ZMP
pspc1
Ensembl ID:
ZFIN ID:
Description:
Paraspeckle component 1 [Source:UniProtKB/Swiss-Prot;Acc:Q1JPY8]
Human Orthologue:
PSPC1
Human Description:
paraspeckle component 1 [Source:HGNC Symbol;Acc:20320]
Mouse Orthologue:
Pspc1
Mouse Description:
paraspeckle protein 1 Gene [Source:MGI Symbol;Acc:MGI:1913895]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa19509 | Nonsense | Available for shipment | Available now |
| sa39624 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa19510 | Essential Splice Site | Available for shipment | Available now |
| sa45073 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa19509
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000102335 | Nonsense | 210 | 512 | 2 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 26794865)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 27132553 |
| GRCz11 | 1 | 27826267 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTGTGGAGTTTGCTAATAAACCTGCTGCCCGGAAGGCCTTGGACCATTG[T/A]GCAGATGGGGCCCTTTTACTTACAACGTAATAACTTTTCTTTTTTAAAGG
Long Flanking Sequence:
ACTAATCTGGTCCAATTTAGCCACAAAACCTCCAACAATTAATTGGCCAGTGTTTCAGTTTAATGTCCAACCCCTGTATATGCAAATTTGTACATTTGTAAAATGCATTTTATTTACTAGTTACTTGGCATTGAGAAATCGGAATGAGTTTAGATACATAAATTTGTAAATAGTTTCCAGTGTTTAAGTAACCATATTTGAATTTGCCAACTTTTTATTATTCAGGAAACAAGAACATTAGCAGAGATTGCTAAAGCTGAGTTGGATGGAACAGTACTTGGAAACAGACCCATTCGTATTCGCTTTGCAACTCATGGGGCTGCCCTTACAGTACGAAACCTTTCTCCAGTAGTGTCCAATGAGCTTCTTGAACAGGCCTTCTCACAATTTGGCCCAGTTGAGCGGGCAATTGTGATAGTTGATGATCGAGGCCGGCCCACAGGCAAGGGGATTGTGGAGTTTGCTAATAAACCTGCTGCCCGGAAGGCCTTGGACCATTG[T/A]GCAGATGGGGCCCTTTTACTTACAACGTAATAACTTTTCTTTTTTAAAGGTTCATTCATTTATTTATGTTTGTTTGTTTTTTTGCATGAATCTGTATTTATTTTTGGTCCTCAGGTCCCCTCGTCCAGTCATTCTTGAGCCAACAGAACAATATGATGATGAAGATGGGCTACCAGAAAAGCTGTTACAAAAATCTGCACAATATCACAAGTATGTCTTGAAATCATTGACGGTCCTTGTTTTCCATTATGCTTCAATCATATCTAAAGGGTAAAAATTGTCTTTTGTACATTTTTAAACTAAAAAACATCAATGAACTAATACAGGGAAAGGGAGCATAAGCCACACTTTGCACAGCCAGGCACCTTCGAGTTTGAGTACTCTTCTCGCTGGAAAGCACTTGATGAGATGGACAAACAGCAGAGGGAACAAGTAGAACGGAACATACAAGAAGCAAAAGAGAAATTGGAGACTGAAATGGAGGCTGCCAAACAAGAACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39624
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000102335 | Essential Splice Site | 219 | 512 | 2 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 26794893)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 27132581 |
| GRCz11 | 1 | 27826295 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCGGAAGGCCTTGGACCATTGTGCAGATGGGGCCCTTTTACTTACAACG[T/C]AATAACTTTTCTTTTTTAAAGGTTCATTCATTTATTTATGTTTGTTTGTT
Long Flanking Sequence:
CCTCCAACAATTAATTGGCCAGTGTTTCAGTTTAATGTCCAACCCCTGTATATGCAAATTTGTACATTTGTAAAATGCATTTTATTTACTAGTTACTTGGCATTGAGAAATCGGAATGAGTTTAGATACATAAATTTGTAAATAGTTTCCAGTGTTTAAGTAACCATATTTGAATTTGCCAACTTTTTATTATTCAGGAAACAAGAACATTAGCAGAGATTGCTAAAGCTGAGTTGGATGGAACAGTACTTGGAAACAGACCCATTCGTATTCGCTTTGCAACTCATGGGGCTGCCCTTACAGTACGAAACCTTTCTCCAGTAGTGTCCAATGAGCTTCTTGAACAGGCCTTCTCACAATTTGGCCCAGTTGAGCGGGCAATTGTGATAGTTGATGATCGAGGCCGGCCCACAGGCAAGGGGATTGTGGAGTTTGCTAATAAACCTGCTGCCCGGAAGGCCTTGGACCATTGTGCAGATGGGGCCCTTTTACTTACAACG[T/C]AATAACTTTTCTTTTTTAAAGGTTCATTCATTTATTTATGTTTGTTTGTTTTTTTGCATGAATCTGTATTTATTTTTGGTCCTCAGGTCCCCTCGTCCAGTCATTCTTGAGCCAACAGAACAATATGATGATGAAGATGGGCTACCAGAAAAGCTGTTACAAAAATCTGCACAATATCACAAGTATGTCTTGAAATCATTGACGGTCCTTGTTTTCCATTATGCTTCAATCATATCTAAAGGGTAAAAATTGTCTTTTGTACATTTTTAAACTAAAAAACATCAATGAACTAATACAGGGAAAGGGAGCATAAGCCACACTTTGCACAGCCAGGCACCTTCGAGTTTGAGTACTCTTCTCGCTGGAAAGCACTTGATGAGATGGACAAACAGCAGAGGGAACAAGTAGAACGGAACATACAAGAAGCAAAAGAGAAATTGGAGACTGAAATGGAGGCTGCCAAACAAGAACATCAACTAATGATGATGCGACAAGGTATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19510
