ZMP
taz
Ensembl ID:
ZFIN ID:
Description:
tafazzin [Source:RefSeq peptide;Acc:NP_001001814]
Human Orthologue:
TAZ
Human Description:
tafazzin [Source:HGNC Symbol;Acc:11577]
Mouse Orthologue:
Taz
Mouse Description:
tafazzin Gene [Source:MGI Symbol;Acc:MGI:109626]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa44993 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa44993
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000060718 | Essential Splice Site | 186 | 262 | None | 10 |
| ENSDART00000124261 | Essential Splice Site | 186 | 262 | None | 11 |
| ENSDART00000131302 | Essential Splice Site | None | 154 | None | 11 |
| ENSDART00000138805 | None | 159 | 158 | None | 6 |
| ENSDART00000140861 | Essential Splice Site | 186 | 262 | None | 11 |
| ENSDART00000147982 | Essential Splice Site | None | 80 | None | 9 |
The following transcripts of ENSDARG00000041421 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 4974176)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 4982875 |
| GRCz11 | 23 | 4918460 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTGCAGAATGTTCTCTTCACCCAATAATTTTACCTATGTGGCATATAGG[T/C]AAGTTGTGCAGGCGCTTTTGAATGACATGACATGCAGCTATAATGCATAA
Long Flanking Sequence:
AATGAAATGTAAATGTAAACAGGCCATCTGTCCTCTGTTTTTTAGGTGATGGAGTATATCAGAAAGGAATGGATTTCCTTTTGGAAAGGCTGAATCAAGGGGAATGGATACACATATTTCCGGAGGGTATAGACAGGCAAACTCATGTTTTTTTGGCCTTAAAATTACATATAAATAAATTATATATATATGATAATTATATATATATGATAAATATATATATATATATATATATATATAAATATATATATATACATATGTATATATACATATATACATATATATATATATTCTCCTTATAGGTAGAGTTAACATGTCTGGAGAGTTCATGAGGATAAAATGGGGTAAGATGGTTTTGCTCTAATAATAAGATGCTACTTGTTTGCCCTTTTGATAAGGGCAATCAAGTAAATTTTTTATTTTTAATTTTTTTAAGGAATTGGACGTTTGATTGCAGAATGTTCTCTTCACCCAATAATTTTACCTATGTGGCATATAGG[T/C]AAGTTGTGCAGGCGCTTTTGAATGACATGACATGCAGCTATAATGCATAACTTAATGAATTTATATTAGTGCAACTTTCTTATGAGGGCCAAAAGCATCACTTTAACACTTGGCGGAATGAACCGCCAACTTATCCAGCACATTTTTACGCAGCGGATGCCCTTCCAGCCACAACCCATCTCTGGGAAACATCCACACACACACACTCATACACTATGGACAATTTAGCCTACCCAATTCACCTGTACCGCATGTCTTTGGACTGTGGGGGAAACCGGTGCACCCGGAAACCCACGCGAACGCAGGGAGAACATGCAAAGTCAATACAGAACACCAACTGAGCCGGGGATCGAACCAGTGACCTTCTTGCTGTGAGGCGACAGCACTATCTACTGCGCCACTGCATCGCCCTGAACTCTTCATATTTGGCAGCTAATAATAAATATATGCTTTATATGCAATTAAAAAAAACATGAACAAATTAGGAAAATATCTTTATT
Associated Phenotype:
Not determined