ZMP
brip1
Ensembl ID:
ZFIN ID:
Description:
BRCA1 interacting protein C-terminal helicase 1 [Source:RefSeq peptide;Acc:NP_001103766]
Human Orthologue:
BRIP1
Human Description:
BRCA1 interacting protein C-terminal helicase 1 [Source:HGNC Symbol;Acc:20473]
Mouse Orthologue:
Brip1
Mouse Description:
BRCA1 interacting protein C-terminal helicase 1 Gene [Source:MGI Symbol;Acc:MGI:2442836]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17274 | Essential Splice Site | Available for shipment | Available now |
sa22659 | Nonsense | Available for shipment | Available now |
sa35900 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17274
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109262 | Essential Splice Site | 178 | 1216 | 5 | 20 |
ENSDART00000112643 | Essential Splice Site | 178 | 1216 | 4 | 19 |
Genomic Location (Zv9):
Chromosome 15 (position 26863360)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 27581596 |
GRCz11 | 15 | 27514472 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTTAAGAATGACAGGAAGCGTATTCGTACACCAGGCACAGAGCAGAAGG[T/C]ACAGCAAYAAATATCTTCTATTTCTGYGACATTATTGGCTTGTTGAGTCT
Long Flanking Sequence:
AATAGCTTCAGACTGAAACTTTTGTTGTTAGATGAGTCAGAATGACAAACATGATAACGTGTTACATCACAAATATATTTGCTTTAGAGTATATGGATTGTGTTTTACATTACATTTCTTTAAATTGAGACTTTTTACACTTTGTGTCCTGTTACTGGGTTAGAGTCCAAGGCTTTATACTGATTTTTATTCACTACCCTTGTATAGATGTGAGCAAACCGTACCAATTTTTACAAAATCATATTGCGTGTCTGAAAAAGCAAGAAGGGTTTACTGCATTAGAATTACAGCAGTATGAGTTAATGCTGACATTTTGGGTTATTTATTATTCTCTTATGTATGCATCCTTGTTAAATTAGGCAAAAGTGACCAACATAAAAAGCCCAGTTTGTCCTCCCGTCTCTCTGAAAAACTTCAAGCCTCGCTTAACAATGGAGAGCATGATGATGATTTTAAGAATGACAGGAAGCGTATTCGTACACCAGGCACAGAGCAGAAGG[T/C]ACAGCAACAAATATCTTCTATTTCTGTGACATTATTGGCTTGTTGAGTCTTGTCTAAACCCTTTTTTCTTTTTTCTGCAGATCAGCAAGCGAAGATGTCTTGAGAAAGGAGTGATTTACATTGACGACGACGATGAAGAAGAGGAGAGTTTGGAGAGACCAGTGCCTGGGGCTCAGACTTGGACCATGGAATTGAACAACGGAGCCAGAGCTGACAGTTGCCAGTCGCAGCCGCAGTGTTGTGTGAGTGCACCACCTCAGACACATTTTCTACTCTTATCTCTAATTTGAAGAATATGATGTAATAAAGTGTCAAAATAGCCATGAAGTGCCCTGTTTGATGTTTCTCGGCATTGCATCATCCAATATCCGTTTAAAGGATTTTTCATCCAAAAATGAAACGTCTGGCATCATGAAGCCTCATGTAGTTCTAAAGCACTATGTTAGTGTTCTGTGGAACACAAGAACATATTGTGAACAATGTTAATACCCTGGCAGAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22659
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109262 | Nonsense | 419 | 1216 | 9 | 20 |
ENSDART00000112643 | Nonsense | 419 | 1216 | 8 | 19 |
Genomic Location (Zv9):
Chromosome 15 (position 26843341)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 27561577 |
GRCz11 | 15 | 27494453 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCGTTCCTCTGCCAGATGGAAATCAATTTGAAGGAGCAGATTGTGGTGT[T/A]GGACGAAGCTCATAACATCGAGGACTGTGCCCGTGAGAGTGCTAGTTTCA
