ZMP
si:dkeyp-8h9.2
Ensembl ID:
ZFIN ID:
Description:
Wu:fc88b11 protein [Source:UniProtKB/TrEMBL;Acc:B4F6Q5]
Human Orthologue:
POF1B
Human Description:
premature ovarian failure, 1B [Source:HGNC Symbol;Acc:13711]
Mouse Orthologue:
Pof1b
Mouse Description:
premature ovarian failure 1B Gene [Source:MGI Symbol;Acc:MGI:1916943]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43696 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa37361 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa43696
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 |
|---|---|---|---|---|---|
| ENSDART00000076193 | Essential Splice Site | 172 | 549 | 2 | 14 |
| ENSDART00000124349 | Essential Splice Site | 231 | 608 | 2 | 13 |
Genomic Location (Zv9):
Chromosome 21 (position 37535361)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 38527396 |
| GRCz11 | 21 | 38575102 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTCTTCAGCCAGTTATCCAGTCCAGTCAAGAGTCCTGAACCATCTGAG[G/A]TAACAAAATAACATCTACCCTCCACTCTAACAAGCACATGTTCAGTAGCA
Long Flanking Sequence:
CTACAGTAATTAACCCAGTTAAGCCTTTAAATGTCACTTTAAGCTGTACAGAAGTGTCTTGAAAAATATCTAGTCAAATATTATTTACTGTCATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATGAGTTATTAAAACTGTTATGTTTAGAAATGTGTTAAACAAATCTTCTCTCCGTTAAACAGAAATTAGGGAAAAAATAAACAGGGGGGTTGATAATTCAGGGGGCTAATAATTCTGACTTCAACTGTAAGGTTATGTGTCTTAATGTGTAGTTTTTTTTGTTGACTTATTTTTTATTTAATATGTCTGTAAATCTAAACCCATTCAATTTCAATTCAAATTAAGGAAGAAAGACCTGTGAGACAGAATGTTATGCAACTCTGCCTGATTCATTTATGATATTTCTTTTGTTTTTACTATTCAGAACATAAATGGACAAACAACAGTCTTCAGCCAGTTATCCAGTCCAGTCAAGAGTCCTGAACCATCTGAG[G/A]TAACAAAATAACATCTACCCTCCACTCTAACAAGCACATGTTCAGTAGCATCTAATGAGCAGTTCCAAGCAAATGTCAAGGTTGCCATGAAAAAAAAGTTGTTTGTGTAGGCTTTTTTACTCAAAAATGTCTGGCATTGTTTTTAAAACAATTTCATTTGCTTTACCAAAGTCACACAAGTACCGATTTCACATCTGTCAGATGCATAACTGATAGATGTCACATGCGTAACGCAGCTTTTAAATGCAAAAAGTACAACCTCATATCAAAAGAAATAGGGACAGTATGGAAAACGCATACAAAAAAGAAAGTGATTTTTTATTTATTTTTTATTTTTTAAATACATATTCCAATTTTGGTTTTTGCAATATATTTTCTGGTGTTTTTAATTTTTAAAAACCATTTTAAGGTCAAAATCATTAGCTCCTTTAAGTTATATTTTTTGATAGTCTAAAGTACAAACCATCATTATACAATAACTTGCCTAAATACCCTAACCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37361
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000076193 | Essential Splice Site | None | 549 | None | 14 |
| ENSDART00000124349 | Essential Splice Site | None | 608 | None | 13 |
Genomic Location (Zv9):
Chromosome 21 (position 37474409)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 38466444 |
| GRCz11 | 21 | 38514150 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTTATAACTAGTCATTTCTAAAGTGTTTGTTTTCTGTTTCTTTCTAAC[A/T]GGAATTTAAAGGATAATCTTGAGGCTTCCTTGTTTTCCCGTCCTGACTTC
Long Flanking Sequence:
ATCAACTGAAAGATACTTCACCCTGTATAAATCTCAATAAAATTATATATAATCTACACTTATTTACAAATAATTTACACTTATGACTTATGGTTATTGGGTAATGGGTCATATATACCCACTATATCATCAGAAAAACAACAGATTTAATATTGGCCTAACATTTTGGACAATACTGTATATATAAACATTTTTTTAGAGTATTTATTCAGAAAGCACAGCTTTTCCAAATGTAAACATCTGTAATAAATAAATAATTATAAAGAAAATTACTCTGAGTTGGCATGTTCTATCCTATTATTTATTAATATATATTTTGTTTCTTGCATGTGATGTTCGGGGCTCTGTAATTAGAACAATTAAGTAACAAATAACACAATAAACAGGAAATTTTGTCATAGAAAGGCTAAAACATTTTCTTGTAAAATGAATTATAATTATGTTTGTTGTTTTTTATAACTAGTCATTTCTAAAGTGTTTGTTTTCTGTTTCTTTCTAAC[A/T]GGAATTTAAAGGATAATCTTGAGGCTTCCTTGTTTTCCCGTCCTGACTTCCTCTGCATGCAGCCATCGTCTGCTTCCAGTGCCTCCTATTGGTGGTGGTGACTTTTATCATTTTTAGGCTTTGGAATTGAATAACACATGAAATTTGAAGCAGTACACTTTATGACACAGCTGATGCTATATTTTTTCATAAGATCTTTCTTTATTGCGATGTAACGTGACTACTGATAGTTATTTTTATATTTTTTTGTGCTGTCTCTTCATATGATGCGCCACAACCTTTGGCAGACATAAACACTACTGTAAGCATGTGCATATTTGGAGAGAAATTATTTACTGGTATCATATACAGTGCCTTAACTGGAAAAAATTAAGCATCGTTCGTAATGTAAAAGGTGACTTTTGGATTTCTTATTCATTTGGGTATATTAATTATGGAAGTATGTTGTTGTTGTTATGATAATGTCAAAGGTGATACTTTATACACTTTAAAAAGCTATA
Associated Phenotype:
Not determined