Busch Lab

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:

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:

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