Long Flanking Sequence:
ACAGTCGTTTTTTATGTTAGCAGAGTAGCTGCATATAATCAAAGTAAGATATTTGAAAAAAATTAGGTGATTTTCTACAAACGAAGCATGAGCATCTTTTTGTATCTTATTTGTATCTTATAAACACAATCAAGCCTTAAAATTACACTCTGACCACCCCTTTAAATATTACAATTAATATTACAATTACTTTCAATTTTAATATTTTTTGACAATATTGACATTTTACTACATGTGATATTATCAGATAACGTCAGTAGAAAGAAGAAAAATCCATATTCTTATCTCATTGCAGTGATAGAGATTGACTTGTAGAATGTCTTACTTTTGGACATAGTCCAACCTTGTTTTAAAGTATTTCGTTAAAGTCTTCAAATAAGATTAAAGACACATGGTAAGATGTTTTAAGGATTTTTATATAGTATGCTCCCATCTGTTGATAACTGTCGTGCCGTTCCTCTGCCAGATGGAAATCAATTTGAAGGAGCAGATTGTGGTGT[T/A]GGACGAAGCTCATAACATCGAGGACTGTGCCCGTGAGAGTGCTAGTTTCACCCTGAACCAAGCTCAGCTGTTGCTGGCACGTGATGAGATCGATGGAATGGTGACACACAACATTCGGCGTGATCAACACAGGCCTCTGTTGGCCTTCTGTTGCAGCCTCACCAAGTATGAACACTTTTTTTACTCAATGTTTTACATTGTATGAAGTGTGGCATTTATAATGTGATTTATCATAAATATTTCACGGATCAGCTTTCTCATGCCAATCTGAAATTAGTGTTTAATAGGGATTATTTTACTGTATAAATGACATGTGGTTAAAAGAATGGGCTGAATGTCTTGATAATAATTAATATGACATAAATCCTAGTTTAATGAGTGTTTTTATAACTTATTTTAAATGTGACCAAGGTATTTTTATCAGGCTTCTTTTATATGATAACAATTTTAGCATGTGGATATTTCTTCAAATAATTAGTTACTTAGAATTAAATAATAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35900
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109262 | Essential Splice Site | 785 | 1216 | 16 | 20 |
ENSDART00000112643 | Essential Splice Site | 785 | 1216 | 15 | 19 |
Genomic Location (Zv9):
Chromosome 15 (position 26818915)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 27537151 |
GRCz11 | 15 | 27470027 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTGTTTAAATGTATTGTCTCTGTGTGTTGAGTATGATATATTTTCATA[G/T]ATGGAGCGCTCCTGGTAGCTGTTTGCAGAGGGAAGGTGAGCGAGGGCTTG
Long Flanking Sequence:
TTTGCATTCCAGAATTTGGATTCCATTATGTTTGTTATTAAAAGCATCCCTATTTACCATGCTTGCATCTCCATAAATTACTGATGTATTAAATCATAATTAAAATAAAATCGATTTATAGATCTGGCTTGCTTATTTTTATAGACTAAATACTTTATCCTAATATATTTACTAATAAACGTTATATGCTAAAACATTTTCAGGTGGCTGCATTGCAAGTGATGTTTTAGTCTGTCAAATGTTTTTATTTGATAAGATGTTGGATAAACTGCGGGACCGATGGACGAACACGGGTCTGTGGGATAAGCTTGAGGAGTGCAAGACTGTGATTACCGAGCCCCGTGGTGGTGGCAAGGGTGACTTTGATGAGCTGTTGCAGACATACTATGAGGCAATTAGAGGAACGGCAGCCAAGGGTGAAAAAAGAGGTTAGTGTTGATTTGACACAATTGGTGTTTAAATGTATTGTCTCTGTGTGTTGAGTATGATATATTTTCATA[G/T]ATGGAGCGCTCCTGGTAGCTGTTTGCAGAGGGAAGGTGAGCGAGGGCTTGGACTTCACAGATGACAATGCCAGAGCTGTGGTTACCATTGGTATCCCGTTCCCTAATATTAAGGATTTGCAGGTAACAGGGCAGCAAAGTGGGACATTATGGCCATAACAAAAAACACAATTAATTTGCAAAAAACAGTAAACATTTAACTAAAAAAATCCAGTTGAGATGAAAGTATCTAAATGTTAAATATATCACACCTGTTTAATGATAAAATGTTACATTTTAAAAACAGTTGAACATGTTTTTAAAATGTTGTTCACACATTCATTGTTATACAACCCCTAATCAGAAAAGGTTGGGACAGTATGCAAAACTCAAATTAAAAACAAAGTAGTGATTTCCAAATTTAATTTGACTTATATTTTATTGCAGACAACATAAAATATTTCATGTTTTGTCTGGTCAACTTTATTTCTTTTGTTAATACATATTCTTTCCAGTCATTCA
Associated Phenotype:
Not determined