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000102335 | Essential Splice Site | 317 | 512 | 4 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 26795390)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 27133078 |
| GRCz11 | 1 | 27826792 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAATGGAGGCTGCCAAACAAGAACATCAACTAATGATGATGCGACAAGG[T/C]ATAGTGCAGATTTAGAACATCAACCAGTTTATTTTGTTTATTGCAATATT
Long Flanking Sequence:
ACGTAATAACTTTTCTTTTTTAAAGGTTCATTCATTTATTTATGTTTGTTTGTTTTTTTGCATGAATCTGTATTTATTTTTGGTCCTCAGGTCCCCTCGTCCAGTCATTCTTGAGCCAACAGAACAATATGATGATGAAGATGGGCTACCAGAAAAGCTGTTACAAAAATCTGCACAATATCACAAGTATGTCTTGAAATCATTGACGGTCCTTGTTTTCCATTATGCTTCAATCATATCTAAAGGGTAAAAATTGTCTTTTGTACATTTTTAAACTAAAAAACATCAATGAACTAATACAGGGAAAGGGAGCATAAGCCACACTTTGCACAGCCAGGCACCTTCGAGTTTGAGTACTCTTCTCGCTGGAAAGCACTTGATGAGATGGACAAACAGCAGAGGGAACAAGTAGAACGGAACATACAAGAAGCAAAAGAGAAATTGGAGACTGAAATGGAGGCTGCCAAACAAGAACATCAACTAATGATGATGCGACAAGG[T/C]ATAGTGCAGATTTAGAACATCAACCAGTTTATTTTGTTTATTGCAATATTATGAAGAAAATACTTGAGTATTTCAAAATAATGTTAATTGCTTTTAAAGGCAATTAGGATTTTTCTATTATATTATTACTGATTAAGACAAAAGAGATGAGTATGCAGTGACGGTGATATTACATAGTAACTGTGCGGTCACATGTAGCTCTTTAGAGAATGTAGTGCTTATGTTCTTAAATTAGTCAATTGTAATATTTGTTGACTTAAATCAATAGATCTCATGAGACGTCAAGAGGAACTACGGCGCTTAGAGGAGCTCAGGAATCAGGAGCTACAAAAACGCAAGCAGATTGAGTTGAGGTATGCTTTTTTACCTTTTTCAGCAGAGCCCTTTACTGCAGAAGGCATGGACAGAAAGTTAGGATTACTTTTATTAAAATTGTATTTATTTAAAAAGCATGTAAAGGCTAAAATGAGCACCTAACTCGTTGATTTTGGAGAAAATCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45073
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000102335 | Nonsense | 446 | 512 | 9 | 9 |
Genomic Location (Zv9):
Chromosome 1 (position 26829649)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 27166809 |
| GRCz11 | 1 | 27860523 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTGCCACAATGTACCAATTTATGTTTACACTTGATTACAGCCTAATGAG[C/T]GATTTTCTGAAGGAGGACCCCTTCAAATGGGTTCTCCTGTTGGTGGGCAG
Long Flanking Sequence:
TAATGCCTAATATATGACAATAGGACATGCAATGCTAACGAAACATTTCTAGAAAGGAAAAAAAAGCAAAAGCAGCAGATTACAAAATTAAAGCAAGAGTTTCATTTTCCAAGCTGTATTCTTTAATAGATTTTTCAGTGTGCATTTTATATTGCAGTTGTTTTGTTTTTAATTAAGGTATATTCCTCTGGGATTTTGATTAGATTTTTTGATGTTATTGTTCTTGTGTAGATAATACAGGATTTGCTTTTCTTTATATACATGTGCTAATTATGTTTTTTTTTCTTCTTTTTCTTCTTCTGGGTGTTCCTGATCTTCACTTCTTGTCTTACTTATGTGTTAAACCTTCTGGGGAAAAAACAAAACATATTTGTTAATATTTCGGACTTATTGTTTTACAACAACTTAACTACTTCATGGTCGATTTAAAATTACAACATATTCCAAATGCTTGCCACAATGTACCAATTTATGTTTACACTTGATTACAGCCTAATGAG[C/T]GATTTTCTGAAGGAGGACCCCTTCAAATGGGTTCTCCTGTTGGTGGGCAGACTGGTGTTGACTCCCCTCAGCCACAGCAACACTCACCCATGCTGGTTGGGGCAGGTTCTGTTCCTGGTGTGCTTGGCCAAAGTGGCTTTGGGAGAGGAAGTCCAGTTGGGGGCAGCTTTGATGGGCCTAACAACAAACGACGTAGATATTAAAAAAATAAATAAATCTTTAGTAATTGTGCTCAGATTGGATTATTCTGACTCATGATTACTTATATATAATCATATATTACCTTTCAGTCATTTTGACAAGTACATTTATGTATAATATAGACATAAATTGAATGAGCCAGACCTTGTGTAAATGTGAAGCACTGTTACAAATGATTAAAAGCCATTGAATTAGCTTGTACTTTGCAAAATATTGTAGCTAATTGTAGATTGCTTACTATTACTGTATTCATGTCTTTTATTTAAATATCTGAAACTAAGCAATGTTTTCCTGTGAAT
Associated Phenotype:
Not determined