Busch Lab

ZMP

ezr

Ensembl ID:
ENSDARG00000025091
ZFIN ID:
ZDB-GENE-050803-1
Description:
villin 2 [Source:RefSeq peptide;Acc:NP_001025456]
Human Orthologue:
EZR
Human Description:
ezrin [Source:HGNC Symbol;Acc:12691]
Mouse Orthologue:
Ezr
Mouse Description:
ezrin Gene [Source:MGI Symbol;Acc:MGI:98931]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa23649 Essential Splice Site, Missense Available for shipment Available now
sa14485 Essential Splice Site Available for shipment Available now
sa14899 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa23649
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:
T > A
Consequence:
Essential Splice Site, Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078893 Essential Splice Site 64 583 None 14
ENSDART00000123177 Essential Splice Site 64 583 None 13
ENSDART00000124955 Missense 65 585 3 18

The following transcripts of ENSDARG00000025091 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 20 (position 13516478)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 13705724
GRCz11 20 13601704
KASP Assay ID:
2261-4047.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATATATGGACAGCAAAGGCTACCTTACATGGCTGAAACTTGACAAAAAGG[T/A]AATTGTACAATTTTTTTTAACAACCGATTGTCAATGCTAATATTATAATA
Long Flanking Sequence:
CAAATCTTACTGGTGTAAATCTTTAAAATTTTGTAAAAATCTAAACTCTTTTTGTACAGTAAAAATACCATAGTGAACTCCGCCTTTGGGAAATAGTGTAAATGCTTATAATGCTTGTGGAATCTAAACTGGTTCTTACTCAACACCACCCCTGCTGAGTGTGGATGAGCTAATGACCTATTTAGTGACGTGTCGGTGGGAAAAATAGTGTATACTCTATTAAAAGCCTAAAATATGTTCTTTTTATATCCCACATGTCTCATGTTTTTACTGTAAAGTCACCCTGTTCTCTGTTGTATTTCAAATCAGCAAATATCGAAGAGTTATAAAGCAGTCAGCAACTGATTAATAATTCATTCATCCATTTGTTGTGTGCTAAAAGGTGTCATTTTTATCCTGACAGGTGGTGAAGACCATCGGGTTACGTGAAATATGGTACTTTGGGCTTCAATATATGGACAGCAAAGGCTACCTTACATGGCTGAAACTTGACAAAAAGG[T/A]AATTGTACAATTTTTTTTAACAACCGATTGTCAATGCTAATATTATAATATATATATTTTTTATAAATCTTAATCGGGGATTTAGCTTTTATCTATGTAAATTCAATATGGTGTCTCTCTTTGCTATAAATTTATTAAAGAGTGTTTTTTTTTATTTTGTATTTTTATTATATGTGAAATAGGTTATCAGCATGGTCTTAAATTCTTAAGTTCACTGAAATATTGTCTTGTAGGTCTTAAATAATTTTAAACAGGTCTTGATTTTTTTATTGTTTATAAAAAGCTACCCAGTATATCCAAACGCATCCAATCACTAAACAGTACATCTCCACAAACTTTAAACAAAACTACTCATAACTAATATTAAAACTAGGGATGCTCTGCTCAGGATTTTTGCAGCCGATACCAAGTACCGATTCATTGTTCTGGTGATCGGTCAATACAGAGTACTGATTCTAATGCTTCAAGCATCATAATGCATAAAAGCACATTTTCCCTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14485
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078893 Essential Splice Site 184 583 6 14
ENSDART00000123177 Essential Splice Site 184 583 5 13
ENSDART00000124955 Essential Splice Site 184 585 6 18

