Busch Lab

ZMP

si:dkey-148b12.1

Ensembl ID:
ENSDARG00000012776
ZFIN ID:
ZDB-GENE-070705-296
Description:
probable global transcription activator SNF2L1 [Source:RefSeq peptide;Acc:NP_001093467]
Human Orthologue:
SMARCA1
Human Description:
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 [S
Mouse Orthologue:
Smarca1
Mouse Description:
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 Ge

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa40402 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa40402
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020725 Essential Splice Site 103 1036 3 25

The following transcripts of ENSDARG00000012776 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 23667438)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 21380310
GRCz11 5 21884110
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACCCCGAATCAAACAGGATGAGAAGCAGAACCTCCTTTCAGTTGGAGAG[T/G]GAGTCACACACATACACACACAGAGAGAGACAGATGTGTCATCATAATGA
Long Flanking Sequence:
TATGTAGTTAATTTGTATATTTATTTATAACAGTGTATTATTTATAACTGTACATCCTGGCATGCTGTTAAAATTGCCTCTCAAGGACTTTGATTAGATACAAGTGATAAATAATCACATTATATTATATAATATAATATACACAATAATCTTATAAAATTATAATATAATTTATAAATTATTTATTTACTTTTTTATTATATTTTTTCCCTCTGAAGCACCATGTATATTTACTGTATTTGACCAAACACGGTGAAGTTAAATTAAGTTTGAAGTGATCTTTTGCACGTCCGATTTAACTCAAAAGTCTTCCTCTTTGTTTTTGTCTGTAGAAAACTGACCGTGCGAACAGATTTGAGTTCCTGCTGAAGCAGACTGAACTGTTCGCTCATTTCATTCAGCCTGCCAGTCAGAAGTCCCCCACGTCACCTCTGAAGGTGAAAATGGGGAGACCCCGAATCAAACAGGATGAGAAGCAGAACCTCCTTTCAGTTGGAGAG[T/G]GAGTCACACACATACACACACAGAGAGAGACAGATGTGTCATCATAATGATTTGGCCTTATTCATTTCTGGATGTGTGTTTCAGTAACCGGCATCGTCGAACAGAGCAGGAGGAGGACGAGGAGCTCCTATCTGAGAGCAGGAAGGCAGATAATGTTCTTGTTCGTTTTGAGGAGTCACCCTCATGTATGAATCACTGTTTTTATGAGCAGTCCATCTGTTTCTGTTTACACAAATAGTAATTAACAGTGGTAGATTAATAATTCATTGGTTATTTTAAAAAGAGCCTGTCATTATTTACTCATCCTCATGTCATTAGAAACCCATTTGCTGATTTTTTTTTCCAATGGAACACAAAAAATACTGCAATGTTAATGACATGACATTCACTTATGAGACAGCCTACAATTCATGACATTTGATTTAATTGACATCTGAAGATTTAATTGTCACTTTTAAATAATGAATTTTGCCCTGTTCCTCATGCTGATGACTTTTATG
Associated Phenotype:
Not determined