Busch Lab

ZMP

SMARCA4 (2 of 2)

Ensembl ID:
ENSDARG00000008350
Description:
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 [S
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 4 alleles of this gene:

Allele Name Consequence Status Availability
sa24812 Nonsense Available for shipment Available now
sa24813 Nonsense Available for shipment Available now
sa44439 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa24812
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003698 Nonsense 278 678 9 17
Genomic Location (Zv9):
Chromosome Zv9_NA996 (position 3183)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 75195
GRCz11 6 93246
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCGAGCCTCGGGGAAGTTCGAGGTGCTGGACCGCATTCTGCCAAAACTA[C/T]GAGCCACAAACCACAAAGTGCTGCTCTTCTGCCAGATGACGTCTCTGATG
Long Flanking Sequence:
TGTGGTGAAGATGACCTGTTTTGCCTTGTTTGATTGATTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCAGGGTAAAGGCGGCACTAAGACTCTAAAGTACACTATAATGCAGCTGAGGAAGATCTGTAATCACCCCTACATGTTCCAGCAGATTGAGGTGTGTAACACGCATGGCATAATGTGTGTGTGTCATAGTGTGTGTGTGTGTGTGTGTGTGGTAGTGTGTGTGTCGTCTGGCGATGGTCTGTTGTTCTGATTGTGAACCGCTGCTCTTGCAGGAGTCATTCTCAGAGCATCTGGGCTTCTCCGGCGGAATCGTTCAAGGGTGAGCGCAAACACACACACACACACAAATACACACACACACACACACACACACATATATCTGATCGCACATCATTACTGAACTGATTAACCTTCATTATGATCTGACCCACAGGCTGGATTTATACCGAGCCTCGGGGAAGTTCGAGGTGCTGGACCGCATTCTGCCAAAACTA[C/T]GAGCCACAAACCACAAAGTGCTGCTCTTCTGCCAGATGACGTCTCTGATGACCATCATGGAGGATTACTTCGCCTACCGCAACTTTAAGTATCTGCGTCTGGACGGTGAGTGTGTGTTGCAGTGCTGTGTTTGCTCATGTTGGTGTGGATTGTGTGTTGATGAAGATCTCCTGAAGACCTCCTCAGAGATCAGCTTAATTCAGAACAGGCAGAAGACGAATGCTGGACTGCCGGGATTAGGGTTTGTGTGTTTGTGTGTTTTAGGCACCACGAAGGCTGAGGACCGGGGGATGCTGCTGAAGACCTTCAATGATCCGGCCTCTCAGTACTTCATCTTCCTGCTGAGCACCAGAGCGGGCGGCCTGGGCCTGAACCTGCAGAGCGCCGACACGGTCATCATCTTCGACAGCGACTGGAACCCTCACCAGGTACACGCCTTCATCTTCATCTTTATCACCGTAATCGTCATCTTCATCTTCCTTCTCTGCTGTTCTGCAGGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24813
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003698 Nonsense 441 678 11 17
Genomic Location (Zv9):
Chromosome Zv9_NA996 (position 3901)
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGAGTCATGAGCGGCGAGCGTTTCTGCAGGCAATCCTGGAGCACGAGGAG[C/T]AGGACGAGGTGAGGAGGGACAGGACAGCTCACAGTCAGACCAATAACCTG
Long Flanking Sequence:
GAATGCTGGACTGCCGGGATTAGGGTTTGTGTGTTTGTGTGTTTTAGGCACCACGAAGGCTGAGGACCGGGGGATGCTGCTGAAGACCTTCAATGATCCGGCCTCTCAGTACTTCATCTTCCTGCTGAGCACCAGAGCGGGCGGCCTGGGCCTGAACCTGCAGAGCGCCGACACGGTCATCATCTTCGACAGCGACTGGAACCCTCACCAGGTACACGCCTTCATCTTCATCTTTATCACCGTAATCGTCATCTTCATCTTCCTTCTCTGCTGTTCTGCAGGACCTCCAGGCGCAGGACCGAGCACACCGCATCGGGCAGCTGAATGAGGTGCGGGTTCTGCGTCTCTGCACCGTCAACAGTGTGGAGGAAAAGATCCTGGCGGCCGCAAAATACAAGCTGAACGTGGACCAGAAGGTGATCCAGGCCGGGATGTTCGACCAGAAGTCGTCGAGTCATGAGCGGCGAGCGTTTCTGCAGGCAATCCTGGAGCACGAGGAG[C/T]AGGACGAGGTGAGGAGGGACAGGACAGCTCACAGTCAGACCAATAACCTGAGCAGACGCCCGCTATACTGCACATGAAGTAGTGTGAAAGACAGAGCGGCGCGTTACTGATCTCAGCACTGCGGCGCTGCTGTAGGTGTGGCTGTGAAGGTGTGGCGCTGCAGTAGGTGTGGCCGTGAAGGTGTGGCGCTGATGTGGGTGTGGCTGTGAAGGTGTGGCGCTGCTGTGGGTGTGGCTGTGAAGGTGCGGCGCTGCAGTAGGTGTGGCTGTGAAGGTGTGGCGCTGCAGTAGGTGTGGCCGTGAAGGTGTGGCGCTGCAGTAGGTGTGGCTGTGAAGGTGTGGCGCTGCTGTGGGTGTGGCTGTGAAGGTGTGGCGCTGCTGTGGGTGTGGCTGTGAAGGTGTGGCGCTGCTGTGGGTGTGGCTGTGAAGGTGTGGCGCTGCTGTGGGTGTGGCTGTGAAGGTGTGGCGCTGCTGTGGGTGTGGCTGTGAAGGTGTGGCGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44439
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003698 Essential Splice Site 466 678 13 17
Genomic Location (Zv9):
Chromosome Zv9_NA996 (position 7972)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 77634
GRCz11 6 95685
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTCCTCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTTTGTGTCCTGC[A/C]GCGGATGGATCTGGACCGCCGGCGTGAGGAGGCGCGGAACCCGAAGCGTA
Long Flanking Sequence:
TTCCTCTGCTGTAGTTCCCCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTGCTGTAGTTCCCCTGCTGTAGTTCCCCTGCTGTAGTTCCTCTGCTGTAGTTCCCCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTGTAGTTCCCCTGCTGTAGTTCCCCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTGTAGTTCCCCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTGTAGTTCCCCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTGTAGTTCCCCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTGTAGTTCCCCTGCTGTAGTTCCCCTGCTGTAGTTCCCCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTGTAGTTCCCCTGCTGTAGTTCCTCTGCTGTAGTTCCCCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTGTAGTTCCTCTGCTTTGTGTCCTGC[A/C]GCGGATGGATCTGGACCGCCGGCGTGAGGAGGCGCGGAACCCGAAGCGTAAGCCGCGGCTGATGGAGGAGGACGAGCTGCCCACCTGGATCATGAAGGATGACGCAGAGGTGGAGCGACTCACCTGTGAGGAGGAGGAGGAGAAGATGTTCGGCCGCGGCTCCCGCCAGAGGAAGGAGGTGGACTACAGCGACTCACTGACCGAGAAACAGTGGCTGAAGGTGTGTGTTTGTGTGTGTGTGTCTGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGAGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGAGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGAGTGTGTGTGTGTGTGTGTGTGTGTGTCTGAGTGTGTGTGTGTGTGTGTGTGTGTCTGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGAGTGTGTGTGTGT
Associated Phenotype:
Not determined