si:ch211-227i14.2

Ensembl ID:
ENSDARG00000074040
ZFIN ID:
ZDB-GENE-081104-186
Description:
Novel protein similar to vertebrate E1A binding protein p400 (EP400) [Source:UniProtKB/TrEMBL;Acc:B0
Human Orthologues:
EP400, EP400NL
Human Descriptions:
E1A binding protein p400 [Source:HGNC Symbol;Acc:11958]
EP400 N-terminal like [Source:HGNC Symbol;Acc:26602]
Mouse Orthologue:
Ep400
Mouse Description:
E1A binding protein p400 Gene [Source:MGI Symbol;Acc:MGI:1276124]

Alleles

There are 6 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa38707 Essential Splice Site Mutation detected in F1 DNA During 2017
sa27259 Nonsense Mutation detected in F1 DNA During 2017
sa21364 Nonsense Available for shipment Available now
sa21365 Essential Splice Site Available for shipment Available now
sa5775 Nonsense F2 line generated During 2017
sa1673 Essential Splice Site F2 line generated During 2017

Mutation Details

Allele Name:
sa38707
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 2017.
Mutation:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111655 Essential Splice Site 415 3108 3 63
ENSDART00000138261   None 184 None 3
ENSDART00000145142 Essential Splice Site 437 1616 2 24

The following transcripts of ENSDARG00000074040 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 46419676)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 43723813
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTATTTTCTGTGGCTTTGTATCTTTCATCTGTTTCTATGACAACCTCTC[A/G]GGTGAAAGTAGTGACTGGAAAGGATGGACAGACAGTGACTCCGGTTGCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa27259
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 2017.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111655 Nonsense 876 3108 12 63
ENSDART00000138261   None 184 None 3
ENSDART00000145142 Nonsense 898 1616 9 24

The following transcripts of ENSDARG00000074040 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 46427789)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 43715700
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCAAGCATCATTTTGAGATCTACGACAAACAAAAAAAAGTTCTCTGCTTG[C/T]AGAAGGCTTCGAGTAAAGGTGAGATTGAGAAATGAAAACTTTATGGCCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21364
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
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111655 Nonsense 1667 3108 29 63
ENSDART00000138261   None 184 None 3
ENSDART00000145142   None 1616 None 24

The following transcripts of ENSDARG00000074040 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 46441714)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 43701775
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCCACACCACCACAAGGTGAGGCACTGCTCCGTTCTGAAGCTGATTTTTA[T/G]CTTCATGTGGGTTGGCCAACAAGGTTTTTGAAAACTAGGCCCAGCAATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21365
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
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111655 Essential Splice Site 2200 3108 39 63
ENSDART00000138261   None 184 None 3
ENSDART00000145142   None 1616 None 24

The following transcripts of ENSDARG00000074040 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 46453268)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 43690627
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGACGAAGAGGATCTGCTCTCCTATACTAGAGAGGATGCATACAACATG[G/A]TACAAATATATTTTAGCTAGTTGTTGTGTAAAATATGATGTGGCATAGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5775
Current Status:
F2 line generated
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 2017.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111655 Nonsense 2509 3108 47 63
ENSDART00000138261   None 184 None 3
ENSDART00000145142   None 1616 None 24
ENSDART00000111655 Nonsense 2509 3108 47 63
ENSDART00000138261   None 184 None 3
ENSDART00000145142   None 1616 None 24

The following transcripts of ENSDARG00000074040 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 46456757)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 43687138
KASP Assay ID:
554-3480.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCAGGCACTAGCCGAACAGCAGAGGGCTCAGCAGTTAGCCCAACAGCAG[C/T]AGCAGACCACAGGMGCYGCTCAGCCTCAGGGAGCAGCAGCACAGCCYCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1673
Current Status:
F2 line generated
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 2017.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111655 Essential Splice Site 2573 3108 48 63
ENSDART00000138261   None 184 None 3
ENSDART00000145142   None 1616 None 24

The following transcripts of ENSDARG00000074040 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 46457847)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 43686048
KASP Assay ID:
554-1619.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGACTGGAGCCCTCAAGACTGCTGCAGCAGGCACAAGCATCCAGCCAGG[T/G]ATCATCACATTACACRTTTTTTCTGTACTTGTTTGTACTATTTATGTATT
Associated Phenotype:
Not determined

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