ZMP
wu:fb69f10
Ensembl ID:
Description:
Novel protein similar to H.sapiens SPEN, spen homolog, transcriptional regulator (Drosophila) (SPEN)
Human Orthologue:
SPEN
Human Description:
spen homolog, transcriptional regulator (Drosophila) [Source:HGNC Symbol;Acc:17575]
Mouse Orthologue:
Spen
Mouse Description:
SPEN homolog, transcriptional regulator (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1891706]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37390 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37390
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000110807 | Essential Splice Site | 545 | 3103 | 9 | 18 |
| ENSDART00000138707 | None | None | 457 | None | 5 |
| ENSDART00000141411 | Essential Splice Site | 547 | 691 | 8 | 11 |
The following transcripts of ENSDARG00000074332 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 22 (position 172167)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 168320 |
| GRCz11 | 22 | 141349 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGAGCAGTACCTGACGCGACACTTCTGCCGTTATGGCCCCGTGGTGAAG[G/A]TATGTGTGTTGATGCAGTGTGTGTGTTTGTGTGTGTGTGTGCGCGCGTGT
Long Flanking Sequence:
TGACATTGCGTCACTATGGCTTTCCGACTGGATGTGCTCATTTTTGACTTAAAAACCCCCAATAGTGTTTCCCATCACCACTCTTGATGAAGATTTCCTTTCTCTTTCCTCCTTATTTCAGGATATCGACATCAAGCGTGTCAACGGAGTTCCCCAGTATGCCTTCGTGCAGTACTCGGACATCGCCAGTGTGTGCAAAGCTATCAAGAAGATGGACGGAGAGTATCTGGGCACTAACAGACTGAAGGTGTGTGTGTGTGTGTGTGTTAATGTAGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTTGATGTGTGATTATGGAACAGTAATAATTGTAAAAGCACTACCCGTATAAGCTTAACCTGTTGTTGTGTTGTGTGCAGCTGGGCTTTGGGAAGAGTATGCCGACGGCGTGTGTGTGGTTGGATGGTCTGACGTCTAATATCACAGAGCAGTACCTGACGCGACACTTCTGCCGTTATGGCCCCGTGGTGAAG[G/A]TATGTGTGTTGATGCAGTGTGTGTGTTTGTGTGTGTGTGTGCGCGCGTGTCTGACCGAGCACTGGCCTCTGCACAGGTGGTGTTCGACAGGCTGAAAGGGATGGCGCTCGTCCTCTACAACAACACTGACTTCGCTCAAGCTGCAGTTCGAGAAACCAAAGGGTGGAAGATCGGAGGAAACAAGATTAAGGTATGGAAGGTTTAAATTTTAAGCTATGACTGTGATGTAGTGTGTGCCTAATATTTTATCAGTGTCGCATGATCCTTCTGGAATCAATGTAATATGGTTATGTTCTGTTCTCTGGTAGTATTTTAAATGAATAATAAAGTGTGTATGAACAATAAAACTCATCAGTTAATGTTCTTGTTTCTTATTTCAGGTTGATTTTGCCAGTCAGGAGAGTCAGATGGCCTTCTACCGCTCTATGCAGGCGTCAGGGCAGGACATCCGGGACTTCTATGATATTCCGTCAGACAGGAGGTGAGGGCTGCATCTAGTG
Associated Phenotype:
Not determined