ZMP
PBRM1 (1 of 2)
Ensembl ID:
Description:
polybromo 1 [Source:HGNC Symbol;Acc:30064]
Human Orthologue:
PBRM1
Human Description:
polybromo 1 [Source:HGNC Symbol;Acc:30064]
Mouse Orthologue:
Pbrm1
Mouse Description:
polybromo 1 Gene [Source:MGI Symbol;Acc:MGI:1923998]
Alleles
There are 8 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa35009 | Nonsense | Available for shipment | Available now |
| sa17189 | Essential Splice Site | Available for shipment | Available now |
| sa31812 | Essential Splice Site | Available for shipment | Available now |
| sa970 | Nonsense | Available for shipment | Available now |
| sa31811 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa35009
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000045971 | Nonsense | 154 | 1559 | 4 | 28 |
Genomic Location (Zv9):
Chromosome 11 (position 4008638)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 3927142 |
| GRCz11 | 11 | 3946529 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCTTGTAAACTGTGGGATCTGTATATTCGGACCAAAAACGAGTTTGTG[C/T]AGCGAGGAGACTATGATGAAGATGATGATGATGACGACCCACAGGAGAAC
Long Flanking Sequence:
GATAAGTTGGCGGTTCATTGCTCTGTGGCAACCCCGGATTAATAAAGGGACTAAGCCGACAAGAAAATGAATGAATGAATTATTTTGTGATACTAAAGACACCAGCGCTATCACAGGTCTTTTTAAAGAAAAAAAATATCACCACCTCACTTTCATACCTGTATTTTTGATCAAATCAATAGATAAATCAAAATAAATTTCATTTGGTGAGCAAAAGGGATGAAAAACATAGTTAGCTTGTAAACTACATGTATGTTTTGTTTTAATTATTGTACCACTTAATTATCTAATATTGTACTATGAGGATATGAGATTGAAATATTGTTGTTTATAGTATGATTTGTGATGTTCCTTTTTTAGATATCTACAAAATAAATAAATATCAGTTAAAATAAAACCTGAAACCTCTTTTTTGTGTTGTTGTGCAGCCTGAAACTCCAGAATACAGAGCAGCTTGTAAACTGTGGGATCTGTATATTCGGACCAAAAACGAGTTTGTG[C/T]AGCGAGGAGACTATGATGAAGATGATGATGATGACGACCCACAGGAGAACCTCGGAGGAGCCACAGAGGAGGAGGTCAGACCACATACACATCTACTTAGTCAAACACTGCACATCAAATTTATGGGTTAGACTTCTGGTGTGAGGAAAATAATGACACCTCATTGTACACGGTTTTTAAAACAAAGAAAAATGAGGACACAAATGTGATTAATATGTGGCTTTGCGTTTACAGTCTATGTCGAGCCTTAAGGAAGTTCTTGGGATGCTTCTGGATGCTGTGTTGACCTACACTGAACACGGCCGCCTTATTAGCGAACTTTTCCAGAGACTTCCCTCTAAAATGGTAGCTTTTCAGTTTCATATATGGACATACACAAACATATTAATATTATATCTTTAGTTTAACTCTGTTTTTATTGAAATATGTTAGTCAGAGAGCCACAGCATCAGATACACAGAATCATTAGACATCAACTGATCCAATGTGGTGGTAGAGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17189
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 |
|---|---|---|---|---|---|
| ENSDART00000045971 | Essential Splice Site | 403 | 1559 | 11 | 28 |
Genomic Location (Zv9):
Chromosome 11 (position 4001489)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 3919993 |
| GRCz11 | 11 | 3939380 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAGAATAAGCCTGGGTTGACTGTATGATGACTGACTTGTTTTTTTCWCCA[G/A]GAGTAAGATGAAGAATAATGAGTATGAAAGTGTGGAGCAGATCGACACAG
Long Flanking Sequence:
