Busch Lab

ZMP

esr1

Ensembl ID:
ENSDARG00000004111
ZFIN ID:
ZDB-GENE-020806-5
Description:
Estrogen receptor [Source:UniProtKB/Swiss-Prot;Acc:P57717]
Human Orthologue:
ESR1
Human Description:
estrogen receptor 1 [Source:HGNC Symbol;Acc:3467]
Mouse Orthologue:
Esr1
Mouse Description:
estrogen receptor 1 (alpha) Gene [Source:MGI Symbol;Acc:MGI:1352467]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa29373 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa29373
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
ENSDART00000024518 Nonsense 5 620 1 9
ENSDART00000087844 None None 569 None 9
Genomic Location (Zv9):
Chromosome 20 (position 26411960)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 26483263
GRCz11 20 26382353
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTCTTTTGCTTATGAACAGATAGTACCCTAAGTCATGCTTCCTGCGTG[T/A]GTGTTTCCATGGTGATGTCTGGAGGGCAGACCAGCGGAGAGGCTGTTGGT
Long Flanking Sequence:
AATTTTTTTTACTTGTCTAGAAAATGCTTCCTGAATGCTCTTCCTTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAGCTTCAAGAAGTCAGAAATGTATTTCTTTGCAGTGTAAATGTAATGCATAAGACATTTGGGGAAAGAAGAACAATGAGGGGGAAAAGATGGGATAAAAGAAAGGCAAAAGAATCAAAATGAAAATGTGTTTAAAGAGGGAAAGACAGGAAGAAAGAGAAAGAAAAGCAGCCTCACGTATCTTAGAAAAACATCATACTTTGTCCTCTCAGCCCAAGGAGGACTGTAGGAGAGGAAGGTAGTTTTTTTTTAGGAGGAGTAGGCAGAGCAGCGAGAGAGTGAAGCGGAAGCGAAGCAGAACAAGGGGGAGAGAGTTTGAGAAAGACTGTGGGAGGTGGAAAAAAAGAAGCCTGAGCTTAAAAAAGACAGAAACAGTCTTTTGCTTATGAACAGATAGTACCCTAAGTCATGCTTCCTGCGTG[T/A]GTGTTTCCATGGTGATGTCTGGAGGGCAGACCAGCGGAGAGGCTGTTGGTGCCAGGCAGCGACGCAGGACCAGCCCGAGTCCTGAGAGAGAAGCCCTGGAGGAACCTTCCTCGCCACCTGCCGCCCACAAACTCTCACCCATGTACCCTAAGGAGGAGCACAGCGCGGGGGGCATCAGCTCCTCTGTCAACTACCTAGATGGAGCTTATGAGTACCCGAACCCCACACAGACCTTCGGCACCTCGTCGCCTGCAGAGCCTGCTTCAGTGGGATACTACCCGGCTCCCCCAGACCCCCACGAGGAACATCTACAGACGCTTGGCGGTGGATCAAGCAGCCCCCTCATGTTCGCACCCTCCAGCCCACAGCTGTCCCCGTATCTGAGCCATCACGGAGGACACCACACCACCCCTCATCAGGTGTCCTACTACCTGGATTCCTCGTCCAGCACCGTCTACAGGTCAGTGCAGCAGCAAATTTCAGCTCAGGCTTTAATTAAG
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa29372
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024518 Essential Splice Site 537 620 8 9
ENSDART00000087844 Essential Splice Site 486 569 8 9
Genomic Location (Zv9):
Chromosome 20 (position 26391956)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 26463259
GRCz11 20 26362349
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTCGCCAGGCCCAGCTCCTGCTGCTGCTCTCACACATCAGACACATGAG[G/T]TACATTGAGAGTCACACACACATAACTAAATTTACACTACTAACATCAGA
Long Flanking Sequence:
AAAGAAAAAATATTATGAGACATACTGTGAAAATTTCCCAGCTCTGTTAAACATCATTTGAGAAAAATTTAAAAAGGAAAAATAAATCAACGTGGGGCTAATAATTCTAACTTTAATTGTACATATAAAATCTTTTTCAGAATCGGTGATAAATATTATTGTTAAAGCTTCACTTTTTGTGTTTTTTTTTCTCTTTGGTGATTTATCAGTCCATCAAGTGTCAGTCTCACGCACTACATAACAATTGTGCCAAAATGTGAACAAAATCAAAGGTTAATGTGTAGTGTTGTAATGGCTACCTTTTCTGTCTGGTCAGGTGCATTTTCATTCTGCTCCAGTCCAGTGGAGCCGCTGATGGACAACTTCATGGTGCAGTGCATGCTGGACAACATCACTGATGCCCTCATTTACTGCATCAGTAAATCAGGAGCGTCGCTGCAGCTGCAGTCCCGTCGCCAGGCCCAGCTCCTGCTGCTGCTCTCACACATCAGACACATGAG[G/T]TACATTGAGAGTCACACACACATAACTAAATTTACACTACTAACATCAGAAACCAGATAAAGGACCATTGAAAAATGTTCAGTAACATTTCAGATGTTTTCTTTCTTCTAATAAATACTGTATTCGACCATCATAATACAAATAATATAATATTAATAAGACAACAAAATGCACCAAATCAGCATACTGGAATTTATGATAGATCAATCGACACAGAACTAACCTAATTAACAAAAAAAAACATAATTTTTAGACAATAGAATATAAAATATTTGTTTTGTATTGCTTATATCCAAAGCAAGAGCAATGTTACTGAGAACAATAGAAATAATCAAACAAAATACCCCAGGGCTTTGAATAATTTTATACTTGACTGTATATAAATATATACAGAAATGTTATATAGTAAAAAGAGAATAGATAAAAGTGTTGGTATTACAATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAAATTAAAAGGTAGAA
Associated Phenotype:
Not determined