hdlbp

Ensembl ID:
ENSDARG00000009830
ZFIN ID:
ZDB-GENE-030131-2032
Description:
vigilin [Source:RefSeq peptide;Acc:NP_958882]
Human Orthologue:
HDLBP
Human Description:
high density lipoprotein binding protein [Source:HGNC Symbol;Acc:4857]
Mouse Orthologues:
4921511C20Rik, Gm382, Hdlbp
Mouse Descriptions:
high density lipoprotein (HDL) binding protein Gene [Source:MGI Symbol;Acc:MGI:99256]
predicted gene 382 Gene [Source:MGI Symbol;Acc:MGI:2685228]
RIKEN cDNA 4921511C20 gene Gene [Source:MGI Symbol;Acc:MGI:2685229]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa33870 Essential Splice Site Mutation detected in F1 DNA During 2016
sa7582 Missense Mutation detected in F1 DNA During 2016
sa18003 Nonsense Available for shipment Available now
sa40694 Essential Splice Site Mutation detected in F1 DNA During 2016
sa14220 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa33870
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 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011863 Essential Splice Site 399 1272 9 28
ENSDART00000055771 Essential Splice Site 399 1285 7 27
ENSDART00000121511 Essential Splice Site 399 690 9 18
ENSDART00000134259 Essential Splice Site 399 433 9 10

The following transcripts of ENSDARG00000009830 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 6 (position 26597527)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 26898738
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTGGCAAGAAAGGACAGAATCTGGCTAAGATCACACAGCAAATGCCCAAG[G/A]CGAGTCAACTTTCCATTAATCATGTTGGAGTGCTTGGTTTCTCCATTGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7582
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 2016.
Mutation:
C > A
Consequence:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011863 Missense 694 1272 17 28
ENSDART00000055771 Missense 697 1285 15 27
ENSDART00000121511   None 690 None 18
ENSDART00000134259   None 433 None 10

The following transcripts of ENSDARG00000009830 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 6 (position 26592061)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 26893272
KASP Assay ID:
554-4106.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTCGTGCGTTCCATTATGGAGGAGTGTGGCGGTGTGCACATCCATTTCC[C/A]AACAGAGGGCTCTGGCATCGATGCAGTGACAATCAGAGGCCCAGCGGAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18003
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011863 Nonsense 790 1272 18 28
ENSDART00000055771 Nonsense 793 1285 16 27
ENSDART00000121511   None 690 None 18
ENSDART00000134259   None 433 None 10

The following transcripts of ENSDARG00000009830 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 6 (position 26591570)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 26892781
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCATGAGCTGATCACAGTCATCGGTACAGAGGAAGCTGTCGCAGAAGCA[C/T]AAAAGGAGCTGGAGGCACTTATTAAGAGCTTGGTTAGTGGTTTTGWTGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40694
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 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011863 Essential Splice Site 800 1272 18 28
ENSDART00000055771 Essential Splice Site 803 1285 16 27
ENSDART00000121511   None 690 None 18
ENSDART00000134259   None 433 None 10

The following transcripts of ENSDARG00000009830 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 6 (position 26591536)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 26892747
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGCTGTCGCAGAAGCACAAAAGGAGCTGGAGGCACTTATTAAGAGCTTGG[T/C]TAGTGGTTTTGATGAAGGAATATCTGAATATCTTCTAAATGGGATATGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14220
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000011863 Essential Splice Site 1241 1272 27 28
ENSDART00000055771 Essential Splice Site 1254 1285 26 27
ENSDART00000121511   None 690 None 18
ENSDART00000134259   None 433 None 10

The following transcripts of ENSDARG00000009830 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 6 (position 26585345)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 26886556
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAAGGGCTTTGTTGTGCGGGAGGCTCCTTGGRCTACTGGCAACGAAAAGG[T/A]AAACTAATGTTTTGAGTGTSAAYTATTTATTGTGAAATTAAAAAGCAGGT
Associated Phenotype:
Not determined

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