The following transcripts of ENSDARG00000025091 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 20 (position 13508224)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 13697470
GRCz11 20 13593450
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGGAGGAGAGGATTCAGGTGTGGCACGARGAACATCGKGGGATGCTCAGG[T/C]AAATTTGACATTTACTGTAGTCATTTGGGATGTACAATATTAGATGAAGC
Long Flanking Sequence:
CATTATTCTAGAAAGGTTTGTTTGAGCTCGGCTGCACAGATGTAAATGTACATTAATTTACATTTCCTTCAGCCTGAGCTTGATTCACATTTTAGTTTCCTTTTTTAAGAGGTGGTCAATTTGATGATACTTTAATGAGTTGCCCTTTACTTCAGACACCTCACTCTGTGTGATCAGCTGAAATGAACAACAAAAACATAAAAGCTATTTTATTACATTTAGTTTTTACATCTGCACACAGCTTTTAACACTCCAAAGCTGGACTTGTACACGAATCAATCGAAACTAATCATCATTTTTGTGTCACACCTGATAACAATGCTAACCATCCAAGCCTCATTGATCACACTCTGTCCATTTAGATTGTGATCCTTTACTATGTCTACAGCATTTTCTTCGTTATTGTGTCCTGCAGGGTTCTGGATCAGCACAAGTTGTCACGGGAACAGTGGGAGGAGAGGATTCAGGTGTGGCACGAGGAACATCGGGGGATGCTCAGG[T/C]AAATTTGACATTTACTGTAGTCATTTGGGATGTACAATATTAGATGAAGCTGTAGAATTTGTATTGCAGTGTGAATCCATTAATTATAGTTAATTATAGATGATTTCATTCTTAGATTTTACATATATCAACATGCTGGTATTCAGTGTAAAATGGGTGTAACTGTTGGTTTCTTATGCTCAGGACCAAACAGAATCTGTGTACATTTTTTGCTATTTCTGCAGAGAAAAAAAACAGTGGATTTATGCAGAATGATTTGTTTCTTAACTAAACTTATTATATGGAATAAAAAAAACAATAGCTTTTGAACTTTTATTCAATGTTTACAATGCAAATCCAATTAGATTCACTTATTTGGTAAACCAAGCAATGTTCTCATATAATATATCTACTAAAAGACAGAAAATATTACTTTATAAACTGTATTGTAAATAAATCATATATTAAACCATATATATATATATATATATATATATATATATATATATATATATATATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14899
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078893 Nonsense 191 583 7 14
ENSDART00000123177 Nonsense 191 583 6 13
ENSDART00000124955 Nonsense 191 585 7 18

The following transcripts of ENSDARG00000025091 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 20 (position 13505619)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 13694865
GRCz11 20 13590845
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAAGATTGATGTTGTATTTGTGTTCCTAGAGAGGACGCAATGCTGGAGTA[T/A]TTGAAAATCGCTCAGGATCTGGAAATGTACGGCGTGAACTATTTTGACAT
Long Flanking Sequence:
TTTATATGTTGTTATTACAGCATTTATTTATTTTTTGAATCTTATTGTTTTGCTTTAGTTTTTATTTCCTGTTTAGTTTTTAACAGGAAGTTAGTTTAGTTTAGGCTCGTTTAATTCTTTAAAATCAGATTTGTTGTTTTTTGGTAGACATAAATAAACAAATCAATTTTAGTTGACTTTTTTTTAAATAAATACATGATTTTAGTTAACAGTAACACCACTTAATCAAGTACTTTTCATCTGCAAAGCATTTATTTATCTGTGTTATGTGATTATTAAGCGTATGGTTATGCAATCTATTTGCACAATGTTATGTAATATGTGAAACCCTAAACTGATAACATACTCTGTGGGATTTTCTTTAAATCCATTTTGATTTGCTAGTAAACTTTACTGATATATGCAAACAAATGGCAAGTAACACATTAAAGTAAACATATTTTAAAGCAGAAAGATTGATGTTGTATTTGTGTTCCTAGAGAGGACGCAATGCTGGAGTA[T/A]TTGAAAATCGCTCAGGATCTGGAAATGTACGGCGTGAACTATTTTGACATCAAGAACAAGAAGGGAACAGAGCTGTGGCTGGGTGTGGATGCCCTGGGCCTAAATATCTATGAGAAAGACGACAAGTGAGTTTAGCCTTTCCCTTTATTCAAGTCTAAAATACTGCCATCAATGAAACCTAAAGGCTCTTTTCCTCAAAATATAGCTATATATTTTTTCGCCTGCATCTCTGTCAGCTCTGTTAATTTTTTTCAAAATGTTAACAAGAAGTTCAAGAACATTTAGTAGCAGAATCAAATGCTTCCCATAACATTTGCACATTAGTTTATATAAACAATGCATTCAGTTTACTGTAAATAAGAAGTTGTTTTATATCATTACAGTTTAAGGAAAATGAATGGAAAGTGCTTAATGTACCTGCAGTTATTTACACCAGCCTGTGATAATTGCCAAGCGTGTTGCTAATTTTCAGTGACATTTGTAATTTGAGGACATGATTC
Associated Phenotype:
Not determined