si:dkeyp-122a9.3

Ensembl ID:
ENSDARG00000094171
ZFIN ID:
ZDB-GENE-060503-840
Description:
Novel protein similar to vertebrate low density lipoprotein-related protein 1B (Deleted in tumors) (
Human Orthologue:
LRP1B
Human Description:
low density lipoprotein receptor-related protein 1B [Source:HGNC Symbol;Acc:6693]
Mouse Orthologue:
Lrp1b
Mouse Description:
low density lipoprotein-related protein 1B (deleted in tumors) Gene [Source:MGI Symbol;Acc:MGI:21511

Alleles

There are 9 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa753 Essential Splice Site Available for shipment Available now
sa45763 Essential Splice Site Mutation detected in F1 DNA During 2018
sa1481 Nonsense Available for shipment Available now
sa13305 Nonsense Available for shipment Available now
sa10588 Nonsense Available for shipment Available now
sa37466 Essential Splice Site Mutation detected in F1 DNA During 2018
sa17465 Essential Splice Site Available for shipment Available now
sa12543 Nonsense Available for shipment Available now
sa19282 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa753
Current 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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000135768 Essential Splice Site 259 1629 5 35

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 14604112)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14435019
GRCz11 22 14459594
KASP Assay ID:
554-0660.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAGAACCATATCTTATTTGCAAATATAGACGGTACCAAAAGACACAAAGG[T/C]AAGTGCTTTCTTATCTCAAATCTAAGTCTTGATTAAAATTGACATTAACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45763
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000135768 Essential Splice Site 338 1629 6 35
Genomic Location (Zv9):
Chromosome 22 (position 14603802)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14434709
GRCz11 22 14459284
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTATTACAGCGGGAAGCTTCTTGGATAAGTCTACAGTTGACTGTTTGGG[T/C]TAGAGTCAAGACTCCCATGTTGATCCAGGATTGTTTTTGATTTGTTTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1481
Current 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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000135768 Nonsense 460 1629 10 35

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 14598984)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14429891
GRCz11 22 14454466
KASP Assay ID:
554-1406.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGATATATAGTGCAGTGATGTCCTTGTTTGCATTTGCTTTCAGACTCATA[T/G]ATCTGCCTGTCGGGTCAGTTTAAGTGCACACACCGGCAGAAGTGCATCCC
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:
sa13305
Current 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
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Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000135768 Nonsense 692 1629 15 35

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 14566981)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14397888
GRCz11 22 14422463
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGAGGAGGCTGTGTTTTGGCTGCTCAGCGCTGCGATGGACAGAACGACTG[C/A]GCAGATGGGTCAGATGAGGTCAGTTYAGTTCATAMACACTGAAWAATACM
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10588
Current 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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000135768 Nonsense 902 1629 20 35

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 14552620)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14383527
GRCz11 22 14408102
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCTCCGTCTGCCAGTGCAAAGAAGGCTTTCAGAGGAACCAKAAGAACAGG[C/T]AATGTGAAGGTGGGAAACTGTATATTACTGCAATATAAAGTTGCACTCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37466
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000135768 Essential Splice Site 1135 1629 24 35

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 14546528)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14377435
GRCz11 22 14402010
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGGGTCGATGCGTCGTGTTTTGATCACAAGGAATTTGCGGAGACCGACAG[G/A]TGAAGATGTGACACTCCACTGTGTTTTTCTGACATAAAATATGTAACTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17465
Current 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:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000135768 Essential Splice Site 1175 1629 None 35

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 14543229)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14374136
GRCz11 22 14398711
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCRAATGAACGACGGAAAMAGTTTAGTCTGGGTCTGGTTTGCTTTCTTTC[A/T]GGCATCTCTCAGCCCTTCCGYATCGACCTGTTTGAGGACTACATYTACGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12543
Current 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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000135768 Nonsense 1293 1629 28 35
ENSDART00000135768 Nonsense 1293 1629 28 35

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 14534644)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14365551
GRCz11 22 14390126
KASP Assay ID:
2261-6565.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCTGTGTCGTCCTGCCTGTGAGAMTGGAGGTCGRTGTATCACTAATGAA[C/T]GAGGGGAATCCCGCTGTTTTTGTTGGCCAAATTACTCTGGTGAACGCTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19282
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000135768 Nonsense 1293 1629 28 35
ENSDART00000135768 Nonsense 1293 1629 28 35

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 14534644)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14365551
GRCz11 22 14390126
KASP Assay ID:
2261-6565.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATCTGTGTCGTCCTGCCTGTGAGAATGGAGGTCGGTGTATCACTAATGAA[C/T]GAGGGGAATCCCGCTGTTTTTGTTGGCCAAATTACTCTGGTGAACGCTGT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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