ERBB4 (3 of 5)

Ensembl ID:
ENSDARG00000089167
Description:
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) [Source:HGNC Symbol;Acc:3432]
Human Orthologue:
ERBB4
Human Description:
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) [Source:HGNC Symbol;Acc:3432]
Mouse Orthologue:
Erbb4
Mouse Description:
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) Gene [Source:MGI Symbol;Acc:MGI:104

Alleles

There are 6 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa24834 Nonsense Mutation detected in F1 DNA During 2016
sa25517 Essential Splice Site Mutation detected in F1 DNA During 2016
sa32585 Nonsense Mutation detected in F1 DNA During 2016
sa32584 Essential Splice Site Mutation detected in F1 DNA During 2016
sa6573 Nonsense Mutation detected in F1 DNA During 2016
sa19414 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa24834
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:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092114 Nonsense 150 609 4 15
Genomic Location (Zv9):
Chromosome 1 (position 6247146)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 6695735
KASP Assay ID:
554-7622.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACGAAGACGGTGTGTGCGGAGCAGTGTGACGGTCGATGTTTTGGACCGTA[T/G]GTCAGTAACTGCTGTCACCGTGAATGTGCAGGGGGCTGTTTCGGACCCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25517
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:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092114 Essential Splice Site 173 609 5 15
Genomic Location (Zv9):
Chromosome 1 (position 6246462)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 6696419
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTCATGTTTTATCCGTCAAACCTGAGCTCATGTGACTGTTTTCTGTTTTC[A/T]GGCTTGCACCAACTTTAATGACAGTGGTGCCTGCGTGACTCAATGTCCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32585
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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092114 Nonsense 187 609 5 15
Genomic Location (Zv9):
Chromosome 1 (position 6246416)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 6696465
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTCAGGCTTGCACCAACTTTAATGACAGTGGTGCCTGCGTGACTCAATG[T/A]CCTCAACCATTCGTCTACAATCCAACGACCTTCCAGCTCGAGCACAATCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32584
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:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092114 Essential Splice Site 258 609 7 15
Genomic Location (Zv9):
Chromosome 1 (position 6242806)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 6700459
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAGTACAATACGGTATCTCATATGCCTGTGTATGTTTGTTTGTGGTGTTT[A/G]GTGTGTGATGGTATAGGAACCGGCAGCCTTCAATCAGCCCAAACTGTTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6573
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
ENSDART00000092114 Nonsense 371 609 10 15
Genomic Location (Zv9):
Chromosome 1 (position 6238826)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 6704440
KASP Assay ID:
554-4664.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCAGTGGTATTTCTCTGCTGATCCTRAAGCAGCGCTGGATCACGTCTCTG[C/T]AGTTTCAGTCTCTGAGAGAGATCAGCGCYGGTAACGTCTACATGACCAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19414
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:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092114 Essential Splice Site 498 609 13 15
Genomic Location (Zv9):
Chromosome 1 (position 6220652)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 6722359
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CATTTTCAACAAGTTAAGTGTCATTCTCCTGTATTCTGTTTTCATGTTTT[A/G]GGGACCAGATCACTGTGTGAAGTGTCTGCATCTCAAAGACGGGCCCAACT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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