ZMP
mypt2
Ensembl ID:
ZFIN ID:
Description:
protein phosphatase 1 regulatory subunit 12C [Source:RefSeq peptide;Acc:NP_001071047]
Human Orthologues:
DYSFIP1, NRARP, PPP1R12C
Human Descriptions:
NOTCH-regulated ankyrin repeat protein [Source:HGNC Symbol;Acc:33843]
dysferlin interacting protein 1 [Source:HGNC Symbol;Acc:16813]
protein phosphatase 1, regulatory (inhibitor) subunit 12C [Source:HGNC Symbol;Acc:14947]
dysferlin interacting protein 1 [Source:HGNC Symbol;Acc:16813]
protein phosphatase 1, regulatory (inhibitor) subunit 12C [Source:HGNC Symbol;Acc:14947]
Mouse Orthologues:
Dysfip1, Nrarp, Ppp1r12c
Mouse Descriptions:
Notch-regulated ankyrin repeat protein Gene [Source:MGI Symbol;Acc:MGI:1914372]
dysferlin interacting protein 1 Gene [Source:MGI Symbol;Acc:MGI:1915951]
protein phosphatase 1, regulatory (inhibitor) subunit 12C Gene [Source:MGI Symbol;Acc:MGI:1924258]
dysferlin interacting protein 1 Gene [Source:MGI Symbol;Acc:MGI:1915951]
protein phosphatase 1, regulatory (inhibitor) subunit 12C Gene [Source:MGI Symbol;Acc:MGI:1924258]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa20692 | Nonsense | Available for shipment | Available now |
| sa31509 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20692
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 |
|---|---|---|---|---|---|
| ENSDART00000074256 | Nonsense | 324 | 672 | 9 | 21 |
| ENSDART00000136019 | None | None | 123 | None | 3 |
| ENSDART00000141673 | None | None | 139 | None | 6 |
| ENSDART00000145181 | None | None | 133 | None | 6 |
Genomic Location (Zv9):
Chromosome 6 (position 23287211)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 19542657 |
| GRCz11 | 6 | 21602879 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTTTAGTATTAATTTTGTGTCTGTTTATTTTAGTGGAGGACTGAACAA[C/T]AAAATTCACAGACATCAAATGTCAATCCTGCAAACAAAAAACGCAGGTGA
Long Flanking Sequence:
GCACCCATTTAAAATGATGTGCGAGCGTTTGTGCATTGTTTGTAAGTGTAAAATTCAATTTGAAAGTACAACTATGACAAACTCCATTACTTTTTAACACATCATTTAAATTAATTAAATAATATGTTGGCGGTTCATCCTGCTGTGACAAGCACAGATTAATAAAGCCACTAAGCCGTATAGAAAATAAATGAATGAAATAAAATGTTAAGTTAAGATTCGAAAGACTCTGCTTTGTACTGTATATTTAGAGTAAACTAACTTACTGTACCCTCTGATCATAGTGCAAAACGGTGTTGTTCCTTCTTAGACTTTTGCACTGGAAAACATCAAAATACTAAGGATCCATTTACTAGTCTTGTTTTCTGTGAGGCTGCCAATAGGTTTATAAAAATGAAAACTGAGAAGTTATTTAGAGAGGTTTGTTCTTGTTCTAAATGTACACTCACTTTGTTTAGTATTAATTTTGTGTCTGTTTATTTTAGTGGAGGACTGAACAA[C/T]AAAATTCACAGACATCAAATGTCAATCCTGCAAACAAAAAACGCAGGTGAGAATGACGATTAGTTTTTCAGGCTTTCTGTCATGAGTTGTTTTTTTTGTTACTAATGCATCTGTCTCTTAGGAGCTCTGTGTGCCGGATGAGCAGCAAGGATAAAATAAGCGTACAAGACCAGTCTAAAGAACGAGGGGTTTCTGGAGAACTGGAACTCAGTGATGAGAGAGAAAGCAGCCCAGGTTTGTCTTTCTTTCTTGCTCTCACATACAGAAACATCCAGAATATTCACACACATCAAACTCGCCTGAGTATGTGATTAAAGATGTTTTTCTTCTCTATTGTAGAAAGCTCAACAGTGTCATCTCCAGAGAGCACTGTTCCATCTTCTGGGGTAAAACACACTGCTCTATGCCTTTGATTTTAATGTCAAAACTCAAGTGATAAAACAGATACTGAGTGAAAGTTTTGCTCAATTATAAGGACAACAAGTATCTGGCTCAAAATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31509
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 |
|---|---|---|---|---|---|
| ENSDART00000074256 | Essential Splice Site | 559 | 672 | 16 | 21 |
| ENSDART00000136019 | None | None | 123 | None | 3 |
| ENSDART00000141673 | None | None | 139 | None | 6 |
| ENSDART00000145181 | Essential Splice Site | 38 | 133 | 2 | 6 |
Genomic Location (Zv9):
Chromosome 6 (position 23282113)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 19537559 |
| GRCz11 | 6 | 21597781 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATGATGATATGGATGCAAATGAAGATGCACAACAAGACAACAATGCAAG[G/A]TTTGATATGTTAATGTTTGTGTGCATGCGCACGTGTTTGTGTGTGTGTGT
Long Flanking Sequence:
TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTTAGTTCTTCAGTGGAATGTAATGATTTTTTTTTTTCGTTAATCCAATCATAATGAAATTTGTATAGCTATTCTGAGTTTTCTCCCTGCATTAGACACTGATCCGGAGAGGGAATCTTTAGAGGCACAAACAAAACTAGGAGTGAGAGATCGCAGAAAAGGGAGGAAAGAGAGACGCTCGACTGGTGTTGTTCAACTTGCTGAAGAGGTGAGCTGTGAATATGTATTAAACTCCAGTCTATTATCACTCACACTCAGTGGGCGAGGATTTAATAGGTAACTTTATTACTTTGTTATAACTTTTAAATTGAAGTTTCAAAAGTTAATGCCACTAGTGGTGAATTATTTTAAACAAATGTGTAAAAACTGACATTTATTGATATTTTACTTTTGTTCAGAATGATGATATGGATGCAAATGAAGATGCACAACAAGACAACAATGCAAG[G/A]TTTGATATGTTAATGTTTGTGTGCATGCGCACGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTCTGTGTGTGTGTGTGTGTTTTAAACATTTGTACATCAACTAGTTTATAGCCCCCTTTATATATGTACCTGGACCTAAAAATGACTGCTTAGAGGAATATTTATGAATCAGGATGAATATTTGGGGTGGAAGTTCCCCTCGCTTTTATTTTTCTTTGTCCAGAAACAGTGGTGAGCTATTTATCCTCCATAGCTTTCTGGTCGCCTTGCTAAGAGTGTCACACACTGTGGTACTTATTAAAAACGTATTAAAAATAATATGTTAAACACATTAACAGAGATAAACATTGCTCATTTCTACAAAATGTAAATAAGTTGCTAAAATCATTTTCGTTAAAATGATTCCATTTCAATAGTAATCAAAGTCTAGACCATTACGCCCCATTCACACAGGGCTTCAGCGTCAATGCTTGACAGAGGGCGTGTCTGAAG
Associated Phenotype:
Not determined