AGGGAAGTGGGTGTTCGGGTCAATCGGTGCTTTGGAAAACACTATCAGTTGGGTTTAGGGAAGTGGGTGGGCGGGTCAATCTGGGCTTTTGAAAACACTATCGGTTGGGTTTAGGGTAGTGGGTGGGCGAGTTAATCTGTGCTTTTGAAAACACCATCGATTGGGTTTAGGAAAGTGGGTGGACGGGTCAATCGGTGCTTTTGAAAACACTATCGGTTGGGTTTAGGGAAGGAGAAGGGTGGGCCAGTCAATCTGTTAGTCAGTCATTTAGCAACCTCTGGTGAATTTACGCAAGAACAGCAGGTGATTGGTACGCGCGAGAGAAATTTGAAATCTCAAAAAGGGTACACATCAGCCTCTGGTGGATTCATGAAAACAAAAACTGCAAAAAAAAACGTAGCTCCTGGGACGTATTTGGTGCTCTCCAGAAATGTGTATAGTGGTACGTTTCAGAATAAGCCTGGGTTGACTGTATGATGACTGACTTGTTTTTTTCTCCA[G/A]GAGTAAGATGAAGAATAATGAGTATGAAAGTGTGGAGCAGATCGACACAGACCTGAACCGGATGTTTGAGAACGCCAAGCGCTACAACGTTCCCAGTTCTCAAATCTACAAACGTGTGCTGAAGCTGCAGCACATATTGCAGGTAAAATAAATACCTGCTTATAAAGGATTGTGAACGTGGTATCTCTTCACTGAACAGTAAATGATGATTACATACAAGTCATAATTATTAGCCCCCCTGTATATTTTTACCCTAATTTCTGTTTAATGGAAAGAAGAATTGTTTTCAACACATTTCTAAGCATAATAGTTTTAATAACTCATTACTAATAACCGATTTCTTTTATCTTTGCCTTGATGACAGCACAAAATATTTGACTAGATATTTAGTATTCAGCTTAAAGTGACATTTAAAGGCTGAAAATTCAATCAATGCTTGACATTGTATCAAGCCATCGTGTCTTTTCTTTGTTTGTGTGTATGTGTGTTCAGATGAAGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31812
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 |
|---|---|---|---|---|---|
| ENSDART00000045971 | Essential Splice Site | 895 | 1559 | 17 | 28 |
Genomic Location (Zv9):
Chromosome 11 (position 3991269)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 3909773 |
| GRCz11 | 11 | 3929160 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAATGTGTTGTGGTGCAGATGCCTGTTGATTATCAATGATTTGACCTGCA[G/A]AGGCAGAAAAGAGCGAGGACACGGCGGGCGGAGGATGGCAGGGAGCCCTG
Long Flanking Sequence:
TCACTTCATGACCCCTTTAAAGTCTAAAGGAGTATAACGGCGTTTAAAGCAGTTTTTGTTTTTAAGTGGTCATTAAATGAATAGCTAACCTAAAACAAAAAATGTTGTCATCATTTACTTGTCGTGAACATGTTTGAGTTTTATGTAACACAAAAGAAGATGTTATGAAAAATGTTGGAAAGCTGTAACCATTGACTTCCATTGTATTTGTTTCTCCTACTATGGAAGTTATTGATTTGAGGTTCCTATCATTTTTCATAATATCTTCTCTTGTGTCCAACAATCTCGTAGAAATTTGAAATCACTTGAGGGTGAGTAAATATGGAGTAAATTAGAATTTTTAGGTGAACCGTCACTTTAATACTAGTGCAATATGCAATTACATTATAGGTTACACCCTTTGATAGTCTGTAACTTTGATTAAATTTAAACTCTGAAATAAAGTTGTTATAATGTGTTGTGGTGCAGATGCCTGTTGATTATCAATGATTTGACCTGCA[G/A]AGGCAGAAAAGAGCGAGGACACGGCGGGCGGAGGATGGCAGGGAGCCCTGCAGCGCAACTACAGCCAGGACTGCAGCTTTAAGGACAACATGTACCATGTGGGTGACTATGTGTATGTGGAGCCCACCGAACCGAACCTGCAGCCACACATCGTCTGCATAGAGCGCCTCTGGCAGGACGATGCAGGTACTACATTTACAGAAAGTGCAGTTGCTAATTTATTCTGTTTAAAGTTTACATGAAGTGAAAGCTGAGACTGTTTGTTTTCGTATTGTCATGCAGTTCCTAGAGAAAGAGAATATTAAATGGGAAAACAGTGGGCGTGGCTTGTTTTTTCAACTGCGAGCTGATTGGATGGGGTAAAGTAGGCATTTCATTCAGGAAGATGTGTGAAATGGTTTGGGGAGGGTTAATACAACCTAACAGACTCCTCCTGCTCACAATTACTGTCAAAACTGATATCTGGAGGGGCGTGGTTGAGTATGTTAGCCACACCCAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa970
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000045971 | Nonsense | 1232 | 1559 | 22 | 28 |
Genomic Location (Zv9):
Chromosome 11 (position 3985128)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 3903632 |
| GRCz11 | 11 | 3923019 |
