FBN2, FBN3
Human Descriptions:
fibrillin 1 [Source:HGNC Symbol;Acc:3603]
fibrillin 2 [Source:HGNC Symbol;Acc:3604]
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
Mouse Orthologues:
Fbn1, Fbn2
Mouse Descriptions:
fibrillin 1 Gene [Source:MGI Symbol;Acc:MGI:95489]
fibrillin 2 Gene [Source:MGI Symbol;Acc:MGI:95490]

Alleles

There are 15 alleles of this gene:

Allele Name Consequence Status Availability
sa17112 Nonsense Available for shipment Available now
sa31772 Nonsense Available for shipment Available now
sa21697 Essential Splice Site Available for shipment Available now
sa21696 Essential Splice Site Available for shipment Available now
sa21695 Essential Splice Site Available for shipment Available now
sa14555 Essential Splice Site Available for shipment Available now
sa14044 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17112
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073604 Nonsense 55 1850 3 45
Genomic Location (Zv9):
Chromosome 10 (position 16410386)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 16501543
GRCz11 10 16459662
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTAAACCACTGATTATATTTTTTTCTTCTGTTTTACTCTCTAAAGCCAAA[C/T]AATGCWAWAYAAGGTGTATGAATGGAGGAGTGTGTGAAGATGACTATTGY
Long Flanking Sequence:
CTATGCGATGGAATTTAGAAGTAGTATTGAATTTATTAATAGAAAGTAGCATTGAGTCAACAATTTTAATTACTTTTTAATGTAATTAGAAATTTATTTTAAGTATAATTTTAATAATGCAATAAGTAATAAGCATTTAGAAATGAATGACTTTTTTAAATAACTGACTCTACACAGGTAACACTTGAGCTCTGATAGCACATATACATTGGAGACGTCTGTTTGCGAGACATATTAATTAGAGCATTAAATAGATGTTATATGTTTTTAAGATGTTTAAAATGTACAATATTCATATAAAAGACCTTTTAAAAGCATTTATAAGGTCATTGTACACAGCAGATATTTTACAGACCTTCTTTCTTACAGATATTCTTATGAATACATCTTGCAGATTTAATGGCTCTGTCTTGGACAATATCCTAACCAATTTTAACATGAACCACCACATTAAACCACTGATTATATTTTTTTCTTCTGTTTTACTCTCTAAAGCCAAA[C/T]AATGCAATATAAGGTGTATGAATGGAGGAGTGTGTGAAGATGACTATTGCCAGTGTCCAAAGGGATATACAGGAAGCTTTTGTGGACAACGTAAGTATATGGCTTCTGCTTACATCCTTACTGTAAATTGTGTTGGTGACCTCTGCCTGTGTTTATTCCTCTCATGTTGTCACTTATTGCCCACTAATGCTAAAAAATATAAGTAAATAAAGAAATAAAGAAAAAAATACATCCAGTATCATTTGTCCTACAGTATAACGTCTGCAGATCTCCTGATACATGGCCTACAAGTTTGTAATGCTTCCATTGCTGCTTGTTTTGGGCCTAGATGTGAAATTATGTTAAACTCTTGGTATTCTTCACATGATACCTGCTGTTTTAGTGTTTATTTGTTACTTAGCATCTACAGAGTATTGTGCTTTCGATTGCAATTCCAAGTATTTTTGGAACTCAGCTACCTAGCTAACATGAAAACAACTGTCATATTTCCTAGTCTCTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31772
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073604 Nonsense 713 1850 17 45
Genomic Location (Zv9):
Chromosome 10 (position 16370068)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 16461225
GRCz11 10 16419344
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCTCCGAGGAAATTTCCGCTGCGTCTGTAACATTGGCTATGAAAGTGAC[C/T]AGAGCGGCAGAAACTGTTTAGGTCAGTTGACATTTAATATAATTACTTAC
Long Flanking Sequence:
ATTTTCTGTTGTTTACTGAAAAAAATGCTGGGTTGCACACAATTCCAACATGTTTCAACACAGATTGATTAAGTTACCCTAATATTTTTTATCAATTTAACTGGATTAAACATAAAATAATTAAGGTGTCTCAAGAAAAACATTAGAATTTTGTTGTTTCATCTAATTTAAACAAGTACTTTGACCAAGAAGCTAAAGTTGAGTGTTTGCATGATGTGCAGTTTCTGTTTTTAACTATTTACAAAGTAAGCATGTGAATGATGTATAGCTTTGAATCTATATTGTTCTTAATCTACTAAAACTTTGCTTAAAATATACCATTTGTCACATTAGTGAATATGACGTGTCTTTTTAAGTGATTCTTTTGATAATTTCTTTTATTTATTTGTGAGGCAGACATTAATGAGTGTGCTCTGGATCCGGATATCTGCTCAAATGGAGTGTGTGAGAATCTCCGAGGAAATTTCCGCTGCGTCTGTAACATTGGCTATGAAAGTGAC[C/T]AGAGCGGCAGAAACTGTTTAGGTCAGTTGACATTTAATATAATTACTTACAAGTTACTACCATGAGCTGTCAGGATTGATTTAAGAATTCAAGCCTGTACAAATCAAATTTAGTTGACAAGTGACAATTTTAGTGTGCATCACACAGGCCCTATTTACACCTGTATTAAGATGTGTTTTCATTGAAAGAGGGACATTTTCATTTACACCCAATGGTAAATGTGGGATTTGTCTCATCTTTCGATTGAAATGTAAGAAATAAGCTAAGCCAGTTTGTTGGTCAACGATTTTTATCCATTCATTCATTTTCTTGTCGGCTTAGTCCCTTTTTTAATCCAGGTTCGCCACAGCAGAATGAACTGCCAACTTATTCAGCACATTTTTACTCAGCGGATGCCCTCCTAGCCGCAACCCATCATACACACACTCATTCACTATGGACAATTTAGCCTACCCAATTCACCTTTACCGCATGTCTTTGGAATGTGGTTGAAACTGGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21697
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
ENSDART00000073604 Essential Splice Site 865 1850 21 45
Genomic Location (Zv9):
Chromosome 10 (position 16356846)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 16448003
GRCz11 10 16406122
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTAGTGTGCGAACGAGGATTTGCTCAGTCAAGAGGGGCTTCATGTGAAGG[T/C]GACAGTTTCATAGAAACGACTTTAACATAAACTCTGTTTTCTCTGATTTT
Long Flanking Sequence:
CTGGGTTGTTTTGCATCTTTGCAAGCTTTAAAATTACACACTGGACCACCCCTTTAAAATATTATTTTTGCTCACCAAAGCTGCATTTATTTGATTAATACAATAAAGAAAGTAATGTCATGATTTTATTAATACATTTTCAGCAGTCACAACTTCACTTTTTATTATTACATGATCCTGTAATTTAGTTTAGTTTAATAACTGTACAGCAATAACTGTAATTTAGTTATTGCTGATTTAGTTTGAGTGATTTTTTAGAACTACTTCATATAAGTATTAAAGAAAGTAGTATTAAAGTTTTAAAGTATTAAAGAAAGTATGCTGCTTAGAATTTCTGTCATTAAAAAAAATTCTTGTTAACAAATAATTGCATTGTCTTTGTTTCACATGCCGTATATATTTACATGATTATTTATGTGATTAACTATGTGATTATTTATGTGTCCAGATCTAGTGTGCGAACGAGGATTTGCTCAGTCAAGAGGGGCTTCATGTGAAGG[T/C]GACAGTTTCATAGAAACGACTTTAACATAAACTCTGTTTTCTCTGATTTTGAATTATAAAGCTTACTAAGGTAAAAATGCCCACCTCTCCTCTCTCTCCCTGTGTAGATGTGAATGAATGTGAGGTGTTTCCTGGTGTGTGTCACAATGGACACTGTGTGAACACTAGAGGCTCATTTAAATGTCAGTGCCCAGAAAGCCTCACACTGGATGTCACTGGACGCCTCTGTGTTGGTAAACCACCCTAATTTTGTGTCAAAGTATAATTCAAAGTGTAATTTAGTTGTTTTATTAGATCATAATTGCTTGATTCATATGGATTTAGGTGTCTTTATGAACTTTTGGGGTGACACAGTGGGGCAGTGGGTAGCGCTGTTGCCTCATGGCAAGCAGGTCGCTGGTTCAAGCCCCGGATGGGTCAGTTGACATCTGTGTGGAGTCAGTCACTCAGTCTTTATTCATTTCCCCCAGGGCATTCATTTCCTTTATTCATTTCCCGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21696
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073604 Essential Splice Site 983 1850 23 45
Genomic Location (Zv9):
Chromosome 10 (position 16355304)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 16446461
GRCz11 10 16404580
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCTTCGCCAACAAAGGAGACGTTCTCACTGGCAGAGCTGTCTATAAAGG[T/G]CAAAAAGATTTTGATCTTTGATTTTGAATATTTAGCTTTTACTGTTATAT
