ZMP

epas1b

Ensembl ID:

ENSDARG00000057671

ZFIN ID:

ZDB-GENE-060607-11

Description:

endothelial PAS domain-containing protein 1 [Source:RefSeq peptide;Acc:NP_001034895]

Human Orthologue:

EPAS1

Human Description:

endothelial PAS domain protein 1 [Source:HGNC Symbol;Acc:3374]

Mouse Orthologue:

Epas1

Mouse Description:

endothelial PAS domain protein 1 Gene [Source:MGI Symbol;Acc:MGI:109169]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa814	Nonsense	Available for shipment	Available now
sa35421	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa814

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
ENSDART00000080382	Nonsense	654	834	12	16
ENSDART00000123836	Nonsense	653	833	13	17

Genomic Location (Zv9):

Chromosome 13 (position 7749270)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	8053790
GRCz11	13	8385813

KASP Assay ID:

554-0718.1 (used for ordering genotyping assays)

KASP Sequence:

TACCCAGCAAGGCTGGAATGATGGATCCTTTAGCTGCAAAGCGCTCTTGC[C/T]AAGGCATGCCAGCAAATCGAATGGCACCTTTTATGCAAAGGTAAGTGTGC

Long Flanking Sequence:

CTTTCAGTGTTGATATGTAATGCAAATGACTGGTGTTTCATGCCTGCTTTTTCTGACCCCCCTCCATCACCTTTCAGACTGACTTGAGTGATCTGGACTTGGAGACACTGGCTCCCTATATCCCCATGGATGGTGAGGATTTCCAGCTCAATCCCATCTGTCCGGAAGAGCCGCCATCTGAGATTGGAACCCTGGGAACCAACCAGCAGTGCTTCAGCAACATCACAAGCCTCTTCCAACCCTTGAGTTCACCTTCAGCAGCTCATTACCAGCCCAAAATGAGTTCAGGAGGGGACAAGCAGAACATCAATGGAGGCTCTGTGGAGTCATGGCCACCTGTTCCTTACAGCAGGGATCCCATGCAGATGCCTCCATACCATGATCCCGCCAGCACACCGCTGTCCTCAATGGGAGGGCGTCAGAATCTCCAATGGCCGCCCGACCCTCCTTTACCCAGCAAGGCTGGAATGATGGATCCTTTAGCTGCAAAGCGCTCTTGC[C/T]AAGGCATGCCAGCAAATCGAATGGCACCTTTTATGCAAAGGTAAGTGTGCATGTTACTTGGTGTTAGTTTTGGTTCATTGTTCAGTTTAAAAATGCTGCTGTCTTTGAATTTGCGTTGAATGACAACGTATTTGTTTCACAGGCCTATGGAGAACTTTGTGCAGAACTACAGAGATACAAGTCCAGCTCGACTTGCTCTTGCTAACAGTTTCAAACGCTCATTCTCACAGATGGCCATGGTTTGTTCTTATTTCATTTTAATAATGTTTCATAATCTTACTTTCTTGCTCTATTTTGTTTAAATGCAGCCTTAGAGAACATAAGAGACCTGTGGAAAAAAAGCTATACGAGTTTGAAAGCTATGCTTATCAGAACATATCTGTTTAACCGTTTTACAAAGAAAATCAGTTAAATTTAAGTTGGTCAATTGCCAAAGAGTCATCCCAGTAATGTAATTGTATTTATAGAAGAAGCTGTATTAATATTATTAATTGCATCTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa35421

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
ENSDART00000080382	Essential Splice Site	667	834	12	16
ENSDART00000123836	Essential Splice Site	666	833	13	17

Genomic Location (Zv9):

Chromosome 13 (position 7749229)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	8053749
GRCz11	13	8385772

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CGCTCTTGCCAAGGCATGCCAGCAAATCGAATGGCACCTTTTATGCAAAG[G/A]TAAGTGTGCATGTTACTTGGTGTTAGTTTTGGTTCATTGTTCAGTTTAAA

Long Flanking Sequence:

GCCTGCTTTTTCTGACCCCCCTCCATCACCTTTCAGACTGACTTGAGTGATCTGGACTTGGAGACACTGGCTCCCTATATCCCCATGGATGGTGAGGATTTCCAGCTCAATCCCATCTGTCCGGAAGAGCCGCCATCTGAGATTGGAACCCTGGGAACCAACCAGCAGTGCTTCAGCAACATCACAAGCCTCTTCCAACCCTTGAGTTCACCTTCAGCAGCTCATTACCAGCCCAAAATGAGTTCAGGAGGGGACAAGCAGAACATCAATGGAGGCTCTGTGGAGTCATGGCCACCTGTTCCTTACAGCAGGGATCCCATGCAGATGCCTCCATACCATGATCCCGCCAGCACACCGCTGTCCTCAATGGGAGGGCGTCAGAATCTCCAATGGCCGCCCGACCCTCCTTTACCCAGCAAGGCTGGAATGATGGATCCTTTAGCTGCAAAGCGCTCTTGCCAAGGCATGCCAGCAAATCGAATGGCACCTTTTATGCAAAG[G/A]TAAGTGTGCATGTTACTTGGTGTTAGTTTTGGTTCATTGTTCAGTTTAAAAATGCTGCTGTCTTTGAATTTGCGTTGAATGACAACGTATTTGTTTCACAGGCCTATGGAGAACTTTGTGCAGAACTACAGAGATACAAGTCCAGCTCGACTTGCTCTTGCTAACAGTTTCAAACGCTCATTCTCACAGATGGCCATGGTTTGTTCTTATTTCATTTTAATAATGTTTCATAATCTTACTTTCTTGCTCTATTTTGTTTAAATGCAGCCTTAGAGAACATAAGAGACCTGTGGAAAAAAAGCTATACGAGTTTGAAAGCTATGCTTATCAGAACATATCTGTTTAACCGTTTTACAAAGAAAATCAGTTAAATTTAAGTTGGTCAATTGCCAAAGAGTCATCCCAGTAATGTAATTGTATTTATAGAAGAAGCTGTATTAATATTATTAATTGCATCTTTGCATTATTATTTATTCAAGCACAGTAAAATATGCTAAGAC

Associated Phenotype:

Not determined