ZMP
PLCB1 (2 of 2)
Ensembl ID:
Description:
phospholipase C, beta 1 (phosphoinositide-specific) [Source:HGNC Symbol;Acc:15917]
Human Orthologue:
PLCB1
Human Description:
phospholipase C, beta 1 (phosphoinositide-specific) [Source:HGNC Symbol;Acc:15917]
Mouse Orthologue:
Plcb1
Mouse Description:
phospholipase C, beta 1 Gene [Source:MGI Symbol;Acc:MGI:97613]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37190 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa43555 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37190
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 |
|---|---|---|---|---|---|
| ENSDART00000099268 | Essential Splice Site | 67 | 403 | 2 | 11 |
Genomic Location (Zv9):
Chromosome 20 (position 55146771)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 54999643 |
| GRCz11 | 20 | 54830007 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAACCTGCTGGCCCAGAACCTGTCCAGAGAGTCCAGTCTGGAGAAAGTG[T/A]AAGTGTCCCGTTTCCTCCTCTGTTTTCACCCCACACACACTCTCAGGTGA
Long Flanking Sequence:
GTGTGTGTGTGTGTTGTGCAGTATGCTGTGCAGTGTGTAATGTGTGTGTGTGTATGTCTGTATGTGTGTGTGTGTGTGTGTTGTGCAGTGTATAGTTTGTGTGTATGTGTGTTACTCTTGTCTGATTTGGTGTGTGTGTGTGTGTGTGTCCTCCTCAGGATGTGCGTCTGCGTGAGCAGCTGGATGTGGGGGCTCTGCAGGGTCAGATGGAGGATCGGCTGCTGACGGTGGTCTGTGGATCAGACATGGTCAACATCAGCTTCCTCAACTTCTGCGCCTTCCATGAGGACGTGGCCAAGGTGAGGTCTGCGCACACACAAACACACACACACACACACACACACACACACGTTCGCAGAGTGGATAACAGGGCATGTGCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCAGGAGTGGGCTAAAGAGCTCTTCACCCTGGCCTCAAACCTGCTGGCCCAGAACCTGTCCAGAGAGTCCAGTCTGGAGAAAGTG[T/A]AAGTGTCCCGTTTCCTCCTCTGTTTTCACCCCACACACACTCTCAGGTGACTAAAGTGAAAGTCTGTTCACTTGTGTGAGCATCAGCAGCACATCAGCAGTGTGTGCAACACACACACACACACACACACATTTGTCCTGCATGAATTATTTGCAGAGCGCCGCTGAATAGTTAACCACTGCACTTGCTGAACGGGGCTATTCTTAGAGTCCATACTGGAGCTGTCCGCACGCATCAGTGACACAGCTAAGCATTCTGGGGGAGACTGGAGCAGTGTGGGAGAGTACACACACACACACACACACACACACCTCACTCATACATCTGCCTGAAACCTTAACACCAGCAGAGTCCACTCTGACCCAGATTACTCTAGACCAGTTGCTTAAGTAAAAGAGGATGAGTGGCGAGCGTCTCGTCTGGATACTGGAATCAGCTGAACAATTCACGGACCACCAGAGTCAGGTCATGGTCTTTAGCCTCCTTGGTAGAGCAACTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43555
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099268 | Nonsense | 247 | 403 | 7 | 11 |
Genomic Location (Zv9):
Chromosome 20 (position 55139556)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 54992428 |
| GRCz11 | 20 | 54822792 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCACACAGCCGCTCTCACACTACTTCATCAACTCTTCACACAACACCTA[C/A]CTCATAGGTCAGCCAATCACACAACACCTGCCTCATAGGTCAGCCAATCA
Long Flanking Sequence:
CAAACACACCTCCATATCTGAACACTGAAACTGCCCAAACACACCTCCATATCTGAACACTGACACTGCCCAAACACACCTCCATATCTGAACACTGACACTGCTGCTCCTGGTGTTGAGGATGCAGAGGGCGGATCGGGAATTTCTCCTTTATTTTTACAGCACTTTATTCCTGTAAATTGTGTCAGAGAAAAGAAACATGACAGGATGATCAGGCAAATAAAGTGAGATGAGCACATATTAAATATACTGTATCACAGAGCTGTAGAAGAATGCTGATGGAGTTCTGGAGAGTTCTAGATAACTCATCCTGTTTACATTCTTTACACTGGGTAATTGGGCGGGTTGTTTTGTGGTGCAGGGCAGATCTCGGTGGAGGGATTCGCCAGATATCTGAGTGGAGAGGAGAACTGCATCATCCCTCCAGAGAAACTGGACCTGAGTGAAGACATCACACAGCCGCTCTCACACTACTTCATCAACTCTTCACACAACACCTA[C/A]CTCATAGGTCAGCCAATCACACAACACCTGCCTCATAGGTCAGCCAATCACACAACACCTCCCTCATAGGTCAGCCAATCACACGACACCTACCTCATAGGTCAGCCAATCACACAACACCTGCCTCATAGGTCAGCCAATCACACAACACCTGCCTCATAGGTCAGCCAATCACACGACACCTGCCTCATAGGTCAGCCAATCACACAACACCTGTCTCATAGTTCAGCCAATCACACGACACCTGTCTCATAGGTCAGCCAATCACACGACACTTGCCTGATGGGTCAGCCAATCACACGACACCTGCCTGATAGGTCAGCCAATCACACGACACCTGCCTCATAGGTCAGCCAATCACACAACACCTGTCTCATAGTTCAGCCAATCACACGACACCTGTCTCATAGGTCAGCCAATCACACGACACCTGCCTGATGGGTCAGCCAATCACACGACACCTGCCTGATAGGTCAGCCAATCACACGACACCTGTCTCA
Associated Phenotype:
Not determined