Long Flanking Sequence:
TTCCACTGTGGCAACCCCTGATTAATAAAGGGATTAAGCCATAAAGAAAATGAATGAATGAATGTACCTTTGAAGCTTGAACCCAGATTTTAGACTGAATAAACTGAATAAAATAGGATAAGACAATGTTAAAAACAACTTAATTTCAGTCGTTTATCTGTGTAATGTATTACAAAAAATAGAAAAAAAGTCTTTTGGATATTATTAAAATAAAGTATTAAAAACATCTGTGCAAAATGATGGGAGTAAATTATTTGTTTTGTCCAAACAGATGTTCGTTCGGAGCCGTGCTTTCTTACTTACGAAGAAGATGTGTGTACACAGCCGGTACCAGGACGCTTCCGCATGGACATGTGTTGCTGTACGGTGGGTTTGGCTTGGGGCAAAGATTGTGACTTATGTCCTGAGCCTGGTACTCGGCAGTTTGACACCCTGTGCCCAAGAGGACCAGGCTTCGCCAACAAAGGAGACGTTCTCACTGGCAGAGCTGTCTATAAAGG[T/G]CAAAAAGATTTTGATCTTTGATTTTGAATATTTAGCTTTTACTGTTATATTATACTGTTATTCTGTTATAAAATTTATTTATAAAGTAAGTTTATAAATGGAGCTATTCCCTCTTCATCAGATATCAATGAGTGCAAAGTTTTCCAAAGCATTTGTGTCCATGGGAAATGTCGGAACACCATTGGGAGCTTCAGATGTCGCTGTGATAGTGGATTTGCACTGGATACCAATGAGAAAAACTGCACAGGTAAAACAAATCATTTTCATTACACCATGCATTTACAGTATGATGATAGTAATAAATTGTATTCTATAGACTGGGTTGTCACGATACCATTAATTCATGTAAGGATACTATATCAGCTAAAGTATTGTGATATCATGTAGTATTGCAATACTGCATTAATCAAATCCATGAAGAAAAAAAATGGCAGAAATATTATATTTTATTTGTTATAATATGCTCTCTTGAATTGAATTAATGATTCCCTTTTTATTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21695
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
ENSDART00000073604 Essential Splice Site 1024 1850 24 45
ENSDART00000073604 Essential Splice Site 1024 1850 24 45
Genomic Location (Zv9):
Chromosome 10 (position 16355056)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 16446213
GRCz11 10 16404332
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGCTGTGATAGTGGATTTGCACTGGATACCAATGAGAAAAACTGCACAG[G/A]TAAAACAAATCATTTTCATTACACCATGCATTTACAGTATGATGATAGTA
Long Flanking Sequence:
AATTATTTGTTTTGTCCAAACAGATGTTCGTTCGGAGCCGTGCTTTCTTACTTACGAAGAAGATGTGTGTACACAGCCGGTACCAGGACGCTTCCGCATGGACATGTGTTGCTGTACGGTGGGTTTGGCTTGGGGCAAAGATTGTGACTTATGTCCTGAGCCTGGTACTCGGCAGTTTGACACCCTGTGCCCAAGAGGACCAGGCTTCGCCAACAAAGGAGACGTTCTCACTGGCAGAGCTGTCTATAAAGGTCAAAAAGATTTTGATCTTTGATTTTGAATATTTAGCTTTTACTGTTATATTATACTGTTATTCTGTTATAAAATTTATTTATAAAGTAAGTTTATAAATGGAGCTATTCCCTCTTCATCAGATATCAATGAGTGCAAAGTTTTCCAAAGCATTTGTGTCCATGGGAAATGTCGGAACACCATTGGGAGCTTCAGATGTCGCTGTGATAGTGGATTTGCACTGGATACCAATGAGAAAAACTGCACAG[G/A]TAAAACAAATCATTTTCATTACACCATGCATTTACAGTATGATGATAGTAATAAATTGTATTCTATAGACTGGGTTGTCACGATACCATTAATTCATGTAAGGATACTATATCAGCTAAAGTATTGTGATATCATGTAGTATTGCAATACTGCATTAATCAAATCCATGAAGAAAAAAAATGGCAGAAATATTATATTTTATTTGTTATAATATGCTCTCTTGAATTGAATTAATGATTCCCTTTTTATTGAAAAAAGTATTTGCATGTCTCTTCACCTAAAATGTATTCGTACCAGCAAAAATATGATTAAAATAAAGATACAAATTATACCAAATGAAATTCGTTACCCAATAAACTTAGGGTATATGAAGTGGTCAATGTTTCCTGTTGCTATTTGGGTTTTTCATCTATTATTATTATATTTTTTTATCTTATCAGGTAAGAATCCAGAGTATTTCACTCTGTGAGTTGTTCTTTTTAAGAGATTGTCACGGTTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14555
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073604 Essential Splice Site 1110 1850 26 45
Genomic Location (Zv9):
