ZMP
si:ch73-60g14.3
Ensembl ID:
ZFIN ID:
Human Orthologue:
HEPHL1
Human Description:
hephaestin-like 1 [Source:HGNC Symbol;Acc:30477]
Mouse Orthologue:
Hephl1
Mouse Description:
hephaestin-like 1 Gene [Source:MGI Symbol;Acc:MGI:2685355]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa7219 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa41658 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa34902 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa34901 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa7219
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:
C > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000064733 | Essential Splice Site | 9 | 1091 | 2 | 20 |
| ENSDART00000135985 | None | None | 197 | None | 4 |
Genomic Location (Zv9):
Chromosome 10 (position 24847497)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 24446849 |
| GRCz11 | 10 | 24416301 |
KASP Assay ID:
554-4523.1 (used for ordering genotyping assays)
KASP Sequence:
TCTCTGCTGCAGAATWATTTGAGAACCCTAGCTGGGCAGTTGTGTTCTTT[C/T]GGAAACTATGCTTTCTTTCCTGGAGTTTTTGGGAAGCTTGAGCATCTTCT
Long Flanking Sequence:
GCTAGAATAGCAGATATCTGGAGTTTATCATCCTGACAGGTTAAATATATGTTACAGACTCTTTTCATGTTTAAACCCGGCTGAGAAATCCAGTAGGTGTGTTTAAGTACATGATAGGTGCTTTCTAGCTGGTCTAAGCTGGTCATTAGCTGTTGTAAGTTGGTTGTTAACAGCTACCATGTTCCAAATCCCATTTAGACTACATTAAACCCCTGCAACCATGTCATTTATTGCTGTGATAAATGATTTATCAGTTTTCACCAGCTTATAATCAGCCTGAATCAGCTAATGATAATAGTTACTATATTCCTGACAGCTTTTACAGATAGACTCTTCCAACAGGGAAGGGCTTTCCATGAATTTAATGGGTGTGTAAAAGGCTGTTATCATGGCTCATGACTGGTCATCTTCATTGCTCTGCTGTCATATTATAATTCAGGGCTTCGCAGATCTCTGCTGCAGAATTATTTGAGAACCCTAGCTGGGCAGTTGTGTTCTTT[C/T]GGAAACTATGCTTTCTTTCCTGGAGTTTTTGGGAAGCTTGAGCATCTTCTGTGCTGTATTAGCCCAGGCGTCTGGAATGGAAAGAATCTTCTATATTGCGATTCGAGAGGAAGAGTGGGATTATGCACCAAGTGGACAGAATCTGATCAATGGGAAGCGTATTGAAGAGGATGAGTAAGAGATTTATTTATTTATACAAATAAATACATTTTTAGATTTTTGTATAGCTATATTTATAATTAATTCTATTTTTATTCATGTATTATATTATTTATTATGTTTTAATGAATCTACATAATTACACAATGCACACAATTTAACAAATATTTTATTTTATGGTTTTATTTTAAAAGTCAACAATTTTAATTCCTATGTATATTATTTAGACACCATTCTTGATACTTTCTTACAGGTGGGGTCAAGACATAGTATTAAGTTGTGTACATAAGGATAGCAAAATAATGAAAACTTTGACATTGAATTCATAAGTTCTTCATACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41658
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000064733 | Nonsense | 63 | 1091 | 2 | 20 |
| ENSDART00000135985 | None | None | 197 | None | 4 |
Genomic Location (Zv9):
Chromosome 10 (position 24847333)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 24446685 |
| GRCz11 | 10 | 24416137 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTGGGATTATGCACCAAGTGGACAGAATCTGATCAATGGGAAGCGTATT[G/T]AAGAGGATGAGTAAGAGATTTATTTATTTATACAAATAAATACATTTTTA
Long Flanking Sequence:
TGTTAACAGCTACCATGTTCCAAATCCCATTTAGACTACATTAAACCCCTGCAACCATGTCATTTATTGCTGTGATAAATGATTTATCAGTTTTCACCAGCTTATAATCAGCCTGAATCAGCTAATGATAATAGTTACTATATTCCTGACAGCTTTTACAGATAGACTCTTCCAACAGGGAAGGGCTTTCCATGAATTTAATGGGTGTGTAAAAGGCTGTTATCATGGCTCATGACTGGTCATCTTCATTGCTCTGCTGTCATATTATAATTCAGGGCTTCGCAGATCTCTGCTGCAGAATTATTTGAGAACCCTAGCTGGGCAGTTGTGTTCTTTCGGAAACTATGCTTTCTTTCCTGGAGTTTTTGGGAAGCTTGAGCATCTTCTGTGCTGTATTAGCCCAGGCGTCTGGAATGGAAAGAATCTTCTATATTGCGATTCGAGAGGAAGAGTGGGATTATGCACCAAGTGGACAGAATCTGATCAATGGGAAGCGTATT[G/T]AAGAGGATGAGTAAGAGATTTATTTATTTATACAAATAAATACATTTTTAGATTTTTGTATAGCTATATTTATAATTAATTCTATTTTTATTCATGTATTATATTATTTATTATGTTTTAATGAATCTACATAATTACACAATGCACACAATTTAACAAATATTTTATTTTATGGTTTTATTTTAAAAGTCAACAATTTTAATTCCTATGTATATTATTTAGACACCATTCTTGATACTTTCTTACAGGTGGGGTCAAGACATAGTATTAAGTTGTGTACATAAGGATAGCAAAATAATGAAAACTTTGACATTGAATTCATAAGTTCTTCATACTGTAAACTAAAATCCAACAAGAGTTAAAGAAAACTGCAGCAGCAAGTCTGGGAAATTGCTGAAGTTCAGGTTTGCATGAAACTGGAGACTACAGGCTGTCATTGAGAATAAGGGTGGGCAACAAATGTATACTATTGACACTGTAAATATTATCATACTAGGACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34902
