Busch Lab

ZMP

smarca4

Ensembl ID:
ENSDARG00000077226
ZFIN ID:
ZDB-GENE-030605-1
Description:
transcription activator BRG1 [Source:RefSeq peptide;Acc:NP_853634]
Human Orthologue:
SMARCA4
Human Description:
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [S
Mouse Orthologue:
Smarca4
Mouse Description:
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Ge

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa12514 Nonsense Available for shipment Available now
sa19981 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa12514
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
Order Allele From EZRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111443 None None 553 None 10
ENSDART00000115110 Nonsense 744 1627 14 33
ENSDART00000134514 Nonsense 744 1627 15 34
Genomic Location (Zv9):
Chromosome 3 (position 19084339)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 19112701
GRCz11 3 19262441
KASP Assay ID:
2259-3284.1 (used for ordering genotyping assays)
KASP Sequence:
GACGATGAATACGGGAACTCTGCATTCATTCGGGGCCTGCAGTCATATTA[T/A]GCTGTGGCCCACGCMGTCACAGAGAAGGTGGAAARRCAATCGAGTCTGCT
Long Flanking Sequence:
ATTTACTTTCATTAGTTAATTTAATTTAAGCTATTTCTATATATGTATGTTTTTTCAATTTACAAATTAATTTTATTTAGCACAAGTTATATCTGATTGTTTAGATATTTTGCAATTTATGACTTGCCATAATTATGTGAATGTAAAATGTAGAATTAACAATGTCTCAAGATTTGTCCATCTTACTGTATGTCCATCTATTTTGATGCTTTAAAGGATGATGAGGAAGAGCCTCAGCCCTCTCAGGCCCCGACAGAGGAGAAGAAGGTGATTCCTGATCCAGACAGCGAGGATGTTTCTGAGGTTGATGCTCGTCACATTATTGAGTGAGTCATTGGATTTAGCCTGGCTACATGAGCTCTTGCTCATTTAATCATTCTGTTGTCATAATTGTAGTTATAAGTGAATGAAATCCATGATGTGTCTTACAGACATGCCAAGCAAGATGTAGACGATGAATACGGGAACTCTGCATTCATTCGGGGCCTGCAGTCATATTA[T/A]GCTGTGGCCCACGCCGTCACAGAGAAGGTGGAAAAGCAATCGAGTCTGCTAGTGAACGGGCAGCTCAAACAATATCAGGTAGAAAAAGATATATTACTCTACAGTTTTTACTTTATTACAAACATGCTCTGTTTTAAAAATGTTTTAAACTAATTCCTGAGGTGCAGCTGATCACAGAGAGTTGGAACAGATCTTTTGGTCTCAGTGTCTTTGCAAATCCTATTCTGTGAACACGTTTATATGCATTGTATGCAACCCCCTCTACCATTCAGTGTGACCTTTTTTTCGACGTAATGCTTTTCTCTGAAGATACGTAACTTTTTCAGTTATTAATTATCATCACCGATCTCAGTTACCACAAAAGATCCCAGAAAATACTAAGATATGGATATAAAAACGAAAAATACACAGAGAGATTCTTGTTAATCTGGTGGCTTGTGCTTATTGCTTTCGTTCCGTCCACAGATTAAAGGTCTGGAGTGGCTGGTGTCTCTGTATAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19981
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111443 None None 553 None 10
ENSDART00000115110 Essential Splice Site 1140 1627 23 33
ENSDART00000134514 Essential Splice Site 1140 1627 24 34
Genomic Location (Zv9):
Chromosome 3 (position 19089867)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 19118229
GRCz11 3 19267969
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGGAGGACTACTTTGCTTACCGCAACTTCAAATACCTCCGCTTAGACGG[T/C]AAGTCATGTTCCTTGTTATTTAAGGTCATTAATAGTTCATTTAAAAGCAT
Long Flanking Sequence:
TCATCTTTCTGTGTGTTACAGGGCAAAGGGGGCACTAAGACACTGATGAACACTATTATGCAGCTGAGGAAGATCTGTAACCACCCGTACATGTTTCAGCACATTGAGGTGATCATTTACTCACACATACTCTATTTATGAATTCATTTATATCCTGTTTGTTTATCTGTTAGTAATGCATGCATGCGTGTTATCTGTTTTGCAGGAATCTTTCTCTGAGCACCTGGGCTTCACTGGAGGCATCGTTCAGGGGTGAGCAGAACTACTTCTCTTATAATAAGAACACCTTTGTATTTTATTTGCATCTCATCATGTCTTCTGGTGTTTTACAGGTCTGATTTGTACCGTGCCTCTGGTAAATTTGAGCTGCTGGACCGCATTCTGCCAAAGCTCCGCGCCACCAACCACAAAGTGCTGCTCTTTTGTCAGATGACCACACTCATGACCATCATGGAGGACTACTTTGCTTACCGCAACTTCAAATACCTCCGCTTAGACGG[T/C]AAGTCATGTTCCTTGTTATTTAAGGTCATTAATAGTTCATTTAAAAGCATCACAGGGCCACCGCAGGTCCTTAAAGTCTTCAATTAAGTTTTCTTTTCAAAGGACCTTAAAGTCCACATGAACCAGAAGCAGAGGCTGTTAATGTCATTTCATTTTATTTTTTTCTGTATTGTGACGCAATTCCTAGAGAAACAAAATATTAAATGAAAAACAAGTGAGCATGGCTTTTTGTTTCTACTCTGAGCTGACTAGATGTGGTAAAGTAGCCATTTTATTCAGGAAGATCTGGAAAAGGGTTTTAGGAGAGTTTTACAAACTAACGCCCGACTCACTCAGTCATCAGTGTCAACGCATCTCGTTCACTTTGAATGGGTGACGTGAAGCATTGCCGAACTTAATTATGGATCCATCGCCGCTGCTTCAGTGGCATTGCTTGCTGCAGGAGTTTGGAATTTCTCAACTTTTCAATCACCAAGCTTCGGTCTATCAGATAATTTTAT
Associated Phenotype:
Not determined