LOC796404

Ensembl ID:
ENSDARG00000089038
Human Orthologue:
PLEKHG5
Human Description:
pleckstrin homology domain containing, family G (with RhoGef domain) member 5 [Source:HGNC Symbol;Ac
Mouse Orthologue:
Plekhg5
Mouse Description:
pleckstrin homology domain containing, family G (with RhoGef domain) member 5 Gene [Source:MGI Symbo

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa6750 Nonsense Mutation detected in F1 DNA During 2016
sa14396 Nonsense Available for shipment Available now
sa37771 Essential Splice Site Mutation detected in F1 DNA During 2016
sa24392 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa6750
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127492 Nonsense 229 1110 7 22
Genomic Location (Zv9):
Chromosome 23 (position 37761127)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 37738756
KASP Assay ID:
554-5348.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AACACTCCATTGTCTCTYGACTTCGAGGCRTTCCGTTTYGGTGGACGTTA[T/A]CTCAAAGTGAAAGGTGAGAATGTTATTACAGATTGTGRCATGGTTTGAAR
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14396
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127492 Nonsense 266 1110 8 22
Genomic Location (Zv9):
Chromosome 23 (position 37761672)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 37739301
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CGCTCGCTCAGCCTGCCCAACATCAAGCYGTCAGTAGGGGGCAGCGTCTA[C/A]ATCCTCACGCCRGCCACTGACAAACCAGAGCACAGTTCCCTGCCYCGCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37771
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 > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127492 Essential Splice Site 289 1110 8 22
Genomic Location (Zv9):
Chromosome 23 (position 37761743)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 37739372
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAAACCAGAGCACAGTTCCCTGCCCCGCAGAGACAGCGTCGACATACTGG[T/G]CAGTCATGCTGCTTTGTCTGTCTACACACACTCAAGCCTTTTACATCTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24392
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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000127492 Nonsense 627 1110 15 22
Genomic Location (Zv9):
Chromosome 23 (position 37797731)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 37775360
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCAGATGCGCCAGCGGCAGGAGCAGCAGAAACTGGCAGCCACTTCAGCT[C/T]GAGTCGAGTCATACGAGGCCGTGGAGGGAGCCAGTGAGGAGGTGGAGAAG
Associated Phenotype:
Not determined

GWAS

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

  • QT interval: Common variants at ten loci influence QT interval duration in the QTGEN Study. (View Study)

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

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