KASP Assay ID:
554-0875.1 (used for ordering genotyping assays)
KASP Sequence:
CGGAGGAGGACGTGTTGCTGTGTGAGAGCCGCTACATCGAGAGCGAGAAG[C/T]AAATGAAGAAGTTTAAAGGGCTGAAGCGTTTCTCTYTGTCCGCCAAAGTA
Long Flanking Sequence:
AAATAAACAAGTATGTTTACGTACCATTTTTCTCAACTACCTGCAGACTTATTATGGTATTTTTATGTTTTAGAGCAGTCAAAAACATACATACAGCACCTTTAAAAGCGCATAGTGTGAATTAATTCAGGGCACAAATGTTTCAGTACACTGGAAGATTCTCGAGATGGCTGATGCCCTGTTCAATGCACTGACTACTAAACAAATAGATGATTGACCTTTCAAATGTACGCACATTTCCATCAAGATAATACACATTAAAATATGTAAATGAAAACCTAGCTACTGACTGAAGGAAATTGACTCTAAACTCGGTTATTGACAATGAAAGAACTACTATTACATGAAGTGATTTGTTCAGATCTTTTGTGGACTGCTCTTCCTTTTCCTCAGGGAAGTGTACAGTGTCTTCTTTCAAAGATTTCCTGTCATGCCGGCCGACTGAGATGCCGGAGGAGGACGTGTTGCTGTGTGAGAGCCGCTACATCGAGAGCGAGAAG[C/T]AAATGAAGAAGTTTAAAGGGCTGAAGCGTTTCTCTCTGTCCGCCAAAGTAGTGGAAGATGAAATCTATTACTTCAGGTCTGTCAACCTGGTCTATCTACTACTAAACGACTCATCTAAAGAAAAAAAAAATTGTATACAGCGGGGAAAATAAGTATTGATAAGTGTTGACACAGCCATGTGACAGCTGCTGCGCTCGTGCATCCAGGTTAATCATGAACAACTCAGTGCGCATGCGTTAGTTGCACTATTGCGGTCTGATTATGTTTCAATCAAGGTTTATATGCATCAAATGCATAACATCTGTGCCAAACATTTCAACTGACGAACATATTAACAATAATACAACCGTATAGCCGAATTAAATGTATGCATTGGCATGTTACAGCCCTAATGAGTATGATTATGTGAAACTCCATGTAGATAGATATTGCAATGATTTCGGGTACTTACTTAGCGATGCACGCACACATAACGTTAGATGCACAATCCTTAAATGCTC
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa31811
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000045971 | Essential Splice Site | 1257 | 1559 | 22 | 28 |
Genomic Location (Zv9):
Chromosome 11 (position 3985050)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 3903554 |
| GRCz11 | 11 | 3922941 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTCTCTCTGTCCGCCAAAGTAGTGGAAGATGAAATCTATTACTTCAGG[T/G]CTGTCAACCTGGTCTATCTACTACTAAACGACTCATCTAAAGAAAAAAAA
Long Flanking Sequence:
TCAAAAACATACATACAGCACCTTTAAAAGCGCATAGTGTGAATTAATTCAGGGCACAAATGTTTCAGTACACTGGAAGATTCTCGAGATGGCTGATGCCCTGTTCAATGCACTGACTACTAAACAAATAGATGATTGACCTTTCAAATGTACGCACATTTCCATCAAGATAATACACATTAAAATATGTAAATGAAAACCTAGCTACTGACTGAAGGAAATTGACTCTAAACTCGGTTATTGACAATGAAAGAACTACTATTACATGAAGTGATTTGTTCAGATCTTTTGTGGACTGCTCTTCCTTTTCCTCAGGGAAGTGTACAGTGTCTTCTTTCAAAGATTTCCTGTCATGCCGGCCGACTGAGATGCCGGAGGAGGACGTGTTGCTGTGTGAGAGCCGCTACATCGAGAGCGAGAAGCAAATGAAGAAGTTTAAAGGGCTGAAGCGTTTCTCTCTGTCCGCCAAAGTAGTGGAAGATGAAATCTATTACTTCAGG[T/G]CTGTCAACCTGGTCTATCTACTACTAAACGACTCATCTAAAGAAAAAAAAAATTGTATACAGCGGGGAAAATAAGTATTGATAAGTGTTGACACAGCCATGTGACAGCTGCTGCGCTCGTGCATCCAGGTTAATCATGAACAACTCAGTGCGCATGCGTTAGTTGCACTATTGCGGTCTGATTATGTTTCAATCAAGGTTTATATGCATCAAATGCATAACATCTGTGCCAAACATTTCAACTGACGAACATATTAACAATAATACAACCGTATAGCCGAATTAAATGTATGCATTGGCATGTTACAGCCCTAATGAGTATGATTATGTGAAACTCCATGTAGATAGATATTGCAATGATTTCGGGTACTTACTTAGCGATGCACGCACACATAACGTTAGATGCACAATCCTTAAATGCTCTGCTGATTTGGACTCTATAATACCTTTTTTATAACTTTAAACTATCAACAACCACTACTATCTTCCCGCTCCGTGGTG
Associated Phenotype:
Not determined