Busch Lab

ZMP

pdzd7a

Ensembl ID:
ENSDARG00000076974
ZFIN ID:
ZDB-GENE-090313-191
Description:
PDZ domain containing 7a [Source:RefSeq peptide;Acc:NP_001177686]
Human Orthologue:
PDZD7
Human Description:
PDZ domain containing 7 [Source:HGNC Symbol;Acc:26257]
Mouse Orthologue:
Pdzd7
Mouse Description:
PDZ domain containing 7 Gene [Source:MGI Symbol;Acc:MGI:3608325]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa42176 Nonsense Mutation detected in F1 DNA Not yet available
sa44784 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa42176
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
ENSDART00000114718 Nonsense 395 956 7 17
ENSDART00000136749 None None 268 None 6
Genomic Location (Zv9):
Chromosome 13 (position 18780621)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 18600656
GRCz11 13 18731648
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGAGTCATGTCCACAGAAACTAGTCGAATGGTAGGAGAAACCGTCCTGT[T/A]GAAAGACACTGTAATCCGCAGAGGGACAGCCCATTCCCGGACAAGGACCT
Long Flanking Sequence:
ACCTTTATACTTTTACTCAGTAAAGGGTAAGTTAATGAAGAGAAATAACTTTTAAACAACTTAATTTCTATGTAACTTATCAAAGTTACAAATTATTTTATTGCAATACATAAAAGTTCCATTCAAAATTGGACTGTGAATGACGGAGCTCCAGTGAAATGATCCATAAAAAACGTAAACTTTCTATTTTTCCCTTTCAGTGGCGAACGGAGGTCAGCCGTCGTCCTCTCAGGGCTCAGATTCATACTCCTCCACTTCTTCTCTGTCATCCGGGACGCCGGTCAGCTCTCTCAGCGGCCTCTCGCAGGTCATGTTTCCTCCTGCTTTCGGCTCAGAGATGGTGGACGTCTGCATCTCCACTGAGGATCGCTCGCGGCGGCCCAGCTCAGAGCGAATAGAAACTGCTATTCAGACTGACCCACAGGATCCCGATACCATATCCCGAACCAGCAGAGTCATGTCCACAGAAACTAGTCGAATGGTAGGAGAAACCGTCCTGT[T/A]GAAAGACACTGTAATCCGCAGAGGGACAGCCCATTCCCGGACAAGGACCTTTTCTGCTGGGGATAAAGAGACTCTGGACTCTCCTAAAACTGCTGTCCTGATGGCTCTCAGCAAGCCTCGGAAAGTCATCCGACGATCCCAGAGCCACATCACTGTGTCAGGTACAGTAAAACTGCTCTGTCAGAAAGATGTAGATCAAGGGTAGGGATGAATCAATGAATGAAGATCCTCAGATTGTTTGAAATCTTTATCTAAAATGATTTATGTTTTACCATTTCCACAAAATGATAAAGTTGCCATACAGTGCATTGATTCAATATTGTTAAAATAATGGAAGTATTATATTAATGTTTAATCAATATTCAGTATTGATAATATTTAATATGTAAAGTATTGACCTATAGGTAACTTACAAAAATCTTCAGAAATGGGCTAATATTCACATTCTCAGCCACATGAATTACCCATAGAAGAAAAAACACTGTTTTGACCAAATTTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44784
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114718 Essential Splice Site 661 956 13 17
ENSDART00000136749 None None 268 None 6
Genomic Location (Zv9):
Chromosome 13 (position 18807939)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 18627974
GRCz11 13 18758966
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTTGCCCTTTGAGCTTGAAGCCTATGACATACTAAAAAGCCGGTCTGG[T/C]AAGAACCTGTTTTCTTTGAAAAAATAACTTTTTTATTTTAGTTGCTGCAA
Long Flanking Sequence:
GAGTCTCGTGTTTCACTCACATGTATTTTGGAACTGACAAGCATTTTGGTTTACTATAAAATGTTGCCCCGTCTAATCAACCAATCCAAAGAACTTTAACTAATTTAACCAGTGCCTGTTTTAGATATAAACAAATGATCTACAGCTTTGAAAACACTCCTAGATCACTGACTCCAAAAGTTTACACTGTAAACTAGGGCATGTCCTCTACCTGTTCTTCAGTTTCTGGTCGATCGTGTGGTTGAGGATCTAGTGCGCCCCCTGCTGGCCATCTTGGACAAGCCTGAGAAGCTTCTGTTGCTGAGGGAGGTCAGGTGAGCAGTGGAACAATGTCACCCTGTACAATACTTTATTTATATAAATCCTGCATATGTTTACACTATCCATTCTAACGCACTGTTTTGTAGAATGATCATTCCTGCCACAGATCTGGGCCGTTTTGACAGTATGGTCTTGCCCTTTGAGCTTGAAGCCTATGACATACTAAAAAGCCGGTCTGG[T/C]AAGAACCTGTTTTCTTTGAAAAAATAACTTTTTTATTTTAGTTGCTGCAATAAAGTAGGAACTATACAGAAATGTCAGTCAGAAATGTACATATACCTATGGTAGCCCGTTCTCGCCTTTGAAGTCGGAATTGCGAATTATTAAGTCAGAATTCTGAGTTATGAAGTCAGAATTGCGAGTTATGTCAGAATTCTGAGTTATAAAGTCACAGTTCTGATTTGCGAGTTATTAAGTCAAAATTCTGAGTTATAAAGTCAGAACTCTAAGCTAGAATTGTGAGTTATAAAGTCATAATTCTGAGTTAAAAAGTCAAAATTTAGAGTTATGAAGTCAGAATTGCGAGTTATTAAGTCAGAATTGCGAGTTAACTTAGAATTCTGAGTTGTTAAGTCAGAATTCCAAGTTAGTTATTATATCAGAATTTCGAGGTATAAAGTCAGAATTGCAAGTTATTAAGTAGGGATGGGCAGGGTAGGTATAGACAGTAATAACTGTGACGG
Associated Phenotype:
Not determined