ZMP
plce1
Ensembl ID:
ZFIN ID:
Description:
1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1 [Source:RefSeq peptide;Acc:NP_0
Human Orthologue:
PLCE1
Human Description:
phospholipase C, epsilon 1 [Source:HGNC Symbol;Acc:17175]
Mouse Orthologue:
Plce1
Mouse Description:
phospholipase C, epsilon 1 Gene [Source:MGI Symbol;Acc:MGI:1921305]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa22015 | Nonsense | Available for shipment | Available now |
sa14377 | Essential Splice Site | Available for shipment | Available now |
sa41951 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa27871 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa41950 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa22015
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000125067 | Nonsense | 56 | 1193 | 1 | 12 |
Genomic Location (Zv9):
Chromosome 12 (position 5606183)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 5216855 |
GRCz11 | 12 | 5251812 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGATGCTCGTTTATTAATGAACTACAGTTTGCCTGGGGGCACACCCCCT[C/T]AGACACCAGTACATTTGGAGGGGGACTCAGTGGGCACAGTGTGCAGAATA
Long Flanking Sequence:
ATGTTTTAGTTTGCCGTATTTCTTTACTGATTCAGGGAATATATGCAGGTCACTGTAAATGCTGTGTGGTAAGAGATGTTGTTTATTGATATGTGTTTTTCTTCTGGCTTTCCCTCTTGTCTAGTATTCTCAGCATCTTAAGGCCTTGAGACAAGAAGTTAAATCGAGAAGGACAAACAACTTGAGAAGACACAGCTGTCATTTTCTCAGGCAGCTTCTTCTTCAGACAGACTCAATGATATGCTCTTCCTGATCCTGAGGCCATCTTCTCTAGCCAGATGTTTGTCCTCCCTGTAAGTTGAGCAAGAAGAATCTGACATCGGGCGTCCAGTGATATGAGGCTTCATGTTGAGAGACAAGCGCATATTGGCATCAAGAGCTCCATGGCCTCCAATAGGGCTTCGCCTGTACTGGGAGTGAAGAGTCTTGGTAAGGAGACTTCAAGTAATGGAGATGCTCGTTTATTAATGAACTACAGTTTGCCTGGGGGCACACCCCCT[C/T]AGACACCAGTACATTTGGAGGGGGACTCAGTGGGCACAGTGTGCAGAATATGGAAGTCTTTGGATATCAGGTCTAAGAGTTTGGATTGCTTAGATGAGACCTTCAGGTCCAAAAACTGCAGCTGTGAGGCTATAAGGCACAGGGAAGAAGGATCCTACAATTTCCATATGTGTGGGTTTTGTGATTCAGTGGAAAATGCAGAAGGCTGCCCGAAGAATACTTTTTCTCCTAGAAGCTGGGGAACGGTTCCCCAAAAGAGGAAAGCAGAAGCTTTTTCTTCTGGTATTACTTCCCTTGATGAACCTCGACCAACATTGAGTGGCTCAGATGGGGAACTGTGCCCAAAGGAATTAGTCATCAGCCAAAACATGGAGAACCTGCCTTTCTGTGGGTTGGATTTGAGGAGAAGCAGTGTGCCAGTATCCACACCACAAGGCCCTCAATGCGCCAACGGTTGCGGCACTGCCGAGAATAATAAGATGCGAAACAGACTGGACTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14377
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000125067 | Essential Splice Site | 446 | 1193 | 2 | 12 |
Genomic Location (Zv9):
Chromosome 12 (position 5550197)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 5272841 |
GRCz11 | 12 | 5307798 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCYCTGCCCRGCTTCACTGTTGGCTCCACAGGACGAGCAATGCTGAAAG[G/A]TAAAGAAATGTACYACTTTTCTGTCTAAMTGCTGCTTTAAAATTKAACAA
Long Flanking Sequence:
