Busch Lab

ZMP

pdca

Ensembl ID:
ENSDARG00000011886
ZFIN ID:
ZDB-GENE-031023-1
Description:
Pdc1 protein [Source:UniProtKB/TrEMBL;Acc:Q6P968]
Human Orthologue:
PDC
Human Description:
phosducin [Source:HGNC Symbol;Acc:8759]
Mouse Orthologue:
Pdc
Mouse Description:
phosducin Gene [Source:MGI Symbol;Acc:MGI:98090]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa32893 Nonsense Mutation detected in F1 DNA Not yet available
sa39809 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa32893
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007654 Nonsense 61 245 2 3
Genomic Location (Zv9):
Chromosome 2 (position 20683333)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 21229271
GRCz11 2 20887333
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAGTATCCCTTCCAACAAGAGAGAGCTCCTCAGACAGATGTCCAACCCT[A/T]AATCCAGTGATGACCCACGGGAAAAAGTGAACCGCAAGGTAATCACAGAA
Long Flanking Sequence:
CCTAAAGATTGACAATATGCTTCAGCTAAATAAACGTTGTCAATTTAGATTACAGATTGACATAAAGGAATGTCTGTATTTTTTATGATTCCACTTATCAGGTCTTCATAGAAGATTCATCATGTCAGAGTCACCTGAGATTGAGGAACTACCAGCAACCCAGACAGGTAAAAAAAAAAGCCCTTAGAGTTTCACAGCAATTTCAGAACTCGTCTTACAAACATCAGTATTTACTGTAATCATGAGGTAATAGTGGAGATTTCCCACATGTTGTGATATGGCCAAGATTACTTTAATTGAAGGTTATGGTCAGTATCTTGTAAACAGTTTATTATTATTATTATTATTATTTAATTAACCCATTGATTGCAATGTGGCAAAACCTCTTTGTAGGGCCAAAAGGTGTCATCCATGATTGGAGGAAGTTTAAACTTGAGAGTGAAGACCATGAAAGTATCCCTTCCAACAAGAGAGAGCTCCTCAGACAGATGTCCAACCCT[A/T]AATCCAGTGATGACCCACGGGAAAAAGTGAACCGCAAGGTAATCACAGAAACATATTGTCAACCTTATTTGTCCCAATACAGTTGGAAAGTTTGAGATTGGTAAAATTTTTTGAAAAATAAATACCACGTCTACATTCGCTTAAGATCCCATTTTCTACATTAAGAAATAAAAAATATATTACCTTGTGATTATAAAGTGGATTGGTACCAGCCAATGATAAAACACATCAGAAAATAATTACCAGGTTTCACTAGGAGGAAAAAACTTTCAGTTGAAAAATTAAGGGTCCCAAAATCGATTGCTGAGGAACACCCATAGATACTTACATTAGAAGTCATCTATGCTATTGTTGTCAATTGGAAGGAATGTGTCGATATAGCTGCCATTTTAGCTGCCACTACACTGAAATGAATATGGCCCAAGGTGCAGTGGAGAACTAGCCATCCGAAACCAGAGATATATACACATATATACATATATCTATGATCAGGAGTTTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39809
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007654 Essential Splice Site 73 245 2 3
Genomic Location (Zv9):
Chromosome 2 (position 20683294)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 21229232
GRCz11 2 20887294
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCCAACCCTAAATCCAGTGATGACCCACGGGAAAAAGTGAACCGCAAG[G/A]TAATCACAGAAACATATTGTCAACCTTATTTGTCCCAATACAGTTGGAAA
Long Flanking Sequence:
TCAATTTAGATTACAGATTGACATAAAGGAATGTCTGTATTTTTTATGATTCCACTTATCAGGTCTTCATAGAAGATTCATCATGTCAGAGTCACCTGAGATTGAGGAACTACCAGCAACCCAGACAGGTAAAAAAAAAAGCCCTTAGAGTTTCACAGCAATTTCAGAACTCGTCTTACAAACATCAGTATTTACTGTAATCATGAGGTAATAGTGGAGATTTCCCACATGTTGTGATATGGCCAAGATTACTTTAATTGAAGGTTATGGTCAGTATCTTGTAAACAGTTTATTATTATTATTATTATTATTTAATTAACCCATTGATTGCAATGTGGCAAAACCTCTTTGTAGGGCCAAAAGGTGTCATCCATGATTGGAGGAAGTTTAAACTTGAGAGTGAAGACCATGAAAGTATCCCTTCCAACAAGAGAGAGCTCCTCAGACAGATGTCCAACCCTAAATCCAGTGATGACCCACGGGAAAAAGTGAACCGCAAG[G/A]TAATCACAGAAACATATTGTCAACCTTATTTGTCCCAATACAGTTGGAAAGTTTGAGATTGGTAAAATTTTTTGAAAAATAAATACCACGTCTACATTCGCTTAAGATCCCATTTTCTACATTAAGAAATAAAAAATATATTACCTTGTGATTATAAAGTGGATTGGTACCAGCCAATGATAAAACACATCAGAAAATAATTACCAGGTTTCACTAGGAGGAAAAAACTTTCAGTTGAAAAATTAAGGGTCCCAAAATCGATTGCTGAGGAACACCCATAGATACTTACATTAGAAGTCATCTATGCTATTGTTGTCAATTGGAAGGAATGTGTCGATATAGCTGCCATTTTAGCTGCCACTACACTGAAATGAATATGGCCCAAGGTGCAGTGGAGAACTAGCCATCCGAAACCAGAGATATATACACATATATACATATATCTATGATCAGGAGTTTACCCGGTAGTCAGTATGCAGTTTTTTTTTTAAATCCTGAAA
Associated Phenotype:
Not determined