ZMP

pea3

Ensembl ID:

ENSDARG00000018303

ZFIN ID:

ZDB-GENE-990415-71

Description:

ETS translocation variant 4 [Source:UniProtKB/Swiss-Prot;Acc:Q9PUQ1]

Human Orthologue:

ETV4

Human Description:

ets variant 4 [Source:HGNC Symbol;Acc:3493]

Mouse Orthologue:

Etv4

Mouse Description:

ets variant gene 4 (E1A enhancer binding protein, E1AF) Gene [Source:MGI Symbol;Acc:MGI:99423]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
hu3536	Nonsense	Confirmed mutation in F2 line	Not yet available
sa45463	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

hu3536

Status:

Confirmed mutation in F2 line
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000013033	Nonsense	169	494	6	12
ENSDART00000136212	Nonsense	120	263	4	6

The following transcripts of ENSDARG00000018303 do not overlap with this mutation:

ENSDART00000133719

Genomic Location (Zv9):

Chromosome 12 (position 29129713)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	27467322
GRCz11	12	27558682

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCCTATGCAGCATTATTCCCCCAAACCAACAGTGGGAACTCGGCAGGAAT[C/A]AGGGTATATGAATCCACCCTCAGCCAGCCAATCCCACGCCTGCCACAGCC

Long Flanking Sequence:

CAGATTTTGTGGTGTTATGATGCACACATTTTGGCACGCAATTCATTTAAAGTCTAAAATCATTTTCATTTGTTAAACAAAAATATGTTGGGCACAAGGATGCTCACTTCCCATTAGATTTTAGGTCAATTTTAATTAAGCATGTTCCTATTTTAAGAAAGTAAGTCTGGAACAAGTGTAAAAATAGTCAAATCTATTCATATGCTTTCCGGTTTTTAACCTTCATATGAACAGATAAAAATACAAATAATTTAACTGTTATTAAACAATCTTGCCCTGATATGCAGTGTTTGCAGTCCAAAAAGCATCCACACATGCTCTACAACTGTAAAATAAAACATATTGTTGACTTGAAAGTGTTTGTGTGCCCTGCAGTGCCTATGAGCAGAAGAGAGCAGCCGTGGCAGGAGCAGGAGGATCTAAGAGCTCATGTCCAGGGACGCCCATGTCCCCTATGCAGCATTATTCCCCCAAACCAACAGTGGGAACTCGGCAGGAAT[C/A]AGGGTATATGAATCCACCCTCAGCCAGCCAATCCCACGCCTGCCACAGCCACAGTTACCCCATGAACCCCAGGTAACAATAAAAATAAAGAATGTGTAGTTGTGTGTAGTTTTGACTTGGAAAGCATGTGTAATTCGACCAAAACTATCGTTTTAACAAGACATTACTCTTAGCTAAAACAAAAATTTTTGGACAAAAAGCTAATTAAATACAACATATTCTGGACAAAAATGATTCACAGCTTAAAGAGGTGGTCCACTTCCACATCATATTTTAAACTTTAGTTGATGTGTAATGTAGCTATGTGAACATAAACAACATCTCTGAATCTAAGACGCATAAAGTTCAATGCAAAGGAAGGCTTTTACAGAGTTAGCTTAGCAATACAGCAACCGAAGTTTGGGGACTACAAAAAAATACATCCGGGTTAATGATGTCATAAACCCTTCAGGTTATGCACATACACCCAGCTCAATGAAGGGGCATAGCCAGAGGCACTG

Associated Phenotype:

Normal

Stage	Entity	Quality	Tag
Larval:Day 5 ZFS:0000037	whole organism ZFA:0001094	quality PATO:0000001	normal PATO:0000461

Mutation Details

Allele Name:

sa45463

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000013033	Essential Splice Site	311	494	8	12
ENSDART00000136212	None	263	263	6	6

The following transcripts of ENSDARG00000018303 do not overlap with this mutation:

ENSDART00000133719

Genomic Location (Zv9):

Chromosome 12 (position 29134525)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	27472134
GRCz11	12	27563494

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CATGTACCATCACAACGAAGGCTACTCCAACCCACAGCACAACAGTGAAG[G/T]TAAGAGCACCATTTGTCCATCTACAACATGCAGCTCCAGTGCAGTTCTAG

Long Flanking Sequence:

TTTTATAGTTGCGTAAAATAATAAATTAGACCAAGCAATTTTTTTTTTCTTTTTTAACATCAAAGTGCTTTAAGCTTGCGTCAAATTTCTGAAATGGCAGTTCTTTTTCCTGGATTGAGCGAAATACAATTATTTCTAAAGAAAAAGCATCTGCTCTCATTTGCCACATTAGATTTATTTTTCACTTTCTATAATGCATTCTGAAATTATACTCTCTATGAAGAATATATTAAATGCTGGCTTCCTAGGAGGGATCATAATTATAAAACTACATTTAGATATTTAACCAGGCCTTAAAATGCTGCTGATGTAGAAAGCTCACTAGCTTTTGTAAAAGAAGAGTTTTCACCGATAAGAAACATAAATATAGATTGCCAGATTACTAGCATGTGTTCATCACAGACGGTCATGTTTTTATGTTTGTCCAGCAGATGTGCCTGGCTGCCCATCCATGTACCATCACAACGAAGGCTACTCCAACCCACAGCACAACAGTGAAG[G/T]TAAGAGCACCATTTGTCCATCTACAACATGCAGCTCCAGTGCAGTTCTAGATTGTACATTTCACACACTCAAAGCACGTCAGGATTGGCCAGGACTGTGCGGTCACTGGCTAACCAGGCCAGAGGGTCTATGTTTCTGTTGGCATGGACATTTGTTTCTCTCTTGCCTAAAGAATTCCAGGGTAAATATTACTACTGGAAAAGACGAGTATTTTTCCTGGAGTGAAGAAAAATAATCCTTCTCTCCGCTCGCTGCATTTGCCGCACCATTTTGGGTATTTTCAGTTGTTAGCCGATCTCTGTAATGAGCCATTAGATACAGAAAATTGAGTTCCTTGCTTCATAAGGGTACATAACTGAATAATAATTATCATCAAGAGTCTACATTTCCCATAATAAGAATTTATAAATATTAAGGGAAAAACAGTTTCTGTATTCATAAATCTCAATTTGAAAAGTCAAACAGGAAAATGCTTGCTGTTATTAATTACTGCTGTTAAT

Associated Phenotype:

Not determined