TTTGTGTGTGAATGAGTGTGTATGTGTGTTTCGCAGTGTTGGGTTGCAGCTGGAAGGGCATCCACTGCGTAAAACATATGCTGGATAAGTTGGCGGTTCATTCCACTGTGGCGACCCCTGATTAATAAAGGGACTAAGCTGAAAAGAAAATGAATAAATCTTTATTTTCACATTCTTTGATGACTCTAATTGAAGTTTAGTTGCTCTTCATCTGCAAGCTAACGTGGTTTCCTACTGTCTCTGTTCTCTACAGATTGATCATGCTGCTCCTACTTTGAGTCCTGAAGTCAGTCTCCTGCACAGATCCAGGAAGCTGCTGGCCCAGGCGGTGTCATGGCCGCCGGTCTCACCGTCGCAGATTAGATTTCGGGCTTGTCATCGCAGAATCAGCATTGCAGCCCATCTGAGCGGGGCCCTGCTGGAGGCCACAGCTGCTCTTGGGGCCCGCACTTCCCTGCCCAGCTTCACTGTTGGCTCCACAGGACGAGCAATGCTGAAAG[G/A]TAAAGAAATGTACCACTTTTCTGTCTAACTGCTGCTTTAAAATTGAACAAAGGAATGCACACTGACAGGAAAGCTTTTAGTAAAACTTGGAGTCGAGAAAATGTATCTCACGTACAATTCTGTGACATGACAAACAGAGGAAAGGACTGTGCCATTCCAACTGTCCAATGGCAGGAATACACAAATAGTGAAGTTTGATCTGTAGTTTCATCACTACAAGACAAACAGAATGTGCTTTGCATCTTTTGCTGATGAATAAATGGTGAAATCAAGGTGTAGGTTGCGCACAAAGAGTGTACATTTGTTTTTGTGTATATCTATGTAAACAAATACACACAAATAAATTGTATAAATATATTCACATGCGACATATTTGTAGTATAAATTATAAATGTGCATTAAATGAAACAAAGATAACGTCTTATGCATTGTATAGACCAGTTTAGTGGCAAACTGTAGTTACAAGTAGTGCTCTGTTGTCTGTGGACGGGAATGCAAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41951
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 |
---|---|---|---|---|---|
ENSDART00000125067 | Essential Splice Site | 687 | 1193 | 5 | 12 |
Genomic Location (Zv9):
Chromosome 12 (position 5512741)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 5310297 |
GRCz11 | 12 | 5345254 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATTATTGGACTGCGTCCGTCTTTTGATTCTCAAGAAGATCCTGTTGAGG[T/C]GAGGCACTTCTATGAAGTGATTATGGCTAATGCAGGAAATTATATCACCA
Long Flanking Sequence:
ATAGTGTTGCTAAACCTTAAGGGTCTGCAGGAACCCTGATCTTCATAACACTGTTTTTCGTTCAAACGCCAATAATAAGATCTTTTATAAGAGTTTTGAAACTGTTGTTTGATGGCACAACTATATGTGAAAGGATCAAAGGAAATTAGATGTTTTATGACCATTTAAAGAGATCTTGAGGAATATACAGTGCCCAGAATTACTTCTCTGATGTTTTGCTCACCACTTATTTCTCCCCAGGTCCCGCAAAGTGCTGAAGATGTGGCAGTTTATGGATCAGGCAGATATTGAGACCATGCGAGGTCTAAAGGATGCCATGGCCCAGCACGAATCATCATCTGAGTACAAGAAAGTCGTCAGCCGTGCCCTCAATATCCCAGGATGCAAAGTGGTGCCTTTCTGTGGCGTGTTCCTCAAGGAGCTGAGTGAGGCTCTGGATGGCGCGGCCAGCATTATTGGACTGCGTCCGTCTTTTGATTCTCAAGAAGATCCTGTTGAGG[T/C]GAGGCACTTCTATGAAGTGATTATGGCTAATGCAGGAAATTATATCACCACAGACGAATTTAATCGCCTTTTACAGTTACAATAATAATCTTAAGACCATTTTGGCTAGCTGGAGCAATTACATTTTCATCAAACATTTAATAAGCCTGCTGAATTGCTTCCTGGTTTTACAAATAAAACACTCATTAGAGTGATTTAGCAGAGGAAAAGACATTTTGTCACTGCGGTGACTGATAAATCACCCATGAAAGCTTTTAAAGCCCACACATCTACTTGCACTGTCTATAACTGTGGTGGTTTTCTTTTGTGTGGAATCTCTGTGGCGAACTGCTCTTTACCTTGCATAGTTTGTCACGGACTACAACGGCCAGCAGCACTTTCTGCAGAGGCTTGGAAGTGATGGACTTCACAGCTCAGATAAAGAGGCGACCGTCAGTAACATACTGCAGACCATCCGCAGCTGCAACCGAAGCCTGGAGGCTGAGGAGCCTGAGGAGAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27871
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 |
---|---|---|---|---|---|
ENSDART00000125067 | Nonsense | 764 | 1193 | 7 | 12 |
Genomic Location (Zv9):
Chromosome 12 (position 5508748)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 5314290 |
