ewsr1a

Ensembl ID:
ENSDARG00000020258
ZFIN ID:
ZDB-GENE-030131-2317
Description:
Ewing sarcoma breakpoint region 1a [Source:RefSeq peptide;Acc:NP_001108610]
Human Orthologue:
EWSR1
Human Description:
Ewing sarcoma breakpoint region 1 [Source:HGNC Symbol;Acc:3508]
Mouse Orthologue:
Ewsr1
Mouse Description:
Ewing sarcoma breakpoint region 1 Gene [Source:MGI Symbol;Acc:MGI:99960]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa44719 Essential Splice Site Mutation detected in F1 DNA During 2018
sa15021 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa44719
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024282 Essential Splice Site 504 626 None 16
ENSDART00000141445   None 325 None 10

The following transcripts of ENSDARG00000020258 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 7005166)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 8017966
GRCz11 10 7976666
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACAATTAATTGCCCAGAGCCTGTTCAATGAGGATTTACTTCTTTTTTTTT[A/G]GTGGATGTGGAAACCAAAACTTTGCCTGGAGAATGGAGTGTAATCAGTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15021
Current 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
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024282 Nonsense 600 626 15 16
ENSDART00000141445   None 325 None 10

The following transcripts of ENSDARG00000020258 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 10 (position 7004794)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 8017594
GRCz11 10 7976294
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GRGGCTTTGGAGGAAGGGGTCGTGGAGGSCCTCCAATGGATGACATGGGC[C/T]GAAGGGGSCGAGGAATGGGACCACCGGGSAAAATGGATATGAAGTGAGTA
Associated Phenotype:
Not determined

OMIM

More OMIM information for EWSR1

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