Busch Lab

ZMP

blm

Ensembl ID:
ENSDARG00000077089
ZFIN ID:
ZDB-GENE-070702-5
Human Orthologue:
BLM
Human Description:
Bloom syndrome, RecQ helicase-like [Source:HGNC Symbol;Acc:1058]
Mouse Orthologue:
Blm
Mouse Description:
Bloom syndrome, RecQ helicase-like Gene [Source:MGI Symbol;Acc:MGI:1328362]

Alleles

There are 8 alleles of this gene:

Allele Name Consequence Status Availability
sa23311 Nonsense Available for shipment Available now
hu3281 Nonsense Available for shipment Available now
sa16619 Nonsense Available for shipment Available now
sa15754 Nonsense Available for shipment Available now
sa13236 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa23311
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110746 Nonsense 335 1420 6 23
ENSDART00000142686 Nonsense 354 852 4 11

The following transcripts of ENSDARG00000077089 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 26218566)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26447559
GRCz11 18 26432077
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTAACAAAAAAGAATCTTCTCGATCTGCCTCAGGCCTGCCAGCACCCT[T/A]GGATCAATCTGCCAAAGGATTAAAAGGTATCATTCATTAATAAATTTGAA
Long Flanking Sequence:
AGAAATGGTTGATGTGTGTATGGCCTACAAGTCAAGTCATATTTATTTTGATAGGATTTTTAAAAGGTAGATTGTGACAAAGCGGTTTAACATGGATGAAGACAACTGAATGAAAAAGCATTCACACTATTTCAGATTGTAGAACATTCTAGCATGTCACAATGATACTAATAATAATCAGTTTTTGATTACAGTTGCTGAAAAAGATAAATGGGGTGAGCCAAATGTCATAGACAGTGATGACTGTGAGGAGAACAACCATTATGAAGGTTTTGAGGATTTCATCCCCCCGTCCCCTATTCCAGAAGAGATCAGTCTCTCTGTCTCAGATAAGGAGAAAAGGTGACCTTCTGTAAATAAATTAACAAATTAATTTATTATTTTTTTCTTTGGTTTTTAAGTTTATTTAACAGCTCTTTTATTTTGTAGTTCATCTGAGCCTGTTACTCCTGCTAACAAAAAAGAATCTTCTCGATCTGCCTCAGGCCTGCCAGCACCCT[T/A]GGATCAATCTGCCAAAGGATTAAAAGGTATCATTCATTAATAAATTTGAATAATTATCCTACTTTTTAGCATTCAACGAACAATTGTGTGAAACGCTGTATCTAAAATACATGTGTTGTCATTTAGGAGCTGATGACGCTCTCTTTAGTGTTATGGAATCTATCTGTTGTCTAGTGGACACTATTCCTGAGCATGAGCTCATAGCGCTGACCTGTGGGACTGAGCTTTTACTGCAGAGAGCACACAGGTAAAACAATTAAAGAGATAGTTTTCTGAGTGTATGTATGTATATATATATATATATATATATATATATATATATATATAATAAAATCTAAAAAAGTTTTACTACAATTTATTTTTTTGAATAAAGCTTGATATATATATATATATTTTTTTGTATTTTATTTAATGGGTCATAATTTTCTAGTCCACTTTGTTTCAAACCCTTAAAATTTTCTTTGTAATCTTTCTTTGAAAATTTTTACAGAGAGAACAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
hu3281
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110746 Nonsense 522 1420 8 23
ENSDART00000142686 Nonsense 541 852 6 11

