Search Zebrafish Mutation Project
e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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mxtx1
- Ensembl ID:
- ENSDARG00000069382
- ZFIN ID:
- ZDB-GENE-000710-7
- Description:
- mix-type homeobox gene 1 [Source:RefSeq peptide;Acc:NP_571635]
- Human Orthologues:
- AC025287.2, AL022345.1, AL592170.2, AL671532.1, AL671532.2, AL671532.3, CT476828.10, CT476828.11, CT476828.12, CT476828.13, CT476828.14, CT476828.2, CT476828.3, CT476828.4, CT476828.5, CT476828.6, CT476828.7, CT476828.8, CT476828.9, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, DUXA
- Human Descriptions:
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- D4S2463 homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q13060]
- double homeobox 4 like 2 [Source:HGNC Symbol;Acc:37267]
- double homeobox 4 like 3 [Source:HGNC Symbol;Acc:38688]
- double homeobox 4 like 4 [Source:HGNC Symbol;Acc:38686]
- double homeobox 4 like 5 [Source:HGNC Symbol;Acc:38689]
- double homeobox 4 like 6 [Source:HGNC Symbol;Acc:37265]
- double homeobox 4 like 7 [Source:HGNC Symbol;Acc:37266]
- double homeobox 4 [Source:HGNC Symbol;Acc:3082]
- Double homeobox 4c [Source:UniProtKB/TrEMBL;Acc:Q6RFH8]
- double homeobox A [Source:HGNC Symbol;Acc:32179]
- Homeobox-like [Source:UniProtKB/TrEMBL;Acc:Q14547]
- Mouse Orthologues:
- Duxbl, Gm10391, Gm10394
- Mouse Descriptions:
- double homeobox B-like Gene [Source:MGI Symbol;Acc:MGI:1916048]
- predicted gene 10391 Gene [Source:MGI Symbol;Acc:MGI:3710520]
- predicted gene 10394 Gene [Source:MGI Symbol;Acc:MGI:3710620]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa22275 | Essential Splice Site | Available for shipment | Available now |
| sa35464 | Nonsense | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa22275
- 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 |
|---|---|---|---|---|---|
| ENSDART00000100922 | Essential Splice Site | 8 | 295 | 2 | 4 |
| ENSDART00000100925 | Essential Splice Site | 8 | 309 | 2 | 3 |
- Genomic Location (Zv9):
- Chromosome 13 (position 21800188)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 13 21529526 GRCz11 13 21659976 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TGGTATTGCATTCATTATAATTATTAATTTATTTTAAATTTGTCATTTTA[G/A]ATGCTACTGCTAAAACATCTGGAAGTGGAGCTGTATCCAGAAGCGCAAGT
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa35464
- 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:
- T > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000100922 | Nonsense | 245 | 295 | 3 | 4 |
| ENSDART00000100925 | Nonsense | 245 | 309 | 3 | 3 |
- Genomic Location (Zv9):
- Chromosome 13 (position 21797987)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 13 21527325 GRCz11 13 21657775 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TCAACCCCTGACCCCTGTTACTCCTGACTCGGGCTGCTGGGAGGCCGGTT[T/A]GGACAGGACTTCTCCTGTTGACAACCCAGATGTTCCGAGAACGGAAGGCC
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Dupuytren's disease: Wnt signaling and Dupuytren's disease. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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