ZMP
LOC556476
Ensembl ID:
Human Orthologue:
EBF3
Human Description:
early B-cell factor 3 [Source:HGNC Symbol;Acc:19087]
Mouse Orthologue:
Ebf3
Mouse Description:
early B-cell factor 3 Gene [Source:MGI Symbol;Acc:MGI:894289]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa36382 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa28835 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa36382
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000125758 | Nonsense | 107 | 543 | 3 | 17 |
Genomic Location (Zv9):
Chromosome 17 (position 20058304)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 20208315 |
| GRCz11 | 17 | 20228151 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTAGGAACCAGTGAGTGAAAAAACAAACAATGGAATCCATTACAAACTT[C/T]AGTTACTCTACAATAATGGTGAGCACTTTATATATTACCTACGTTTTTTA
Long Flanking Sequence:
TTAATAAGACAAGATATATACATGTTTAGTGGTATAATTAGGTAAGAGACAAGCAAAGGTATCTTAATTTTTTTTTAATAGTAGGCTAACTCTTATGAGAAATCTATATTACTCTGGAATCCAGTTTGCTATAGAAAGTTTGCTTCTTTCAAACATTGTGCAAATTATTTCAATTTAAATGACTTAGAACAATTGTTTCTGTTCCCGGCAGAGATGTTGGTCTTGCTCGAGCACACTTCGAGAAACAGCCGCCTGCAAACCTGCGCAAGTCAAACTTCTTTCACTTTGTTTTGGCTTTATATGACAGTCAGGGTCAGTCTGTGGAAATAGAGCAAACTGCATTTGTGGATTTTGTTGAAAAAGACAAGGTGAGGAGAAATGTGGAAAAAATCAAACATATTTTAAGAATGTCAAAATAAGAAAAGCATATATTGATTTGTCCATTTATGATTTAGGAACCAGTGAGTGAAAAAACAAACAATGGAATCCATTACAAACTT[C/T]AGTTACTCTACAATAATGGTGAGCACTTTATATATTACCTACGTTTTTTAAGAAACATAAATGATGTTCAGTGCTGATCTTTCGCTTTTTAGGTGTCAGAACAGAGCAAGATCTCTACATCCGTTTGATAGACTCTGTGACCAAACAGGTAAAGCATTGTATGTACATTTACACTTTTTAGTACTTTACTTTTAGTGCTGAAAGATTGCAATAGTCAAGAATATTTTTTAAAACCCAGCAGTTTTGTTTTGTTAGGTATTATTGTTAATAACTTAACATATGATAATTACACTGAACAATAAGCTAAGCAATAAGTTGATGTACTTACTAACGTGAACAAACAATGAACAATACATTCATTCCAGTATTTAATCATCTTTGCTAACATTGGTTTATAAAATAGTTCATGTTACCTCACAGTGCATGAACTAATGCTAACAATAATTATCTGTATTGTATTAAAGCATCAGTAAATGTTGAACTATGATTAATAAATGCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa28835
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000125758 | Essential Splice Site | 437 | 543 | 13 | 17 |
Genomic Location (Zv9):
Chromosome 17 (position 20053044)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 20203055 |
| GRCz11 | 17 | 20222891 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTCAGTTAAGCTTGAACACAGAGGTTTCCCAGCAGGATGCAGAACGAGG[T/A]ATGCAGAATGTTCAGTGCACGTGAAGATGCTACACGTGCTCCAGTCGTTT
Long Flanking Sequence:
TTTTTTTAAATGTTGAATGATCGTAAAAAAAAAAAAAGTGTCTGGTGCAAATCTGTTGCAAGTGTTGATTTAATATGCCGGCGAGATGAAAGTGGGTTTTCTACTGGTGGTTTGTCAAACCCATCACCCTGACTAATATGAGATATTTCTGTTGTCTCTAATTTATTTTTATTTTTTGATGTTTCTTGCTGTTTTTTTTAACTCAGCAGCAGAGTTCAACCTCAGGCTTTTACCTGTCTTTTTGTTCATGGATTGTAATGCTTTACTGAATATATAAAAAAAATGAATAGTGAAAAATTGCTTCTGAAAAAGTGTTGCATTGTGATGCATATGTGACAACAGGAAATTATTCTGAAGCGTGCATCTGACATAGCCGAGGCATTAAACAGCATCCCTCGAAACCCATCGCACACAAATCCACATGGGATGATGGCTGTAAACTCCTATGATGGTCAGTTAAGCTTGAACACAGAGGTTTCCCAGCAGGATGCAGAACGAGG[T/A]ATGCAGAATGTTCAGTGCACGTGAAGATGCTACACGTGCTCCAGTCGTTTGTTTTAATGTATGTCTTATTGTCTCTTTCAGCGAGTTTCAACAGGAGTTCAAACACTGGCTTTATTGAAGGCAGCACATCCCAACAGTCTGAATTCAACAACACCAACATGTGCATGAATGGACTCACACATTCACACTCAAACACACACCTGTCCGGACACACACAAACACACACACGCCCCGCTGTGCCAAATTTCTCTATGGCTGCCACACAAGTGTTCAAAGACAATCCCACAGTGGACACACAGCACTATGTAGGTAAGAACATATTTTTCTCTCTTTTTGTGAGGCCTTGAAAACCAACTAAAATATTAAGAATTTTAAAAAAAAGCAACCTTCCACATTTATCTTTAAAAATACTGATTTGATATTTTAAAAAGTTTCTGTTTTAAAATACAGTTGAATTTTGAATGCATTTAAATTGCAGATACTTTATTACTTTTTTGCAT
Associated Phenotype:
Not determined