LOC567816

Ensembl ID:
ENSDARG00000062319
Human Orthologue:
ZPLD1
Human Description:
zona pellucida-like domain containing 1 [Source:HGNC Symbol;Acc:27022]
Mouse Orthologue:
Zpld1
Mouse Description:
zona pellucida like domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2443415]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa1276 Essential Splice Site Available for shipment Available now
sa7758 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa1276
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089975 Essential Splice Site 105 375 2 10
Genomic Location:
Chromosome 15 (position 20824440)
KASP Assay ID:
554-1191.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCTGCCCGTCAATGACAGCCTGCAGAACCCCTGCAGACACTCTCTGCAG[G/A]TTTGAAGAAATCAGCATTTTACAACTTTTCTTAATTGTTACATATTGAAA
Associated Phenotype:

Normal

Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461

Mutation Details

Allele Name:
sa7758
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 2014.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089975 Nonsense 273 375 7 10
Genomic Location:
Chromosome 15 (position 20832277)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTAYAGAGAACCGAACAACAGTGATTAATAATGGACTTTCCAAGAGTTCC[A/T]GATTTTCATTTGAAGCCTTCCGCTTTGTGGAGCATCGTAATCAGCAGCAG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/r0rwo93p