ZMP
zgc:92380
Ensembl ID:
ZFIN ID:
Description:
hypothetical protein LOC445086 [Source:RefSeq peptide;Acc:NP_001003480]
Human Orthologue:
BFSP2
Human Description:
beaded filament structural protein 2, phakinin [Source:HGNC Symbol;Acc:1041]
Mouse Orthologue:
Bfsp2
Mouse Description:
beaded filament structural protein 2, phakinin Gene [Source:MGI Symbol;Acc:MGI:1333828]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21597 | Nonsense | Available for shipment | Available now |
| sa27485 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa21597
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000060593 | Nonsense | 148 | 384 | 3 | 7 |
| ENSDART00000099835 | Nonsense | 148 | 501 | 3 | 8 |
| ENSDART00000113883 | Nonsense | 148 | 426 | 3 | 9 |
Genomic Location (Zv9):
Chromosome 9 (position 48873500)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 48318119 |
| GRCz11 | 9 | 48015514 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTATATGAAGTATGCTAATGAAAAGGGTCTCGTCTGGGCAGGTTTGAGT[C/A]GGAGCAGGCCATGCGGCAAGGGGTGGAGCAAGATTTGGCACGTCTCCGCA
Long Flanking Sequence:
ATGAGCCTGGGTTGCTATAATTTGCCGTTTTACTCCATAGAACTCCAAATAAAAACCAGACATTTTTTTTTGCACAGGCATATCTAAAGGGTTAATGAAACCAACTGATGACCAACTGTAAAAACAGCTCATTTTACTTCTTTCCAACAGGGAAAACCAACAACAATTAAGAATGCATGATTATCTGGTGTTAAGGCTTTGCAATCAAAAATGTGATTATAATGGAAGTCAATAGGCCAAAAACAGCCACCGACATAACGAAAGGATAATAAATTTACCCAGAGTGTATTTTTTTAAATCTTCAAAGGATTTTCCCAATTTATGTGTTATGTGTTCCATATCCTAAAACACAGAGAACCTTGTGGCCAAACTAAGACTCAAAATCCCCCAAGAGTGGAAGGAAACATCCCCAACAGCAAACAAGGGTTAAATACAACATCCGGCTTGCAGTCTATATGAAGTATGCTAATGAAAAGGGTCTCGTCTGGGCAGGTTTGAGT[C/A]GGAGCAGGCCATGCGGCAAGGGGTGGAGCAAGATTTGGCACGTCTCCGCAAGATGTTGGACGACACTTACATGGGCCGCATGCAGCTGGAGGGCCAGATTGAGTCTATGAGAGAAGAGCTGGCCTTCCTGAAGAAGAGCCACGAGGAGGTGCACGCCTTAAACACACTATTTACACCACAAACCTCTAAAGTATTGTAGTGTATTCATGCTCTCGGCAGATACAATGATCTGTGTTTGACTCATTGTTGAAGCACAAACAGCCTTCCAGGCACAGCAGCAGTTAATAGTTAATAGAGTGCAACAGTAATAGTCTAGGATTTGATCACGGAAAAAAAAAATGTAATAATTAATATTCTCCAGACACACCTGCTTTGATAGCATAGGATGAATAAACCATCTAGGAAAATCTTTAAAGCAGGTGCTCGATCAAGCCAAACACAATAGAAAAAGTCAACAACAAAAAAGAAAACCGACACACTGCCACTTCAGCTCTCAAAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27485
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 |
|---|---|---|---|---|---|
| ENSDART00000060593 | None | None | 384 | None | 7 |
| ENSDART00000099835 | Essential Splice Site | 374 | 501 | 7 | 8 |
| ENSDART00000113883 | Essential Splice Site | 374 | 426 | 7 | 9 |
Genomic Location (Zv9):
Chromosome 9 (position 48855800)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 48335819 |
| GRCz11 | 9 | 48033214 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAAGCCCCTCCATTTGTGCCACTGTCTGATGTTTTCTCTTCCCTCCCAC[A/T]GAGAGGAATTTTCTTTAGAGCAGGCCTTATATGCAGGTAAGTGCCGTGAT
Long Flanking Sequence:
TATGTAGCCACTAAGTCCTAGGAGGATATACATGAGATGATAGAAATCGATTCAGATGCAAAATAAATCAGGATTTAACTGGGGCAAGAACTATAGCAAACTGAAGTAATACGAGTTTATAGACGAATTCAATGTGGTTATGTCAAAGGCCCATGAACATTTTCTGCTTGTTGTCAAACAATTTCATAATTGTAATCTGGAAGTTAATAATAATGTTAAATCAGCTATAATAACATTATTTATCAATACGTGGACCTTTTTGGAAACAATGGAAATGAGTAATGTAAAACAGGAAATGCTTTAGGACCATTGTTAATGTTTACGTCCCTCAAAATGGTCTATTTCCATGAGTTGTGCGTTAAGTCAATATATTGATTATTGTGACAGGCCTGAGTGAGATGGTTTTATCCTTACACCCCAGTCTTGATTATTTAGTTGCACCCTTTCCCAGCAAGCCCCTCCATTTGTGCCACTGTCTGATGTTTTCTCTTCCCTCCCAC[A/T]GAGAGGAATTTTCTTTAGAGCAGGCCTTATATGCAGGTAAGTGCCGTGATGTGTAGATCTTAGACATCGTCAGTATGGATTAACAAACACGCTTGCCTAACCCACATCAAGTTTTGCCTTCATACTAATCATCACTCACTGCTCTGCGATCTAACAGACGAGTAAACAGTGCTGCTGAGGCCTCGCTGGCTGAATGAACACACGCATCAGTCACGCTGTTTATGTTTCTCACTGCTGATATCATGCAAATGTTTGAAGATAAATGTCTTTACTGTTAGCTGAAGAATCAAATGGGTCTTTCTAAAAAACAGGTGCCACTTGTGACTTTTTATACACATATTTATCATTATCGCCAATAAATTATATCTGTTTTCTTTTCGAGTTCTATTAGCATATATAACAAGTACACAGTATTTGAGAAGAGCAAAATACATGTTTGACTTTATTTTAAATTTGTGGTTGTTAAGATTTGTGAATGTTTACTTATTGTAAATTCTCCT
Associated Phenotype:
Not determined