ZMP
BRSK1 (1 of 2)
Ensembl ID:
Description:
BR serine/threonine kinase 1 [Source:HGNC Symbol;Acc:18994]
Human Orthologue:
BRSK1
Human Description:
BR serine/threonine kinase 1 [Source:HGNC Symbol;Acc:18994]
Mouse Orthologue:
Brsk1
Mouse Description:
BR serine/threonine kinase 1 Gene [Source:MGI Symbol;Acc:MGI:2685946]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa35198 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa22011 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa35198
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000110247 | Nonsense | 182 | 696 | 7 | 21 |
Genomic Location (Zv9):
Chromosome 12 (position 5311341)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 4632923 |
| GRCz11 | 12 | 4667935 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCACTGACCTCACTGTCTTTGGCCTCCTAATTCTGTAGGGTGAGAAATA[T/A]GACGGTAGACGGGCTGACGTGTGGAGCTGTGGAGTCATTCTCTTCGCTCT
Long Flanking Sequence:
AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAAATAGATAGATAGATAGATCCACTGTAAACAACAGCTTCTTGAGGCATATTGTTTTGTTTCAGCATGACAGTTTGTAGCATGTTGCTAGCATGTTTTAGCACATGAGAATAGAGCAGCCTGAAGTTTAGCCGGCATAGTGCCTTAATTTTGAGTTTAATTTAGAACCAGAACAAACTTAATTAGTAGATCAGTTGGCTTTGTCATTTCTTAGTGTTCATCAAAATAAGTGGCAGTTTTTTCCACTGTTCTTTTATACATTCCACTCTTCCTCACACTCTTCTGTGCTGTTCTTATTTGCAGATCTCCTCATTATGCATGTCCAGAGGTGATCAGGGTAAGTCCATAGATCCAAAAAGTATTCTGCATGTTTTAGAGCATGACTGTGTCTGAAAGTGTACCACTGACCTCACTGTCTTTGGCCTCCTAATTCTGTAGGGTGAGAAATA[T/A]GACGGTAGACGGGCTGACGTGTGGAGCTGTGGAGTCATTCTCTTCGCTCTGCTAGTGGTGAGGAAATCTGCTTTTGCCAGAGCTCATAGGAGCACATTTTACTTCCTCCACTTCTCACCTGCTTCAGATTTTTAGCTCAAAGGCTGTTTAGCAAATAAGTGAATCTCTCAGTGCATGTCACTCCCATCTGTGTAACTTTGTCCTCTTGTCTGCTGTCCACAGGGCGCTCTGCCCTTCGATCACGATAACCTACGCCAGCTGCTGGAGAAGGTGAAAAGTGGCGTCTTCCACATGCCCCATTTCATCCCACCCGACTGCCAGGCTCTGCTGCGAGGCATGATCGAGGTCAACCCCGAAAAAAGACTCACGGTGAGAGCACGCTGTTTACTGTCAATATGCATGCTCGGCATGCTAGCCTGTTTACTTCAAAGGCCAGCAAATGCTTGGCCAATGCATTGCAAAAATACTGTGCATTTCTGCATTCATGGGATAAAGTATTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22011
Status:
Available for shipment
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:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000110247 | Essential Splice Site | 250 | 696 | 8 | 21 |
Genomic Location (Zv9):
Chromosome 12 (position 5311711)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 4632553 |
| GRCz11 | 12 | 4667565 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGCTCTGCTGCGAGGCATGATCGAGGTCAACCCCGAAAAAAGACTCACG[G/A]TGAGAGCACGCTGTTTACTGTCAATATGCATGCTCGGCATGCTAGCCTGT
Long Flanking Sequence:
TGTCCAGAGGTGATCAGGGTAAGTCCATAGATCCAAAAAGTATTCTGCATGTTTTAGAGCATGACTGTGTCTGAAAGTGTACCACTGACCTCACTGTCTTTGGCCTCCTAATTCTGTAGGGTGAGAAATATGACGGTAGACGGGCTGACGTGTGGAGCTGTGGAGTCATTCTCTTCGCTCTGCTAGTGGTGAGGAAATCTGCTTTTGCCAGAGCTCATAGGAGCACATTTTACTTCCTCCACTTCTCACCTGCTTCAGATTTTTAGCTCAAAGGCTGTTTAGCAAATAAGTGAATCTCTCAGTGCATGTCACTCCCATCTGTGTAACTTTGTCCTCTTGTCTGCTGTCCACAGGGCGCTCTGCCCTTCGATCACGATAACCTACGCCAGCTGCTGGAGAAGGTGAAAAGTGGCGTCTTCCACATGCCCCATTTCATCCCACCCGACTGCCAGGCTCTGCTGCGAGGCATGATCGAGGTCAACCCCGAAAAAAGACTCACG[G/A]TGAGAGCACGCTGTTTACTGTCAATATGCATGCTCGGCATGCTAGCCTGTTTACTTCAAAGGCCAGCAAATGCTTGGCCAATGCATTGCAAAAATACTGTGCATTTCTGCATTCATGGGATAAAGTATTCGTTCACCCAGCACTTGAAAAATAGGCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAATCAAGATTGCTGGCAGCTAGCTCTCTGCAACTCTCACATGGTCGCCCACTGAAGCTAAGCAGGGCTGCGCCCGATCAGAACCTGGATGGGAGACTACATGGAAAACCTAGGTTGCTGCCGGAAGTGGTGTTAGTGAGGCCAGCAGGGGGCGCCCAACCTGCGGTCTGTGTGGGTTCTAATGCCCCAGTATAGTGTCGGGGACGCTATACTGCTCAGTGAGTGCTGTCTTTTGGATGAGACGT
Associated Phenotype:
Not determined