Chromosome 10 (position 16350456)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 16441613
GRCz11 10 16399732
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGTGTCCGCCTGGTCATCATCTGTCTGTGGATGGCAGTGCCTGTGAAGG[T/G]GAACTAAATCATGTCMTTTGTGTGGGCTATATCTCACTCTTGTTTGTCAA
Long Flanking Sequence:
GATCTCTCCTGATGTCTGTGGTCATGGCACATGTGTGAACACTTTGGGCAGTTTCCAATGTGACTGTTTTCCTGGCTACGAAAGTGGAATCATGATGATGAAGAACTGCATGGGTGAGTGACACTTTACTATTTATGGTGTGCTTCAGTCAATCAAATAATAAATTATTCGGGACATGGCATTGGTGGCTCAGTGGTTAAATCTCTTGACATTTTCACTTTCCTTTATGTACTTGCGTTTTACTTACTGCATTAAATTCAATATAGTAAAACCTTAAATGTGCCTTTTTAATTACATGTTTCTTGTAGTAACTCATGTACATATTTGCAAAACCATTATTTTCCACACTAATCCTGACCATGTTATGCTGTAGATATTGATGAATGTGAGCGTAACCTTTCACTGTGCAATGGAGGCACCTGTGAAAACACTGACGGCAGCTACAAGTGTGTGTGTCCGCCTGGTCATCATCTGTCTGTGGATGGCAGTGCCTGTGAAGG[T/G]GAACTAAATCATGTCATTTGTGTGGGCTATATCTCACTCTTGTTTGTCAAAATAAGCGCATTGTGCCAAATGAATCATTTCAATGTAAGTACATATTAGTTAAGGACACTTAATGTAAAGTGGAACTGTTTTAACCCAAAATAGATTTTGACCTAATTCTTGTCATTGATCTGACGGATATTACTGTTTGTCTGCAGACGTGAACGAGTGTGATCTGAGTAGCACACTTTGTCCTAATGGCTGGTGTGTGAATTTGGTGGGAACCTACCAGTGCTCTTGTAACTCTGGCTACCAGACGACACCTGATTGGAAGGGTTGCACAGGTCAGAACTGTAGATCGACTAGTCAAAAGTTTAAGGTGTTTTTGAGAATTAATTGTGAATTATTTTATTCTTTCATTCATTTTTTGCCTTTATTTCTATACACTACCTGACAAAAGTCTTGTCGCCTATCCAAGTTTTAGGACCAACAAATAATAAGGCCTCTAGATTACATTTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14044
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073604 Nonsense 1617 1850 39 45
Genomic Location (Zv9):
Chromosome 10 (position 16306972)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 16398230
GRCz11 10 16356349
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATYGATGAGTGTGTGCTCAGTTTGGGGGTTTGTGGTCCAGGCACCTGCTA[C/A]AACACACTGGGAAACTACACTTGTGTCTGTCCACARGAWTACATTCAGGT
Long Flanking Sequence:
ATATTTTCTGTCAAACCAAGTATGTCTACACTTGATGTTTAGGAATTTGTACTGCACAGGATGTTAGTACCATCAATCCACTTTAAATGTTTTTTTTTTAATTAACTAAGGGTGTTTGTATGAGATTATTATGTTAAAACGAGCATTTTAATATGATTAGGCTACACAAATATGATACAAAATGTAAAACATAAAGGAATTAAGTTGACTTACCAGTTTTTACAAATTTAAGTGCATTGAACATTAACATTAAGTTGCCTCCCTGAAAATATCAAGATGTTTGTTGTTTCAGCTCATTTTAATTAAGTAGTTTGAACAAACAGCAAAATATTGAGTCCATATTAACTCTATATTAGCTTATTTTATTTTTGGATTTTGTGACACCATTGAAGTATATGGAAATGTAGAAAATTTGATTTCTTTTCTTCCTGTAATATATCTCTTTCAGATATCGATGAGTGTGTGCTCAGTTTGGGGGTTTGTGGTCCAGGCACCTGCTA[C/A]AACACACTGGGAAACTACACTTGTGTCTGTCCACAAGATTACATTCAGGTGAATGGAGGACACAGATGCATGGGTGAGTGTGTCTTCACAGAGGAACAATAGAATCACTTTATTATCAATTACTGACTTTTATTTACATTTTAAATATCTGTGCGGTTTAGTGACTACATTTTAAATGTCTGTGTGGTTTAATGACTAAATATAGATTCTTATTTACAGTGACCGTATATATGTTTTTTTTTTTTAAATGCATCTAAGTTTGTTGGATTGGTGTTGTTTTAGATATGAGGAAAAGTTTGTGCTATCGCAGCTACAATGGCAGTGCCTGTGAACATCAGCTCAACTTTAACATCACACACAGATTGTGCTGCTGTTCCTACAATGTGGGAAAAGCCTGGAACAAGCCATGCCATGCCTGCCCGATACCTGGAACTGGTAACCACACACATTTACTTACTCTAACTGTAATGAGGTAGAATTTCATCTGATGGTTTGCACAA
Associated Phenotype:
Not determined