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000064733 | Essential Splice Site | 66 | 1091 | None | 20 |
| ENSDART00000135985 | None | None | 197 | None | 4 |
Genomic Location (Zv9):
Chromosome 10 (position 24842343)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 24441695 |
| GRCz11 | 10 | 24411147 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTTTAAGCTAATAATTCTTCAGAAAACTCTACTTACTTTCTTTTTCCTC[A/C]GGCAGGCATCAGTATTTCTGCAACGTGGGGCTCGGCGGATTGGCAGTGTG
Long Flanking Sequence:
CTTCTTTGATATAAAGCCTTGAAGGGCAAATACTATTTCATGGAGCATATAATATAACATTAACAATGGTATTCAATAATTACAATGGTATTCAATTATTCATATAATGCATATAATTCATATTAATTACATAAAATTAACAGCTGCACTGGACAAAATATTTAGCAGAGCCTTGTATGCTTAATTTGAACAAGAAAAAATATTCACGCTAAAACATTAATTAAATATTATAGAAAAAAAAAAAAGATTTCATATTACATATTACAAATAAAGAGTGTAACACATAACATAATACATTTTTATTAAATGTTAGCTACTCATTTTTTTATATATAATATTAAGCTATAATTCAATGTCTATTTATGTTCCTCCAAATATTTGCCTAAATTGAATGCATTCAATATATTGAGTGTATTTATCAAATGCACTCAATTATGGAAGAAAATTACCCGTTTAAGCTAATAATTCTTCAGAAAACTCTACTTACTTTCTTTTTCCTC[A/C]GGCAGGCATCAGTATTTCTGCAACGTGGGGCTCGGCGGATTGGCAGTGTGTATAAAAAGGCAATTTACAGGCAGTACACAGATTCTTCTTACTCTCAGGAGGTCCCCAAACCCCCCTGGCTGGGTTACCTGGGGCCCATCATGAGGGCTGAGGAGCAGGATGTTATCATAGTGCACATGAAGAACTTTGGCTCCAGACGTTACTCCATGCATCCACATGGCGTCTTCTATGCCAAAGACTCAGAAGGTAAAGCCTCTTTCTGTCTCAATCACTCCTTCTTGCTGATCATTTCCATTTCTACCTTGGGATAGAACATAATAGAAAGATGATTGTGATGGCGTTTTTTCTTAATTTTGAGTTGTTTCTGACAATTTTATCACAATACTGTGTGTATATTTTTCTATTGCTTTAGTTCTCACAACCTTGAGTTCATTTATCGTAATTTGCTGTTTGCATTTTTCAGTTTTGACTTTTTAAAATCAGATTTGGAGCTTTATTTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34901
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000064733 | Nonsense | 483 | 1091 | 9 | 20 |
| ENSDART00000135985 | None | None | 197 | None | 4 |
Genomic Location (Zv9):
Chromosome 10 (position 24837362)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 24436714 |
| GRCz11 | 10 | 24406166 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTACTGAGGGCAGAGGTTGGAGATACACTTCAGGTGATGTTCATGAAT[A/T]AAGCTGACAGAAACTACAGTATCCAGCCTCATGGACTCCAGTACGACAAA
Long Flanking Sequence:
CTCCACGGCTCCTCTCAGTGGGAAGATCAGGAAGTATTTCATTGCTGCTGAGAAGGTTCAGTGGGATTACGGACCATCAGGGATGAACCAAGTGACCAAGGAGTCTCTAATCGATCCTGGAAGGTAGAATATTTGATTATAATTCACATTCGCATTATATGCACTACAAATGTATGAAAGTGTACGTTTATTTCTATTCTTTATTCATCCATAGCTTTTCAGAGGTTTTCTTTGGGACCAATAATAGCCGAATTGGTGGAAAGTACTGGAAGGTGATATACAGAGAATATACAGATAAGACTTTCACCTTAAAGAGAAAGCAAACCAGTGCTCAGACTCATCTAGGCATTCTGGGTGAGTGGATCATTGCAATAACAATAATATTATCAGCATTTGCAAGAAAGTGTTTTATAAGTCTGGTTTGCACTACCATCATGGTTCCTGTAGGTCCAGTACTGAGGGCAGAGGTTGGAGATACACTTCAGGTGATGTTCATGAAT[A/T]AAGCTGACAGAAACTACAGTATCCAGCCTCATGGACTCCAGTACGACAAACCCTTCGAGGGAGTATTTTATCAAGATGGTGAGATTTATTTTACACTATCAGGCTAAAGATCAGGGTATGCTTACTTTTTTTTTTTTTTACCCATATGTTAAAATAAAATATTAATAAAGAAGCCAAACATTTTGACTAATATATATATATTAATATTATTCACTTAATATATATAAAGTCAGAATTCTGAGCTATAAAGTCCAAATTTTGAGAAATAAAGTCAGAACTCTGAGTGATAATATCAGAATTTAGAGTTGTAATGTCGCAATTCCAAGTTAAAAAGTCAGAATTCCGAGTTTTAAAGTCGCAATTCAGAGTAATAAAGTCAGAATTCTGAGTTATAACACCGCAATTCAGAGTAGTAATCTGAAATTTGAGTTATAAAGTTAGAATTCCGAGTAATAAAGTCACAATTCCGAAATATATAGTCAGAATTCCGAGTTATAAAG
Associated Phenotype:
Not determined