The following transcripts of ENSDARG00000077089 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 26220090)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26449083
GRCz11 18 26433601
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACTCAAGGTTGTCCTTCAATGAGTCAAGCAATCAGACTGACCTGTTTTA[T/A]TCCCCCAAGAGAGTGGATTCAGGCAGCAGAAATGCTGACAGCAGTGTTGA
Long Flanking Sequence:
TTTCTACTTTTTAAAAATAATGCTAAATCCCCACAAAGCAGGTTAGCTTTATATAACATTACCACATGTCTTTGTCTTTACCACAGGAAAAGGATTCTTGCTAAAGGTGGGTCATCTAGAACATCTCATTCTGACTCAGTATCAACTCCTGGTTTCCTAAACAGACCTACGTTTGGAGTTACACCCTCCAATCTGACATCCCTGACCCCGGTAACTTCAGGAAAAAGAGAAGGTGTCAAAACTGGCTTTTCTTTTCGCAAATCCATTGCCTCTGTCATGTCTGTGGGTGATGAGAGTGTTTTTGAGGATTCTGACTGCATCATAAATGGAGTCGAAACACCTGGTGGTACCTGGAATCCTAACAGCTCCACTAAAATATCAGCTGGTAGGGATACCTTTAACGGGTCAATCCAAACTTTAAGCAAACCTGAGTCAAAGACAGATAAATGCTACTCAAGGTTGTCCTTCAATGAGTCAAGCAATCAGACTGACCTGTTTTA[T/A]TCCCCCAAGAGAGTGGATTCAGGCAGCAGAAATGCTGACAGCAGTGTTGAGATCAACATTGCAGGATCCAGCTCTTTACGAACAGGAGCAGAGCCAGTTGATGATTTTTTACTCGATGACTTCGATATTGATGATTTTGATGAGAATGATATTCCAGATTATTATGAAGAACCTCCAAGTGTCTTGGAATCAAGAAATAACTCTGGTGTAAAAACACCATCAGTACAGGAGGGAGGATCATCAAAATCTTTTGAGAGGAAGACATTCACACCACCAGCACCAAAGTCTATTAAAACTCCCAACCCAGGTAACTGTGTAATATATTATCTTTCGTCATTTTGTAACTTAAAGACCTCAAAAAGGACTTGATGTTCATTGTTCTAAAACATGTGTTTGCTTTGATCTGCAGAACCTTTGTACAGGAACCCAGCTCATGACCGCTTCAGAGGCTTTAACTTTCCTCATAGCCCAGAGATGATGAAGATCTTCCATAAGAAGTT
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:
sa16619
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110746 Nonsense 628 1420 9 23
ENSDART00000142686 Nonsense 647 852 7 11

The following transcripts of ENSDARG00000077089 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 26220510)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26449503
GRCz11 18 26434021
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTCATTGTTCTAAAACATGTGTTTGCTYTGATCTGCAGAACCTTTGTA[C/A]AGRAACCCAGCTCATGACCGMTTCAGAGGCTTTAACTTTCCTCATAGCCC
Long Flanking Sequence:
AGCAAACCTGAGTCAAAGACAGATAAATGCTACTCAAGGTTGTCCTTCAATGAGTCAAGCAATCAGACTGACCTGTTTTATTCCCCCAAGAGAGTGGATTCAGGCAGCAGAAATGCTGACAGCAGTGTTGAGATCAACATTGCAGGATCCAGCTCTTTACGAACAGGAGCAGAGCCAGTTGATGATTTTTTACTCGATGACTTCGATATTGATGATTTTGATGAGAATGATATTCCAGATTATTATGAAGAACCTCCAAGTGTCTTGGAATCAAGAAATAACTCTGGTGTAAAAACACCATCAGTACAGGAGGGAGGATCATCAAAATCTTTTGAGAGGAAGACATTCACACCACCAGCACCAAAGTCTATTAAAACTCCCAACCCAGGTAACTGTGTAATATATTATCTTTCGTCATTTTGTAACTTAAAGACCTCAAAAAGGACTTGATGTTCATTGTTCTAAAACATGTGTTTGCTTTGATCTGCAGAACCTTTGTA[C/A]AGGAACCCAGCTCATGACCGCTTCAGAGGCTTTAACTTTCCTCATAGCCCAGAGATGATGAAGATCTTCCATAAGAAGTTTGGACTTCATCAGTTCCGCTTTAACCAGCTGGAAGCTATTAATGCCTCGCTGTTAGGAGAAGACACATTTGTATTGATGCCTACAGGTTAGTATTATAGCAGCATTAATAAGGTAGATTTGAAATCCCAGTTTGTTGTGTGTTGACTACACATGCAGTTTATTTCTTGCAGGTCTACATATTTTACAGTATACTTTTTCATGTTAATAAAGCAATAATTATAAAATATAAACACACACTGTTCTATTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGTGTGTGTGTGTTAATAGATTTTTTTAAAATAAAAATATTAGATACATCATAATTGCACCAATGCACTTTGGTTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15754
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110746 Nonsense 1134 1420 19 23
ENSDART00000142686 None None 852 None 11

