bhlhe40

Ensembl ID:
ENSDARG00000004060
ZFIN ID:
ZDB-GENE-030131-3133
Description:
class E basic helix-loop-helix protein 40 [Source:RefSeq peptide;Acc:NP_997844]
Human Orthologue:
BHLHE40
Human Description:
basic helix-loop-helix family, member e40 [Source:HGNC Symbol;Acc:1046]
Mouse Orthologue:
Bhlhe40
Mouse Description:
basic helix-loop-helix family, member e40 Gene [Source:MGI Symbol;Acc:MGI:1097714]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa16419 Nonsense Available for shipment Available now
sa38854 Nonsense Mutation detected in F1 DNA During 2016
sa21951 Essential Splice Site Available for shipment Available now
sa35135 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa16419
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
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Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000026017 Nonsense 56 403 3 5
ENSDART00000128382 Nonsense 56 403 3 6
Genomic Location (Zv9):
Chromosome 11 (position 36603369)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35500597
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TATAGTTTTATCTGCTGACCCCYAGGAWACGTACAAACTGCCTCATCGAT[T/A]GATCGAGAAGAAAAGAAGAGACCGAATAAACGAGTGCATCGCGCAGTTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38854
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 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000026017 Nonsense 112 403 4 5
ENSDART00000128382 Nonsense 112 403 4 6
Genomic Location (Zv9):
Chromosome 11 (position 36602832)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35500060
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACTCACACTCAAGCATGTGAAGGCTCTTAACAACCTGCTGGAACAGCAA[C/T]AACAGAAGATCATTTCCTTGCAGAATGGATTGCAAATCGGTGAGTTTTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21951
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
ENSDART00000026017 Essential Splice Site 124 403 4 5
ENSDART00000128382 Essential Splice Site 124 403 4 6
Genomic Location (Zv9):
Chromosome 11 (position 36602792)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35500020
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGAACAGCAACAACAGAAGATCATTTCCTTGCAGAATGGATTGCAAATCG[G/A]TGAGTTTTTGATAATACCAAAAGGTCGGCACATCAAATGTGTGACCATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35135
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 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000026017 Nonsense 246 403 5 5
ENSDART00000128382 Nonsense 246 403 5 6
Genomic Location (Zv9):
Chromosome 11 (position 36602199)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 35499427
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAGCAGAGCGGGAGTGATACGGACACCGACAGTGGCTATGGGGGCGAGTA[C/A]GAGAAGCGTGACCAGAAAGCTCAGCGGCCGGACTGCTACGTAAAAGAAAG
Associated Phenotype:
Not determined

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