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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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epb4.1l4
- Ensembl ID:
- ENSDARG00000040087
- ZFIN ID:
- ZDB-GENE-990415-20
- Description:
- Band 4.1-like protein 4 [Source:UniProtKB/Swiss-Prot;Acc:O57457]
- Human Orthologue:
- EPB41L4A
- Human Description:
- erythrocyte membrane protein band 4.1 like 4A [Source:HGNC Symbol;Acc:13278]
- Mouse Orthologue:
- Epb4.1l4a
- Mouse Description:
- erythrocyte protein band 4.1-like 4a Gene [Source:MGI Symbol;Acc:MGI:103007]
Alleles
There are 3 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa18493 | Nonsense | Available for shipment | Available now |
| sa41567 | Nonsense | Mutation detected in F1 DNA | During 2016 |
| sa31759 | Essential Splice Site | Mutation detected in F1 DNA | During 2016 |
Mutation Details
- Allele Name:
- sa18493
- 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:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000058627 | Nonsense | 56 | 618 | 2 | 24 |
| ENSDART00000123842 | None | 603 | None | 21 |
- Genomic Location (Zv9):
- Chromosome 10 (position 1825645)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 10 1771111 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- GTAGTGMTGGACTATGTGTTCAGTCAYGTGAACCTCGCAGAAACGGAGTA[T/A]TTTGGGCTTCGCTATTGCGACCGCAGCCATCAGACGGTGAGKTTTACAGT
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa41567
- 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 |
|---|---|---|---|---|---|
| ENSDART00000058627 | Nonsense | 221 | 618 | 8 | 24 |
| ENSDART00000123842 | Nonsense | 153 | 603 | 6 | 21 |
- Genomic Location (Zv9):
- Chromosome 10 (position 1802100)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 10 1747656 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TATACATGTATTGTGTGTGTGTTTTTTCAGGGAGAAAAGCAGGCAGAGTA[T/A]TTCCTGGGACTTACGCCGGTCGGGGTCGTGGTTTACAAGAATAAAACCCA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa31759
- 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:
- A > C
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000058627 | Essential Splice Site | 361 | 618 | 13 | 24 |
| ENSDART00000123842 | Essential Splice Site | 293 | 603 | 11 | 21 |
- Genomic Location (Zv9):
- Chromosome 10 (position 1786091)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 10 1731647 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- ATGGAGCTCTCTGCACACAATAGCACTCATGTTTCGGAAATGTGTGTTTA[A/C]GGGCGAAACAATGGAGGTCAAGCGGTCACAAAGATGGAGAACACGAGCGA
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- vWF and FVIII levels: Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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