ZMP
pacsin1a
Ensembl ID:
ZFIN ID:
Description:
protein kinase C and casein kinase substrate in neurons 1a [Source:RefSeq peptide;Acc:NP_001018374]
Human Orthologue:
PACSIN1
Human Description:
protein kinase C and casein kinase substrate in neurons 1 [Source:HGNC Symbol;Acc:8570]
Mouse Orthologue:
Pacsin1
Mouse Description:
protein kinase C and casein kinase substrate in neurons 1 Gene [Source:MGI Symbol;Acc:MGI:1345181]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31081 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa31081
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000040086 | Essential Splice Site | 199 | 260 | 5 | 6 |
| ENSDART00000057422 | Essential Splice Site | 200 | 439 | 4 | 9 |
| ENSDART00000134830 | Essential Splice Site | 199 | 438 | 4 | 9 |
| ENSDART00000143731 | None | None | 163 | None | 5 |
The following transcripts of ENSDARG00000032865 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 23 (position 3677999)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 3721374 |
| GRCz11 | 23 | 3664277 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAAAAACTCCACGAGAAGACTGAGAAATGCAAACAGGATGTGCAGAAGG[T/A]GCGGAAAACTGGCCAAAATACAGAAACTAATTAAAGTTGCATTCGCTTTC
Long Flanking Sequence:
TGTCAGTATTAGATGTGAGCTGACGTCAATATTAGACAGCAAATTGATGTTAAATTTTGGTCACCTGATGTCGCAACCAAATTAGAACTAAAGATCAATGTCATATGATACCTGCTGGGGAAGGTGACATTATTTTGATACATTATTTCATAAATTATGAATTTTTATTGTTTATTTAACTATTCCTTTAAATTAAGATTATATTTTACCATTCTCCTGACCTCAGAACTGGGCATGATCTTATGATAACAACAGTTTCTGTTATATTCAGCAACCATTGCCCAGGTTTATCCGTTGAGCTGCATTGTTGCTGTTACGTAGTTAAAGAGATTGGTGTCTGCCTGTGTGTTTGCAGATGGAAACAGCCAAGAAAACCTACCACATGGCCTGTAAAGAGGAGAAGCTGGCTGCATCCCGTGAAGCAGATGCATCGGTCACTCCTGACCAGCAGAAAAAACTCCACGAGAAGACTGAGAAATGCAAACAGGATGTGCAGAAGG[T/A]GCGGAAAACTGGCCAAAATACAGAAACTAATTAAAGTTGCATTCGCTTTCCAGCACAAAGAACTATTGATAGACTTTCAGGCCAGTTTTAAACTTTGAGTTGTGTTTTTCCTGACTGTGAATGTGGTCCGAGACATTCAAATGTTGTAAAACATTTCTATATAGGCTTAATATTGAGTAGCATTGCAGGTCATCATGACACAACTACAAAACTCTGTGTTGTGCAATCTTCTTCACACTTGAAACAACACAAACAACGCACATGTCAGTGCATGTCAAAACTTCTCCATGGCCCCAAAACACCCTTAGACCCCTGGGGGTTAATGAAAACATACCTTAAACGTGCCGCTTTTGTAACTGTGTACAGTTTACATGAGGCACTTAACCCAGGTTACTGACAAATTAAAAGTCCTTTAGCATACTTCCGCAAATACCCTATTGTAAAGCTTTCTATAGAAAATATTTATTTAAATAAGAGATTTGTGTGTGTGTAGCAGTGCG
Associated Phenotype:
Not determined