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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch211-215m13.2
- Ensembl ID:
- ENSDARG00000086056
- ZFIN ID:
- ZDB-GENE-030131-2517
- Human Orthologue:
- PLEKHG6
- Human Description:
- pleckstrin homology domain containing, family G (with RhoGef domain) member 6 [Source:HGNC Symbol;Ac
- Mouse Orthologue:
- Plekhg6
- Mouse Description:
- pleckstrin homology domain containing, family G (with RhoGef domain) member 6 Gene [Source:MGI Symbo
Alleles
There are 5 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa36087 | Essential Splice Site | Available for shipment | Available now |
| sa36086 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
| sa11583 | Essential Splice Site | Available for shipment | Available now |
| sa39090 | Splice Site | Mutation detected in F1 DNA | During 2018 |
| sa28623 | Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa36087
- 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:
- G > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000121458 | Essential Splice Site | 7 | 1024 | 2 | 15 |
| ENSDART00000133625 | Essential Splice Site | 14 | 150 | 2 | 4 |
- Genomic Location (Zv9):
- Chromosome 16 (position 19112022)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 16 17142345 GRCz11 16 17050322 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TCCTTGTTATTGGCTATTAATCATATTAATATAAACTTATCTATCTATTA[G/A]TAATCCATCAAATCCACAAGAAGTGAACAATGTCATGGCCCCGGAGGAAA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa36086
- 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:
- A > C
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000121458 | Essential Splice Site | 214 | 1024 | 7 | 15 |
| ENSDART00000133625 | None | 150 | None | 4 |
- Genomic Location (Zv9):
- Chromosome 16 (position 19105884)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 16 17136207 GRCz11 16 17044184 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CTTAATCAATTAATCTTTTTCCATTTCTCTCTACATTTATTTCTTTTTTT[A/C]GGTTAGCCCCACGATGCTCTTTTCCGATCTTCCATCTATTCTCGATGCAC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa11583
- 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:
- T > G
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000121458 | Essential Splice Site | 300 | 1024 | 8 | 15 |
| ENSDART00000133625 | None | 150 | None | 4 |
- Genomic Location (Zv9):
- Chromosome 16 (position 19105519)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 16 17135842 GRCz11 16 17043819 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AACACGAAAACAGCTTGAGACGAACCCACAATTTWACACCTATCTCATGG[T/G]ATTTTATATCATATACCTWAGTTTATWAAAGGAAATGTTTAAAWAATATG
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa39090
- 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 > T
- Consequence:
- Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000121458 | Splice Site | None | 1024 | None | 15 |
| ENSDART00000133625 | None | 150 | None | 4 |
- Genomic Location (Zv9):
- Chromosome 16 (position 19094469)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 16 17124792 GRCz11 16 17032769 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AATACTGGAAGAAACTTTGAAGGTTAAAAGAAGAAAGGATACAAAGGCAA[G/T]TGACAAACTGACTATGATTCACTAATGATTATTATTTATTGGCCTCAAAA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa28623
- 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 |
|---|---|---|---|---|---|
| ENSDART00000121458 | Nonsense | 998 | 1024 | 15 | 15 |
| ENSDART00000133625 | None | 150 | None | 4 |
- Genomic Location (Zv9):
- Chromosome 16 (position 19069316)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 16 17099639 GRCz11 16 17007616 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- ATGAGGAGTTTTTTGACTTTGAGGACTTAGATTATGAAAACTGGTTTGAA[C/T]AGTCACTCACCTCCAATGGAGTCCGCAGGTCAAAGACAAAACGATCGGAG
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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