The following transcripts of ENSDARG00000077089 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 26231565)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26460468
GRCz11 18 26444976
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCAGACTGGGATGTTCGGAGTTGGAGCAGCTTATTCCAAACACAACGCT[G/T]AGAGGCTCTTTAAGAAGCTGGTGCTGGATAATGTTCTGATGGAGGATCTG
Long Flanking Sequence:
TGTATTTTAATGCATGAGATAACTCTGTAAGTGTGCACAGCTATTTTTTTTTAAACGAACACATTAATTGACTGTTTACTGTTGAACATGTTATTTTGAAATGTACCATTTTATTCCAGCTTCAGATACAAATGAAAATTTCATGCATCTTAATATTTGCCCTCAGAAATATAAATCCAGAAATGTGACCGATGACGTTAAGAAGATTGCGAGGTTTGTGCAGGACAACTGTGAGAAGGTTGGAAACAGATACGGCAAATCCGCCCAGCAGAACAGGCTCACTCTCAACATGCTGGTTGAAATATTTCTGGGTAAAAAAGTCTCACGGGATCCCACTGTCATAAATGATATAATGATATGAATATCCTTAGCTACATGCAGCGCTTGCAATTTAATGTCTGTCAGGAAAGTAAGAATATCTCTGTACGGCAGGCTCCAAAAGCGCTCGCATCCAGACTGGGATGTTCGGAGTTGGAGCAGCTTATTCCAAACACAACGCT[G/T]AGAGGCTCTTTAAGAAGCTGGTGCTGGATAATGTTCTGATGGAGGATCTGTACATCACTAACAGTGGCCAGGCTGTGGCCTATATCTCTGCAGGCCCTAAAGCTATGAGTGTACTGAATGGTTGCATGCAGGTGAGACTGTTACTATAGCACTACTGTACATTATTCTCTCTTGAGAAACTGCAAAATCTTAATTAATTTCTTTAACCCATTGCAGGTTGAATTTCATGAGACCGAGAGCGCATCCAGCATCAGAAAGCACAGAGCGTCTGTGTGTGAGAAGGTGTCTAAGAGAGAGGAGATGGTGAAAAAGTGTCTGGGTGAACTTAATGATCTATGCAAGAAGTTGGGCAAAGTCTTCGGCATTCATTACTACAATATCTTCTCCACCGCTACACTCAAAAAGATTGCTGGTAGGCCAATTTATTATTTGTTTATAATGATAGAAAATTTATATGTAGGGAATATACTTAATTATTTTTTTAATATATGGGTCAAAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13236
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110746 Essential Splice Site 1178 1420 20 23
ENSDART00000142686 None None 852 None 11

The following transcripts of ENSDARG00000077089 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 26231781)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26460684
GRCz11 18 26445192
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCTCTCTTGAGAAACTGCAAAATCTTAATTAATTTCTTTAACCCATTGCA[G/T]GTTGAATTYCATGAGACCGARAGCGCATCCAGCATYAGAAAGCACAGAGC
Long Flanking Sequence:
TGTGCAGGACAACTGTGAGAAGGTTGGAAACAGATACGGCAAATCCGCCCAGCAGAACAGGCTCACTCTCAACATGCTGGTTGAAATATTTCTGGGTAAAAAAGTCTCACGGGATCCCACTGTCATAAATGATATAATGATATGAATATCCTTAGCTACATGCAGCGCTTGCAATTTAATGTCTGTCAGGAAAGTAAGAATATCTCTGTACGGCAGGCTCCAAAAGCGCTCGCATCCAGACTGGGATGTTCGGAGTTGGAGCAGCTTATTCCAAACACAACGCTGAGAGGCTCTTTAAGAAGCTGGTGCTGGATAATGTTCTGATGGAGGATCTGTACATCACTAACAGTGGCCAGGCTGTGGCCTATATCTCTGCAGGCCCTAAAGCTATGAGTGTACTGAATGGTTGCATGCAGGTGAGACTGTTACTATAGCACTACTGTACATTATTCTCTCTTGAGAAACTGCAAAATCTTAATTAATTTCTTTAACCCATTGCA[G/T]GTTGAATTTCATGAGACCGAGAGCGCATCCAGCATCAGAAAGCACAGAGCGTCTGTGTGTGAGAAGGTGTCTAAGAGAGAGGAGATGGTGAAAAAGTGTCTGGGTGAACTTAATGATCTATGCAAGAAGTTGGGCAAAGTCTTCGGCATTCATTACTACAATATCTTCTCCACCGCTACACTCAAAAAGATTGCTGGTAGGCCAATTTATTATTTGTTTATAATGATAGAAAATTTATATGTAGGGAATATACTTAATTATTTTTTTAATATATGGGTCAAAGATGGGATGGTTACTAGGCAGTATCGGGTATCGGATCGATACTTGGCTAAAATACTCCATATTGTACATGTTGGGCTGGACAATAATTCGATAATAATACATATCGCGAAAGATTTTTTTCAATAACGGTGATATGATTTTAAAACACATTTCCGGTATTTCGATATACATTTGCATACATATGTTTTATTATATATGTAAGATCTTATACTTTTCAT
Associated Phenotype:
Not determined