GRCz11 | 12 | 5349247 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTACCTTCTATCCTTAATGTCCACTCTGAAGGAAAGGACCTGGGACTGAA[C/T]GAGTCCTGTAAGTTGCCAGAAAGATCTGTTTTAAAGCACTTAATGGATTG
Long Flanking Sequence:
AAAGTTGTTCATTCCTTTTAGAGCCCTCTCTTTAGCTTAACTGAAGTATATTCCATGAAAAAACATTCATGTGCTCATGGCATAGAACATGTTGTTGTCATGAGATGGTTTAAGCATTATTTTAAAAATTGAAAGCAGAGTGGTTTTAGTTTGTTTGTCCTGCTGAAGAGGAAGGGGCTTGTATTAGTGGTTGAACTCTGACTGAGTTTAAACTTTCTGGACAATCTCATTGTAGATAACAGCCTTCTTGTCTTTTAAGACACTTCATCTTGAGCTGCCTAGGTTTGATATGCTTATTTTTTTCTCTTCCAGTCACAAGACTACTTGATAACACAAATGTAAAGTTGAGCTTGCTGTTTTTTTGCGTGCAGATCAACTCCTAGATTTCCCCCCAGCATGACACTTTAATTTCTCAAACTGCTACTTTCTGTTTGTTTCTTCTATTCAATTCTACCTTCTATCCTTAATGTCCACTCTGAAGGAAAGGACCTGGGACTGAA[C/T]GAGTCCTGTAAGTTGCCAGAAAGATCTGTTTTAAAGCACTTAATGGATTGATTTTGAAGTGATAATGTTTGCATATAGGTGTGTTTGCTTTAATAAAATGCATGCAAATGATGCTCTGAGCTCTGACATTAACCTGACAAGAGACAACGTGTTTACATAAACCAACTAATCAGACTACCCATTTTTTAAATAAAGATTTTTTCCAGGATTCATTCTGAACACAAAAGCAGGCAGCCATTAGGAGGTATCAGATTTTTAAAAATCCTCTGCAGCCTCATCTTGCGGTTGAAGTAATTCTTACCTTTATTATTCTCACTTTTATATACTGCAATCTTGTCTGAGACCACAAATCAAGACGTATATCTTCACCAGGATACAGATTAAATGAGATTTGAATCACAACTCCTTTTAAACAGAGATAACACTTCCTGCTCAGTGCATGAAAATAGAGCAGTTCAACTCACAGCATTGTTTTAACAGCTCCTTAAAGGGAGCGTTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41950
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 |
---|---|---|---|---|---|
ENSDART00000125067 | Essential Splice Site | 1052 | 1193 | 9 | 12 |
Genomic Location (Zv9):
Chromosome 12 (position 5500685)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 5322353 |
GRCz11 | 12 | 5357310 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACTGGGCATCAACTCCAATGTCAAAAAAAAGAAAAAGGCCTTAGTCAGG[G/A]TGAGTAGAGAAGCACCGCGAGGCAACAGTGTGTTTTTTTTTTTTCTCGCT
Long Flanking Sequence:
AGGGAAAGGCGCGACACATCATATTTAATATTGTTTTGTGTTGATGTCGATACGGGCAGGCAAAAATCCAGACAAACAACGAATCATTTAATCTCTAAGTTAAATATTTTATTTTAAAAAATTGTGTTTTTAAACTAGGTGCACTTTTGCTTTTAAACATCTGCTGGATGATTTCATTCACTTGGAGCTGTGTTATACACTGCATGGATGGTCATTTTCAAAAACCCATAATAGGGGCTCTTTAAAGATGGCTTTTATATATTGTTGTAAAACATAATATATTGTAATATATTGTTTTTTTGTTTTTTTTTTAGGAGGATGGTAGATTTGAAGGACCTACACTGGCTCATGCTATCGAGCTGTTCGGAGGGAGACGCTGGAATATGGGAACTAGCGGCCCTGGATCCGCCAGCAGAGGTGCAGAGAAGAACTCGGCTCAGAAGAACAGTCCACTGGGCATCAACTCCAATGTCAAAAAAAAGAAAAAGGCCTTAGTCAGG[G/A]TGAGTAGAGAAGCACCGCGAGGCAACAGTGTGTTTTTTTTTTTTCTCGCTGGGTTACATCACTGTTGTGTCCACAGGGGGACAGTGGCGATGGAACTGATGATGAGATGACCGCACGCAAGACCAGGAGTTGCAAAGAGACTTTGGGGAGGAGAGAGTCAGATGCTCTGGAAAATGTTGAGCAGGAAGAGGCTGGTAAGATTTTGTGTTGCTGATTTTTCTGTCATCGTTTTTGAAGATTGCTGAGAATGGCATCTATTCCAGCTAAATTACCAGCAGTTTTCTAGAAGACTTTAGTGTGTAAATAAGTGATTTTGGGATGTTTTAAAGGGTTAGTTCATTTAAAAATCTGTCGGGACACAAATAACAATATTTTAGATTAAATCTGAGAGCTCTTTCATAATACATACACATCTATGGTCCTGAGATGTTCAGAAAACATTGTCAAAACAACTGTAATCGTACGAAGCTCCAAAATCAACTGTAAATTTGACTCATCAG
Associated Phenotype:
Not determined