Busch Lab

ZMP

PDE1C (2 of 2)

Ensembl ID:
ENSDARG00000067683
Description:
phosphodiesterase 1C, calmodulin-dependent 70kDa [Source:HGNC Symbol;Acc:8776]
Human Orthologue:
PDE1C
Human Description:
phosphodiesterase 1C, calmodulin-dependent 70kDa [Source:HGNC Symbol;Acc:8776]
Mouse Orthologue:
Pde1c
Mouse Description:
phosphodiesterase 1C Gene [Source:MGI Symbol;Acc:MGI:108413]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa37923 Nonsense Mutation detected in F1 DNA Not yet available
sa37924 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa7310 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37923
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
ENSDART00000097488 Nonsense 13 487 1 25
Genomic Location (Zv9):
Chromosome 24 (position 33559692)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 32438710
GRCz11 24 32353353
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCTAATCGAATTGTCTTTTTCCATTTCAGACTGAGATGTTTGGTGAAG[C/T]AATTGGAGAGAGGGGAGGCTTCTGTTGTCGACTTGAAGAAAAACCTAGAA
Long Flanking Sequence:
TAATTGTTGAACCCAATTTTGAATGACTTTCTCAATGTTAATTTAGAAATTATTGATATTAAATACACACTGTTTTAAAACTACAAACATGGTTGTACTTGTCAGTGTTAAAACTGTAAGTAAAAAAAACATATTTAAGTTTGTCAGCTATCTACTATAATAGTGTAGTCAGCATTCACTAACAACTCTGAGCCCAATTTAAATTTTCTTTCATTTCAATGTTATTTGCCCACCGAACGTCCATCTTTTTATCCATGCTTAACTCCCAAATTTAGTGATGACATTAGGGATACGTTGCTTATTTGGTTACAGTAGAAATGTCCAAAATAATAAAAATAAAATGCAATGTTTTGGAACAAACATTAAGAGTGTTATATGTTTTCAGTTTTTTTTCTTCACTGTCTTATGCAAAAGATACAAAAGGCCTATTAAATCCCCAAAATATCTTTTTTCCTAATCGAATTGTCTTTTTCCATTTCAGACTGAGATGTTTGGTGAAG[C/T]AATTGGAGAGAGGGGAGGCTTCTGTTGTCGACTTGAAGAAAAACCTAGAATATGCTGCATCCGTGTTGGAGTCCGTCTACATCGAAGAAACGAGGTAAACACAAAACAAAAGAGAAAGAGAGAAAAAAAAGAAGCAAAACTGCATAGTGCACTTATAAAAAACTGAATTTTATTGTACAACGGTGTGGAGACTAATGTAATTATTATTATACCTTGATTGCATACGTCTTTGAATGTTGTATGCTATGTTAAATGCCCAATATCTTACAAGAACACCCAGTGATAAGATATAATAATAACTATTAAATATAAGCCTTCATTTAAACAGATGATTGTGGTAATGGTAACGGAATGCATCTGTAGGTATATATATATCTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTGTGGTCTTAATTTGGCCACAACTTTCTCTGTGTTTCAACAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37924
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097488 Essential Splice Site 129 487 4 25
Genomic Location (Zv9):
Chromosome 24 (position 33565697)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 32444715
GRCz11 24 32359358
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATAACATAAATATGCAGCTACTCTGAATATAAATGTATTTTAGAATGTT[T/A]AAAAAAAAAAAAACACTGCTTTACATTGAATTCCAATGTTAACATGAAAG
Long Flanking Sequence:
TTAAAGGGGGCATCCAATACGAAACAAGGGAAAGTATCCTAAAGTGCACCAAAATGACAAGCGTGTGTTATCTCTTTCTGACAGAATGTACCGACGGACCTCCAACATGGTGGGCTTGAGTTATCCTCCCAGTGTGATCACAGCCTTGAAGGTAATACAACGCACCAATAGGATTCTGGGTTGCAGCCTCAAATGCACGAATGCACAAACAGGCACATGCATAACCTGGACACAGCGTGAATGCAAACATGTGAATGCGACACGTTTTGAATGCACAACAGAAACAACGAGGGCTAGATGGCAAAGTCAAACAGGCAAACAGGCCTGTTTAATCAAGCGGAGTGCACAATTGATCTTTCCCTCGGCCAGCTGGGTTACCTGGCACACATACACACATGCACATACGGTTTGGACAGGGCAGAGATGCTTTATTTGGTAGCAGTGGATACAAATAACATAAATATGCAGCTACTCTGAATATAAATGTATTTTAGAATGTT[T/A]AAAAAAAAAAAAACACTGCTTTACATTGAATTCCAATGTTAACATGAAAGGTAAAGAAATGCTGTGGGTTTAGTTAGTCAGGTTCACTACTACTGGTATGTATTATTGGTACATTTTTAATTTTAACTACAGTAGATCAAGATTGGGTTCAAGTCCAGGTTTATTTTATTTTATTAATTTTTACTTTATAGATTTTTATTATTGTAAATTATCTTTTTTTTTTTTTTTTTTTATAGATTTTTTACATGCTATTTTATTTTAGTATTCTTTGTTTCATAGATTTTCATTTTATAGATTTTTTTTATTATTATTTATTTTACATTTTATTTTCATTTTATTCTATTTTATAGATTTTTTTATAGATTTTTTCCTTCATTTCATTGGGTTTTATTTTGTAGATTATTATTATTATTATTATTATTATTATTATTATTATCATCATTATTATTATTATTATTATTACTATCATTTTTATTTGTTTTACATTTTTTTTATTTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7310
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097488 Nonsense 306 487 16 25
Genomic Location (Zv9):
Chromosome 24 (position 33570441)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 32449459
GRCz11 24 32364102
KASP Assay ID:
554-4741.1 (used for ordering genotyping assays)
KASP Sequence:
TTTCTATGATYCTTCAGAAATCATTYTTATAGGAAAAATGCATAGATTTT[T/A]GGATCAGATCCGGTTGTAAAARTATATTAAAAATAATATATAAAATATAA
Long Flanking Sequence:
CCTCTAGGCTGGTATCTCAAAGGGTAGAGCTTCAGAATGGAGTTGAGATCTCCTGCAGTCTCTTCTAACTCTTATGCCCTTGAGCGAGTCTATTCTGATTGCTTTATCTGCAGGTTACTGTATAAAGTGTCTATATGTGACTGGGAGAAGCCGTAGAATACTAATACAGATGTTCTTGCCAAACACTAGCCATAATTTGCTGTTTACATCTACTTATTCTAAATAGAAATGTTAATATGCTGAACCTAATGAAGACTTTGGTTTATATTAAGTGTGTTTAATCCACACAAGAACTGTCCCTTTACGTAGGTAGATAGATGTGAAGAGCCGAATGTGTTTTTATGTTTTTGAAGTCTCTTTTGCTCACAGATGCAGGCATGTATTTACTTTAAAACTCTGGAATATAATTACAATTTAGATAACTGGTCTGTGTTACAATGCTGATTTTTTTTTCTATGATCCTTCAGAAATCATTCTTATAGGAAAAATGCATAGATTTT[T/A]GGATCAGATCCGGTTGTAAAAGTATATTAAAAATAATATATAAAATATAAAAATATAAATATATAAGTGTGTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACACACACACACACACACACACACACACACATACACGCACTACCTGACAAAAGTCATCTATCCAAGTTTTAGGAACAAAAAATAATAACTTGACTTCTAGCTGATCATTTGGTATCAGAAGTGGCTTATATAAAAGGCAAAGACCTCTAGACTACGCTTATTTAACCAAAATAAAATATGATCATGCCTTGATTTTTAATTATTTAATTAGGACAGTAAGATCTGACTTTAGAATAAAAAGTCATGCTGCAGTGGAAACAGAATTAATATTGTGAATGACTCCCATGAGCTTGGAGGACTGCATCCATACATCTCTCCAATGACTCAGATCACTTATTAATAAAGTCATCTGGAATGGCCAAGAAAGT
Associated Phenotype:
Not determined