gnav1

Ensembl ID:
ENSDARG00000043006
ZFIN ID:
ZDB-GENE-081031-92
Description:
Guanine nucleotide binding protein alpha subunit v1 subtypeNovel protein similar to vertebrate guani
Human Orthologues:
GNA11, GNA14, GNA15, GNAQ
Human Descriptions:
guanine nucleotide binding protein (G protein), alpha 11 (Gq class) [Source:HGNC Symbol;Acc:4379]
guanine nucleotide binding protein (G protein), alpha 14 [Source:HGNC Symbol;Acc:4382]
guanine nucleotide binding protein (G protein), alpha 15 (Gq class) [Source:HGNC Symbol;Acc:4383]
guanine nucleotide binding protein (G protein), q polypeptide [Source:HGNC Symbol;Acc:4390]
Mouse Orthologues:
Gna11, Gna14, Gna15, Gnaq
Mouse Descriptions:
guanine nucleotide binding protein, alpha 11 Gene [Source:MGI Symbol;Acc:MGI:95766]
guanine nucleotide binding protein, alpha 14 Gene [Source:MGI Symbol;Acc:MGI:95769]
guanine nucleotide binding protein, alpha 15 Gene [Source:MGI Symbol;Acc:MGI:95770]
guanine nucleotide binding protein, alpha q polypeptide Gene [Source:MGI Symbol;Acc:MGI:95776]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa14474 Essential Splice Site Available for shipment Available now
sa39362 Essential Splice Site Mutation detected in F1 DNA During 2016
sa24095 Nonsense Mutation detected in F1 DNA During 2016
sa39361 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa14474
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
ENSDART00000063143 Essential Splice Site 106 362 3 9
ENSDART00000137537 Essential Splice Site 107 363 3 9
Genomic Location:
Chromosome 22 (position 11690148)
KASP Assay ID:
2261-6500.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCATGGGATGGGTGTCCTTCGCATCAACCTCGCCAACCCAAAAAACAAGG[T/A]CTGTTGCTKTCTTCACTACACTTTACAGACACAATATGTRCTTNTTTTTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39362
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
ENSDART00000063143 Essential Splice Site 246 362 6 9
ENSDART00000137537 Essential Splice Site 247 363 6 9
Genomic Location:
Chromosome 22 (position 11659940)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTCTCTCTGAGTGGATACGACATGACGCTGGTAGAGGATCCATCTATGG[T/C]GAGGAAACACTTTTGTGTCCATGAAAAAAAGGCCTCAAGAGCCCAAAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24095
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000063143 Nonsense 260 362 7 9
ENSDART00000137537 Nonsense 261 363 7 9
Genomic Location:
Chromosome 22 (position 11657609)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTTGTTCAGAATCGCCTGCAGGAGAGTCTCAAGCTCTTCTCTTCAATCTG[C/A]AACAACATCTTCTTCAGGGGCACCTCCATGGTAAGAGACGAGTCTATTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39361
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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000063143 Nonsense 282 362 8 9
ENSDART00000137537 Nonsense 283 363 8 9
Genomic Location:
Chromosome 22 (position 11652392)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTATTTTTTTTTTGCAGATTTTATTCATGAATAAGATTGATCTTTTCCAA[G/T]AGAAGATCCTCCACTCGGGGCGTCATCTGCGCCATTACCTTCCCCAGTTC
Associated Phenotype:
Not determined

GWAS

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

  • Heart failure: Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. (View Study)

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

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