LOC100334568

Ensembl ID:
ENSDARG00000056806
Human Orthologue:
PDE5A
Human Description:
phosphodiesterase 5A, cGMP-specific [Source:HGNC Symbol;Acc:8784]
Mouse Orthologue:
Pde5a
Mouse Description:
phosphodiesterase 5A, cGMP-specific Gene [Source:MGI Symbol;Acc:MGI:2651499]

Alleles

There are 7 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa8885 Essential Splice Site Mutation detected in F1 DNA During 2016
sa19451 Nonsense Mutation detected in F1 DNA During 2016
sa39571 Nonsense Mutation detected in F1 DNA During 2016
sa32625 Essential Splice Site Mutation detected in F1 DNA During 2016
sa32624 Essential Splice Site Mutation detected in F1 DNA During 2016
sa30581 Nonsense Mutation detected in F1 DNA During 2016
sa32623 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa8885
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079359 Essential Splice Site 315 922 2 21
Genomic Location (Zv9):
Chromosome 1 (position 13158074)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 13586816
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATATGTAGTCAGGACTGGGAGACCTCTTACCGTCAAGGATGCCCATGAGG[T/C]ACAGTAYGAGGGATGTTCTTGTCTAAACCTTCTCYAAGTCATTTCAGGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19451
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079359 Nonsense 413 922 6 21
Genomic Location (Zv9):
Chromosome 1 (position 13151868)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 13580610
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTGATTGACAGGTGCTGTTGGAGTTGGCTCAGCTGGTGTCACATGACTA[T/A]CCATCTGTGGACGCCATGCTCGGTGAACTGGCTGCCGTTATTCTACCAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39571
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079359 Nonsense 485 922 8 21
Genomic Location (Zv9):
Chromosome 1 (position 13149421)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 13578163
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTAGGGATTGTGACACTGACGACGTCAGCTACATCTATGCAATGCATGTG[C/T]AAAACTCAATGGAGACGCTCAATATTGTCAACCGGCCTGTAAGTTGATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32625
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079359 Essential Splice Site 748 922 15 21
Genomic Location (Zv9):
Chromosome 1 (position 13144533)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 13573275
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTCGAGCACCATCATTATGACATGTGCCTTCTCATTCTTAACAACCCTG[T/C]AAGATCATGTAGCATAAATTAATCCATCCATCCATCCATCCATCCATCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32624
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079359 Essential Splice Site 808 922 17 21
Genomic Location (Zv9):
Chromosome 1 (position 13142882)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 13571624
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAGAATAACAGCTGTCTGTGGAAGGATGAAGGACACAGAGAACTCCTAAG[G/A]TACAAACATTTTAAATAACAATAACGCACAATATTCAAACATTTACTCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30581
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079359 Nonsense 839 922 19 21
Genomic Location (Zv9):
Chromosome 1 (position 13142413)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 13571155
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTTTATCTCAACCTCAACAGATCGCTGAGCTTGTAGCAACTGAATTTTA[T/A]GCGCAAGGAGACAGAGAGAAGCGTGAACTCAACATTCAACCCATTGTAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32623
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079359 Nonsense 920 922 21 21
Genomic Location (Zv9):
Chromosome 1 (position 13141914)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 13570656
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACACTGGCAAGAAATGGTGGACGATAGAAAGGAGGACAACATTAAAGAA[C/T]AAGAAAATTAAAAATATAAGCAAGTTAAAACTGAAATCCATCAAGAAAGG
Associated Phenotype:
Not determined

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