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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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PDZRN4 (1 of 2)
- Ensembl ID:
- ENSDARG00000086878
- Description:
- PDZ domain containing ring finger 4 [Source:HGNC Symbol;Acc:30552]
- Human Orthologue:
- PDZRN4
- Human Description:
- PDZ domain containing ring finger 4 [Source:HGNC Symbol;Acc:30552]
- Mouse Orthologue:
- Pdzrn4
- Mouse Description:
- PDZ domain containing RING finger 4 Gene [Source:MGI Symbol;Acc:MGI:3056996]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa45861 | Nonsense | Mutation detected in F1 DNA | During 2018 |
| sa25444 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa45861
- 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 |
|---|---|---|---|---|---|
| ENSDART00000129735 | Nonsense | 4 | 310 | 1 | 2 |
- Genomic Location (Zv9):
- Chromosome Zv9_NA498 (position 3534)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 KN150254.1 3534 GRCz11 KN150254.1 3534 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TGCGTCCGGATCAGATCAGCCCATCTGAGACTCCAGAAGCGGAGCGTTTC[C/T]AGCAGCTGCTGGAGCTCAAGTGCCAGATCCGAAACAGCGGCGAGTACGAC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa25444
- 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 |
|---|---|---|---|---|---|
| ENSDART00000129735 | Essential Splice Site | 183 | 310 | 1 | 2 |
- Genomic Location (Zv9):
- Chromosome Zv9_NA498 (position 4074)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 KN150254.1 4074 GRCz11 KN150254.1 4074 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AGGACAATAAGATGGAGTGGAAGGTGAAGGTGCGGAGCGACGGGACCAGG[T/C]ACACACTGATCACCCTCATCTATCATTAACAGTCTGAAGCACACCACTGA
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Normalized brain volume: Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (View Study)
- Protein quantitative trait loci: A genome-wide association study identifies protein quantitative trait loci (pQTLs). (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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