ZMP
heatr1
Ensembl ID:
ZFIN ID:
Description:
HEAT repeat-containing protein 1 [Source:UniProtKB/Swiss-Prot;Acc:Q7SY48]
Human Orthologue:
HEATR1
Human Description:
HEAT repeat containing 1 [Source:HGNC Symbol;Acc:25517]
Mouse Orthologue:
Heatr1
Mouse Description:
HEAT repeat containing 1 Gene [Source:MGI Symbol;Acc:MGI:2442524]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa10451 | Essential Splice Site | Available for shipment | Available now |
| sa27897 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa10451
Status:
Available for shipment
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:
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000066446 | Essential Splice Site | 915 | 2159 | 21 | 45 |
| ENSDART00000133233 | Essential Splice Site | 115 | 1279 | 3 | 25 |
| ENSDART00000134463 | None | None | 110 | None | 4 |
| ENSDART00000144776 | Essential Splice Site | 115 | 1337 | 3 | 27 |
Genomic Location (Zv9):
Chromosome 12 (position 10535923)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 9622636 |
| GRCz11 | 12 | 9660479 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTCTCCACCATGACTAACATGCATCTCTCTCTATGTTTGTATATTTGC[A/G]GTGGTGCCGTCTCTGCTGGTGTGTGTATGTTCAGGCGTGTGTGAAGTTCG
Long Flanking Sequence:
TTTATTTTATTTATATTATTTATTTAAGAAAATAAATAATAAGTTGAAACAATACATGCAATTGTTATCTATTCTGTGTGTTGTGTGAATGATACTTATGATGCATGAAGCATGAATATAAATCTAAAAATATTTTTGAAAATACCTCAGGCACACAAAAACTGTATTAAAATACATCGGACAGACAGAATCAAATAATTTTACACAAAACTGGCTTTGATTTGCTAAAATGATTGTTTAATGTTTTAAATAATGTTAATACTACAGTCCAATTTTTAATTAAAGTTTCATTTATTGAATACAGTAAATTTAAAATAATATAATAAATTAAATTTTTGATTTACTTTGATATACTTTTATTCCTGCAGAATAATTAATTTTATTTTTAATTAGTATTTTTTTCATTTAATTTTGTTTACTTTCATTTCATTGGATCCTCCACAGAAAGTTTGTTCTCCACCATGACTAACATGCATCTCTCTCTATGTTTGTATATTTGC[A/G]GTGGTGCCGTCTCTGCTGGTGTGTGTATGTTCAGGCGTGTGTGAAGTTCGTAGAGCTGCCATCGCTGTGCTCCAGTGTCTCTCTGGGCTTGTTTCTTCACCGTATCATCCGCTTGTGGAGAAACTCCTCAAATCATCAGAGGAGATCATCGCTGACTCCTCATATCTTACCCAAGTCAGTCAAAACTAAATACAACTGGCTCTTGAATGTTTTTATTGCTCTCAGTAATACACTCAGTAATTTCCATAATCAAATGACTTCTGAATTTATTGTAGGCATTGTCCAAGTTCTACGAGGAGGCCGTTTCACGGAAAGATAAGAATAAAAAGTTGGCATCAGTTGAGCAGCTCCTTCAGTGTTTACAGTCTCCCTTCTGTCCTTCCTACACCTCCAAAACACTTCTGCGGGCTCTTCAGGATGTTCACGGAGAGGTACTATCATCAGGCTGTTTGTTGTAGTTGCAATAATACAGACGTCTCATGGTTCGGTTTTCAGTTTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27897
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 |
|---|---|---|---|---|---|
| ENSDART00000066446 | Essential Splice Site | 1182 | 2159 | 25 | 45 |
| ENSDART00000133233 | Essential Splice Site | 382 | 1279 | 7 | 25 |
| ENSDART00000134463 | None | None | 110 | None | 4 |
| ENSDART00000144776 | Essential Splice Site | 382 | 1337 | 7 | 27 |
Genomic Location (Zv9):
Chromosome 12 (position 10542098)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 9616461 |
| GRCz11 | 12 | 9654304 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAACAAAGAGTTACTGCAACAGTTCAACAAACGCGCAGAAGTAAAATGAG[G/A]TGAGTGGTTGTACTTTCGTAGTACACCGCAAATATTCCAGTTCTAAGAGG
Long Flanking Sequence:
ATGATAATTGCCCCTGACTGGATTATTTTCAGAGCTTTATTTGTCTGTGTATTTTGATGGGATGTTTCCTCAGATTACCAAGCCGTTCTTCACTGCTATTGGAGATGAAAAGATTCAACAGAAGATTCTTTCGATTTTGTTTGACCTGCTTGTTGGGAATAAAAGCCCTGCCTGCGCCCAAAGTATCAACAGTGTCTTTAAAACGGTAGGGGAAATCTTCATATCTTCTCTATGAACTGCAAAAACTGAATCATTTCTGTATATTAAACAAAAGGATTTTATTTAACTAAAATTATTTAGAAGAAAAGTGATTATTTATTTTATATTTATTAATTTTTTTTTCATTTAATCAGAGCAATAAATGTAAACCTGTAAAAATGTTTGCCGTGTGTCTCTTTCTAGATTGCAGTGGATTGCGAGCTTGTGGCCAATGAGCTGATTCCTGCCGATAAACAAAGAGTTACTGCAACAGTTCAACAAACGCGCAGAAGTAAAATGAG[G/A]TGAGTGGTTGTACTTTCGTAGTACACCGCAAATATTCCAGTTCTAAGAGGTTTGAAGATTCAGACTGCAGTTTGTTTTCTCCTAGAAAAACACAAGACACATCTGGGGCAGTGCCAGAGGAGAGTGTTGTTTCTTGGCCAAGGGTGACGCTAATTTTAGAGCTGCTTCAACACAAGAAGAAACTTAAGAGGGCTCAGTATCTAGTGCCCGCTCTGTTTAATTTGCTCTCAAGGTATGTTAATACAACATCTACTTTGATTTCTAGATGTTTTACAATAATATCAAGTAGAGCTGAAGGATTCTCTTTAAACTGGCAAATCACATTTATTTTGTTTAAAATATAGATTCTGTTTATGATTATACTGTAGATCAGGGCCTGGCGATTTGGCCCAAAAAAATTTTTTTTGCCCTCTTCGTTCACTGACAGGTTGTGTACTGTAAATATGCTCACATATTACAAGTGAGAGATTTTTGAATGAAGGGTGCATTACTTGATTTTA
Associated Phenotype:
Not determined