ZMP

fbn2a

Ensembl ID:

ENSDARG00000079729

ZFIN ID:

ZDB-GENE-090112-4

Description:

Fibrillin 4 [Source:UniProtKB/TrEMBL;Acc:B6D7H3]

Human Orthologue:

FBN3

Human Description:

fibrillin 3 [Source:HGNC Symbol;Acc:18794]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa41616	Nonsense	Mutation detected in F1 DNA	Not yet available
sa34874	Nonsense	Mutation detected in F1 DNA	Not yet available
sa41617	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa41616

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
ENSDART00000130144	Nonsense	55	717	3	17

Genomic Location (Zv9):

Chromosome 10 (position 16818829)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	16315524
GRCz11	10	16339921

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGTGTTTCAGATGTAAACGAGTGTTCGGAGGAGCCTGGGATCTGCACATA[T/A]GGGACCTGCTTCAACAGTCTGGGCAGCTTTGAGTGTGTGTGTAAACCAGG

Long Flanking Sequence:

TGAATTTATTTTAAAAGAATACATCTTCATGCCATTTAGATTTTGTATGAATTTGAATAAGTTTGAGCTACAAATTGAAAAAACACTGTAAAATAAGGTAAGAAAAAGCATAAAAAAACTTATTTGAGAACAGGTCAAGATTCACTTTAAAACTTGGCATCCTTTCTATCTTTAAAATAGCTTGTTTTCTGGTTGACCAGCAAAACTGATCTGAATGATTCTTCCATCATCACCTTTTTTGGTTTTGATTTGAGGGGACAGAAATGTCTGTGAATTTAATATACAGTGAATTGAAATCTGTTCTTGAATACTTGAAAATACAATATGCTGAATATAGTGCACAATTCATATGCATTGTGACTCTTCGTTATCTTTTTGTGCAGTTTAGAAGAACATAAAAGTATGATTACAGGAGCTTATTGAAATGAAGTATGGGTATGTACACATATGTGTGTTTCAGATGTAAACGAGTGTTCGGAGGAGCCTGGGATCTGCACATA[T/A]GGGACCTGCTTCAACAGTCTGGGCAGCTTTGAGTGTGTGTGTAAACCAGGATTTGTGCTGTCAGAAGATAAGCGCAGATGTTATGGTAATTCATCACATTCATCCCACACTCTTACTACATTTAAACGGGAAAATATGTCTGGGACCTAAAATTAGTAGTAATAAAGGGAACACTTTACTTGAAGTGGGTGTTCGTAAGATATTTTACGACACATGATACTTTCATCATGCTTTTGACAATTGTCATGAAGTGTGATTTGCTCAGTTATGTGGCATTGTTTGAGATGTCTTTGTTATGAAAATTCAACATAACTTGACATTATTAAGACAACAAAACTTATCACCAATCTATCCTAAACATGATTGTCATGAGGCAATTGTAATTATAAAATATATCCTATTATATAGGATAGTTGGCCTATTATATTATATTATATATATATATATAATAAAAAATTTACACAACACGATTTTAATGGCTTTGTGACAATGATGTTTAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa34874

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000130144	Nonsense	262	717	8	17

Genomic Location (Zv9):

Chromosome 10 (position 16828435)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	16325130
GRCz11	10	16330315

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGAATCCTCTGCTCTGTGCATTTCGCTGCATCAACACTTTCGGGAGTTAT[G/T]AATGCAGCTGTCCATCTGGTTACACACTGAGAGAGGATGGACGCATGTGT

Long Flanking Sequence:

