ZMP
hsd17b12a
Ensembl ID:
ZFIN ID:
Description:
Estradiol 17-beta-dehydrogenase 12-A [Source:UniProtKB/Swiss-Prot;Acc:Q6P3L6]
Human Orthologue:
HSD17B12
Human Description:
hydroxysteroid (17-beta) dehydrogenase 12 [Source:HGNC Symbol;Acc:18646]
Mouse Orthologue:
Hsd17b12
Mouse Description:
hydroxysteroid (17-beta) dehydrogenase 12 Gene [Source:MGI Symbol;Acc:MGI:1926967]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa3308 | Essential Splice Site | F2 line generated | Not yet available |
| sa32541 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa3308
Status:
F2 line generated
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000005299 | Essential Splice Site | 60 | 319 | 1 | 11 |
The following transcripts of ENSDARG00000015709 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 25 (position 31185983)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 29753344 |
| GRCz11 | 25 | 30196351 |
KASP Assay ID:
554-3095.1 (used for ordering genotyping assays)
KASP Sequence:
GTGCTGGGAAACGGGGACTTACTCTCTCCCAAATTGGGAAAATGGGCAGG[T/G]AAGTTGAACGACATGAGAGCTTGTATTGGCAGATCATGGGTGGGATAAAT
Long Flanking Sequence:
TTTCGGTCCGCCCCATTGAAACGGGCAACCGAATGAATGAGAATGGGCTCTTTAAGATTGACGCGCACATTAGCCAATGATCTGCAAGTAGTGATTGACGGACGCGCGTTTCAGCCAATAGGTAACGGACGTGGGCTCGCATGGGCGGCGATGGAGTATGTGGGAGGTGTGCACTTAAATCTGGATAGACTAGTATGTTAGAGGAGTTGTAGGGGTGTGATGCCACAACCTGCTTATAAAGGGGCGCACACATTGAAGCTTTAAAGCAGTGCTTAACGACTAATTTTGCAGGTCATTCACCACGCGCAGCCAGCCGTAGACATGGAGTCGTTTAACGTGGTGGAGACGCTACAGCCTGCCGAAAGAGCGCTCTTCTGGGTCGGTGCACTTATCACGGCCTCGCTGGCGTTGTATGTGGTGTACAAGACCATCACTGGATTCAGGATATGGGTGCTGGGAAACGGGGACTTACTCTCTCCCAAATTGGGAAAATGGGCAGG[T/G]AAGTTGAACGACATGAGAGCTTGTATTGGCAGATCATGGGTGGGATAAATGCAGTGCGCATTTGGCGCAGCCTTAAACTAAATAAAGGTGAACTTCGTGGATTTTGAGTGAAACTAATAATTTTGTAACTTTTTTTTTTGCGCATTTAACACCTCATTGACAGAAGCCACAAATGGGGGGTGATTGTACCACTCACGTCAATTCCTAATCGTTAAATGAGATTAAATCAAAAGACTAATTGAGACATCAGTATTTTATCGCATGGTCAACGGAGGCGACGTGTGTCTCAGGTTGACTGATTGCGCCATACATTCATATATTATGCGCAGATTGCATGTCACTCTGAGTCATTCAGGTATTTCAGTCAGACATTTTTTTTTTTTTGCTCAAAATATTCGCTTAAATATGAAATTTGACTAATTAGATAGAACATTAATTTAAAATCGGCTTGTACTTTATATTAAACGCATACTTGTAAAGATATCCAAGACGTTTTGATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32541
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000005299 | Nonsense | 220 | 319 | 9 | 11 |
The following transcripts of ENSDARG00000015709 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 25 (position 31214511)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 29781872 |
| GRCz11 | 25 | 30224879 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTATTGTTTTCCTGTCATCTTTTAACAGGCTTTTGTGGACTTCTTCTCA[C/T]GAGGACTTCAAACAGAGTACAAGTGCAAAGGGATCATCATCCAGGTTAGA
Long Flanking Sequence:
AGAATTAGCCATCTTTACAATGGTGTTAAAATATATTGAATTGCAAAAACTGGCTAATTTAACTGTATAAGTACAATCTGATTCACAGCACTGAGATCGTTCACATGAGTAGATCATCCTAATTGCTAAATTTCATCAGTACCATCAAAACCATTACTGTTATATTTTAGTATATAGTGATCTTTTCATTTTATTTATTTAAAACTTTATATAATTTAAATATAGACGTGGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTATTAATAAATCAATAATTGTAATTTTGGCATGCCAGAAATATTTTTAAAGTCACTAGCTATTGACAGTTGTAGCAAAATGCTAGTTTTTGACCCTGTATTTAAATTGGTCAATATTTGATTGTATTTATGTATATAGTGTAAAAATTGTTACTAAACTCAGTACCAACCAGGCTCAACAAGTGAATATGTATTGTTTTCCTGTCATCTTTTAACAGGCTTTTGTGGACTTCTTCTCA[C/T]GAGGACTTCAAACAGAGTACAAGTGCAAAGGGATCATCATCCAGGTTAGAGAGACATCATTTAATGCTATTTAAACCCCGATTTTGAGGAACGTAGCATAGTGAAGCAATGGAAATTGTAGGGAATTAATTTGTTAGGAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGTATGGCTTTTTATTCTATTTCATCCCTATTAAGTTTGTTAGAACTTCAAAAATCTATTGTCTATAAGGATTTTTTTTTTTATATCGACTTGTGTCATTTGCTAAATGCATTTGTAGTCGTGGGAAACTACATACATTTGGTCATTGTGTAAGTAGTTAAATGTAGAATTTAAATGAGACTTCATATCTGTGGAATAACTAATATCAAATGTAATGTGTTCGATTAAAATGAATGAATGTATGATTGTCTAAAGCAGTGGTTCTTAATGTGGTACGTGGGCTTCCTTCTAGTGGTACGCGGAGGAATCAAATATGTCATGCTGTA
Associated Phenotype:
Not determined