Busch Lab

ZMP

PBRM1 (1 of 2)

Ensembl ID:
ENSDARG00000003877
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
sa27716 Nonsense Mutation detected in F1 DNA Not yet available
sa35009 Nonsense Available for shipment Available now
sa41765 Essential Splice Site Mutation detected in F1 DNA Not yet available
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:
sa27716
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:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000045971 Nonsense 107 1559 3 28
Genomic Location (Zv9):
Chromosome 11 (position 4013602)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 3932106
GRCz11 11 3951493
KASP Assay ID:
2260-3860.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCCCATTGATATGATGAAGATCCAGCAGAAGCTGAAGATGGAGGAGTA[T/G]GACGATGTTGAGCAGCTCACAAGCGACTTTCAGCTCTTATTCAGTAATGC
Long Flanking Sequence:
TGGTTCAAAATGTGAAAATAAACCTGCACTCCTATGAAAATATCAAGAAATCAGGCCCTACACACCTTGCACCTTATTGCCCACTGTGTTTATTTAAATTTAGCCTATATCAATTGTTTGCAACCACTTACCCTAAAGAAATGTAGTAAATCCAATTAATCACTTTCTTTTTAGTGTATGCAGATTAGCCCATAATCTTCTATTTACAAGACTCCTAATTTTGTTGTGAATGTTATACAATAGGTTCAAATCTACCAAGGACAAAAACAAAAAACAATATTCTTATAATATACACAGCATTACTCTTTAGCAGTCACTCCAGGCTGTTTCGGAAAACATACATAGCACATTTATATGTTTAAATGTGAAATATTAAAGGATTCAAATTTATTACAAATTTACTAATTTTCTCCCCACAGGAATCAGCCAGATTACTATGACGTGGTGTCACAGCCCATTGATATGATGAAGATCCAGCAGAAGCTGAAGATGGAGGAGTA[T/G]GACGATGTTGAGCAGCTCACAAGCGACTTTCAGCTCTTATTCAGTAATGCCAAGACATACTACAAAGTAAATATCACTATCTTACACTACCATTCAAAGGTTTGGAGTTAGTACAAGTCTCTTTATGCTCGCCAAGGCTAATTCGGTAACACTTTTACTGTTTTTTTTTTTTGCTTTGTTTGTCAAAGTTGCAGTCAAAGGTAGAAAAGGTTGGGACAGTATGGAAAACGCAAATAAAAAAAAGAAAGTAGTGATTTCTAAATTAACTTTGACTTGTATTTCATTACAGACAATACAACAAACATTATTTAATGTGCTCCTCATGATAACAAACACATATTCCAATTTTGATTCTTGCAACACATTTAAACAAGTTGGAGTAGTGAAGCATTTATCACTTTGTAACGTTGCCATTCCTTTTCACAACACTTAAAGCATTTAGGGATTGAAGACAGAAAGTGCAGAAGTGTTTCAGGTGTAATTTTTTTCCACTCTTTCTG
Associated Phenotype:
Not determined

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.
Availability:
Order Allele From ZIRC
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:
sa41765
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000045971 Essential Splice Site 238 1559 6 28
Genomic Location (Zv9):
Chromosome 11 (position 4007067)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 3925571
GRCz11 11 3944958
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTATTAAAGAACCAATCGATCTGAAGAGCATCGCACACCGAATACAGG[T/A]ATTATGATCACATTATTTTACATAATTATATAGAGTATCACTGATCTACA
Long Flanking Sequence:
GCATGGCTCAATATCTAAAAGAAAGCATTCAGAAATTGATTTAAAAATTGATGCCCAAAAAGTGCTTAGCGCTGGACAAAGCCAGAAAGTATGAAGAAGAGTGGCTGGAGCTTGTCGACACCGATCACAAGTTGGATCAAAACCAGGGTTAATTTTAGATATTTTTGCCTTAGTCCAATATACTCTATGCAATAATTTGAATTGTATAAGGGAATGACGAGCACAAATAGAAGAGGTTTGTACACGAGACAGAGCCTTGAACCATTCCTCGTCTGTGAAAACATGATTGAGATCTGATTCCCAGCTCTGCTTTATTTTTAAAAAGGATGAGGAATCTAACTGTCTAATAAATGAAAAAATTGTTTTATAAATTTTAGAGACTGCACCTTTATTAATATTATATCTTAATAAATATTCACTCTTTTTCCAGCAATATCCAGATTATTATGCTATTATTAAAGAACCAATCGATCTGAAGAGCATCGCACACCGAATACAGG[T/A]ATTATGATCACATTATTTTACATAATTATATAGAGTATCACTGATCTACACTAAATTTATGTTTTGCTTTCCCTAGATGTGCTACTATAAAAGTGTAAACCATATGGCTAAAGACATTGACTTGTTAGTCAAAAATGCCAAAACCTACAATGAACCCGGATCACAAGTGTTTAAAGTAATGTATCACTGACATTTCTATATACGATTTATATAATGATTAGACTTTCACAGTTAAGCTTAGTTGTAATTTATATAATGCAAAATGTGGTCTGCTTATAAGTATAATTTAATCATGAATTTCCAGGATGCGAACACAATCAAGAAGGTCTTTGCGCAGAAAAAACTGGAGCTCGAACATTCTGAACCTATTAAATGCAGCATCAGGATCAGGTAAGTGTTATGAAGCATGTTTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATA
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
Availability:
Order Allele From ZIRC
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.
Availability:
Order Allele From ZIRC
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.
Availability:
Order Allele From ZIRC
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