Busch Lab

ZMP

mypt2

Ensembl ID:
ENSDARG00000052423
ZFIN ID:
ZDB-GENE-010724-11
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]
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]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa20692 Nonsense Available for shipment Available now
sa40683 Nonsense Mutation detected in F1 DNA Not yet available
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.
Availability:
Order Allele From ZIRC
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:
sa40683
Status:
Mutation detected in F1 DNA
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
ENSDART00000074256 Nonsense 516 672 15 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 23282434)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 19537880
GRCz11 6 21598102
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTTCTCCCTGCATTAGACACTGATCCGGAGAGGGAATCTTTAGAGGCA[C/T]AAACAAAACTAGGAGTGAGAGATCGCAGAAAAGGGAGGAAAGAGAGACGC
Long Flanking Sequence:
GTCAAAAACTTTCATATTTCAGTACGTCTTTTTTAAGAATGTAAAAACTTAATTTATTATTTTTAATTTTTAAATGGTAAACTTACTATTTCTTTTTACTGATATTAAAAGATTCTTAAAATTCTGATTATCAGGGAGTAACACTGACGGATCTTAAGGAAGCAGAACGAAGTATTGTGAAGGACAATGAACCTCAGCATGTCAGTGTTCAGCCTGTGAGCCCCAATGTCACAGTGACACCAGCTGAGAGAGGTGAGTCTCCGTGCTTTCAGCTTATTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTTAGTTCTTCAGTGGAATGTAATGATTTTTTTTTTTCGTTAATCCAATCATAATGAAATTTGTATAGCTATTCTGAGTTTTCTCCCTGCATTAGACACTGATCCGGAGAGGGAATCTTTAGAGGCA[C/T]AAACAAAACTAGGAGTGAGAGATCGCAGAAAAGGGAGGAAAGAGAGACGCTCGACTGGTGTTGTTCAACTTGCTGAAGAGGTGAGCTGTGAATATGTATTAAACTCCAGTCTATTATCACTCACACTCAGTGGGCGAGGATTTAATAGGTAACTTTATTACTTTGTTATAACTTTTAAATTGAAGTTTCAAAAGTTAATGCCACTAGTGGTGAATTATTTTAAACAAATGTGTAAAAACTGACATTTATTGATATTTTACTTTTGTTCAGAATGATGATATGGATGCAAATGAAGATGCACAACAAGACAACAATGCAAGGTTTGATATGTTAATGTTTGTGTGCATGCGCACGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTCTGTGTGTGTGTGTGTGTTTTAAACATTTGTACATCAACTAGTTTATAGCCCCCTTTATATATGTACCTGGACCTAAAAATGACTGCTTAGAGGAATATTTATGAATCA
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.
Availability:
Order Allele From ZIRC
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