TACGTGTACCCTGACCTGACGTGGAATAGAAAACATTGATTTTGTCACACAAATATGTTCTTGCAAAACTGCATTATCACGGAAGTCACATGGAATGTTTTGAGAATATATTTGTTTCCTAATTTCATCTAAATATCTTAATTTGTGTTCTAAAGATGAACAAATGTCTCAGGGGATTGAAACAACATTAGAGTACTTGCTAACAAAATGTTTATATTTGGGTGAACTAACCCTTTCAGTATCAATATTTTCTGTTGAAAGCCTCTATGAAATAAATATAATTTAAATGTAGCAAACAAATAAACGATTCAAAGTAAGTCAATTTATAATTATTGCACATGATAGCTGATTTTTATCTGTCATTTATCTGTCTGATTTAGCACCATTCCAACTCTATCTTTGACTGACTGTGTATTATTTTTGATCGTCCAGATGTGAACGAATGTGGTCAGAATCCTCTGCTCTGTGCATTTCGCTGCATCAACACTTTCGGGAGTTAT[G/T]AATGCAGCTGTCCATCTGGTTACACACTGAGAGAGGATGGACGCATGTGTCAAGGTATGAAATATCATTAATAATCAATGATTTTAACAATATAACTTTTCTAAACTTACACAGATCACAGTATAGGTAAATGTAGGTTTTAATAGAATTGTTGTCCACAGGGCTCTTTAAGGTTTTAAATTGCAGAAACAAAAAAAGTTTAAGGCCTTTAAAAGTCTTAAATGCACTTAGATATTGTGTTGTAGGTCTTAAATCAAGACTTAATTTTCCTATCTCTGGGTAAAGCTACCAAATTGAGCCAACACCCCTCCAGTTGCCAACAATCCATCTCAGTAGATTTTTTAACAAAAGTTACAATTTTAACCAATATAGTTCATCTTCCTCGCAATGACATTAGAATAAAATAATGTATTTATAGCTACCTGGTGGGGACACTGACCTGGACAAACTGTTGTACATCCATTTAGTTTATTATAGTTTTTTTAAAGATTTTTTTAAAG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41617

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
ENSDART00000130144	Essential Splice Site	279	717	8	17

Genomic Location (Zv9):

Chromosome 10 (position 16828490)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	16325185
GRCz11	10	16330260

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAGCTGTCCATCTGGTTACACACTGAGAGAGGATGGACGCATGTGTCAAG[G/A]TATGAAATATCATTAATAATCAATGATTTTAACAATATAACTTTTCTAAA

Long Flanking Sequence:

TGTTCTTGCAAAACTGCATTATCACGGAAGTCACATGGAATGTTTTGAGAATATATTTGTTTCCTAATTTCATCTAAATATCTTAATTTGTGTTCTAAAGATGAACAAATGTCTCAGGGGATTGAAACAACATTAGAGTACTTGCTAACAAAATGTTTATATTTGGGTGAACTAACCCTTTCAGTATCAATATTTTCTGTTGAAAGCCTCTATGAAATAAATATAATTTAAATGTAGCAAACAAATAAACGATTCAAAGTAAGTCAATTTATAATTATTGCACATGATAGCTGATTTTTATCTGTCATTTATCTGTCTGATTTAGCACCATTCCAACTCTATCTTTGACTGACTGTGTATTATTTTTGATCGTCCAGATGTGAACGAATGTGGTCAGAATCCTCTGCTCTGTGCATTTCGCTGCATCAACACTTTCGGGAGTTATGAATGCAGCTGTCCATCTGGTTACACACTGAGAGAGGATGGACGCATGTGTCAAG[G/A]TATGAAATATCATTAATAATCAATGATTTTAACAATATAACTTTTCTAAACTTACACAGATCACAGTATAGGTAAATGTAGGTTTTAATAGAATTGTTGTCCACAGGGCTCTTTAAGGTTTTAAATTGCAGAAACAAAAAAAGTTTAAGGCCTTTAAAAGTCTTAAATGCACTTAGATATTGTGTTGTAGGTCTTAAATCAAGACTTAATTTTCCTATCTCTGGGTAAAGCTACCAAATTGAGCCAACACCCCTCCAGTTGCCAACAATCCATCTCAGTAGATTTTTTAACAAAAGTTACAATTTTAACCAATATAGTTCATCTTCCTCGCAATGACATTAGAATAAAATAATGTATTTATAGCTACCTGGTGGGGACACTGACCTGGACAAACTGTTGTACATCCATTTAGTTTATTATAGTTTTTTTAAAGATTTTTTTAAAGAAACATTATGTATAGGCAGGCCCGGATTAAGAATTCAAAGGCCCCTGGGTACAAT

Associated Phenotype:

Not determined