Busch Lab

ZMP

si:ch211-119c24.3

Ensembl ID:
ENSDARG00000069196
ZFIN ID:
ZDB-GENE-091116-50
Human Orthologue:
EBF1
Human Description:
early B-cell factor 1 [Source:HGNC Symbol;Acc:3126]
Mouse Orthologue:
Ebf1
Mouse Description:
early B-cell factor 1 Gene [Source:MGI Symbol;Acc:MGI:95275]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa8686 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa8686
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100508 Essential Splice Site 162 603 6 17
ENSDART00000136729 None None 408 None 10

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 21 (position 32938983)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 33938676
GRCz11 21 33973166
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGCACAATACTGCTTTCTTAGCTAATTTTGTTTTGTTGTTGTCCTTTTA[G/A]TCGATGCTGCGACAAAAAGAGTTGTGGAAACCGCAATGAGACACCCTCTG
Long Flanking Sequence:
CGTTCTGCTAGACCTTCACAAATGGGAATTCTTGATCAACTTGCAAGCAAGCAGTACTGTTAAACACAAATATATGCAGTTTTGTGTTTTTGTGGTGGTGTAGTGCTAAAGTGAGTGATATAAAATAAATGTAAATGTCAGCAAGACAAAAGAAAAATCCTTCTTATCTTCCATTATTGATGTTTCTATTCTTGCAATCCATCACGACTCGTCTGTTAAAATATTAAGAAGAAAAAAGTCTTTTGTCTTTCATATTTTAGTCAATGTCACTTGCTCTGCCTCTGAAGGAACTTTCCTATTTTATTGATGTCATTTCACCCTCTTTTAAGCCACTCCCCTTTAACATCTATCTGAAACTAGTTTTCTGTGTTGAATTAAAATACTGTTGTGTTTAGTTTAGCTTTCATGAACATTGATTTGTAAAAATAAAACCCTAAAATGCCTTATTGAATGCACAATACTGCTTTCTTAGCTAATTTTGTTTTGTTGTTGTCCTTTTA[G/A]TCGATGCTGCGACAAAAAGAGTTGTGGAAACCGCAATGAGACACCCTCTGATCCAGTCATCATTGACAGGTAGGTACTTGTGTGTCTAAAAACATTTGATACCTTTGTTTTTATAATCTCACAAAAATAGAGTCTGTGGTTGAAGTTTTCGTGACATGCTGAAGTAATCACGGTCTGCTCCGTGTGTGTTTAAGTCACTTGTTAGTGAACTGCTCTGTCAAATATTTTTAAATTTTGTTGTGGCGTTAGGATTGGCTGAGCACAAACACTTGATATTTATGTGCTTTTTTATTGCTGTCTTTGCTTAGGTAAATTATTGGCATAAAGTCTTTAGACATAGCTTTTGTTAAAAGTGTTTATATAATTTCTCTTGAAAAGATGTTAGCGATTGAGATAATATCTACATGGTATGTACTTCAAATTGATATCTGGCCTGGTTTTGAATTTTGGTTCCCTTTGAATTATGGTACAAAAGACAGTGTTCTTGGTCCCTTTTGTTC
Associated Phenotype:
Not determined