ZMP

pdip5

Ensembl ID:

ENSDARG00000009001

ZFIN ID:

ZDB-GENE-030131-879

Description:

protein disulfide-isomerase A6 [Source:RefSeq peptide;Acc:NP_922915]

Human Orthologue:

PDIA6

Human Description:

protein disulfide isomerase family A, member 6 [Source:HGNC Symbol;Acc:30168]

Mouse Orthologue:

Pdia6

Mouse Description:

protein disulfide isomerase associated 6 Gene [Source:MGI Symbol;Acc:MGI:1919103]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa37069	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa11858	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa37069

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
ENSDART00000020252	Essential Splice Site	233	440	7	13

Genomic Location (Zv9):

Chromosome 20 (position 31249281)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	20	31320494
GRCz11	20	31223373

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGGCTGCTGTGGACGCCACTGTTCACCAGGGCTTGGCAAGCCGCTTTGGG[G/A]TAGGTCTGAAATCAAACTTATTTTATGTCTTTCATATAAATGATAGATGT

Long Flanking Sequence:

GCATATAGCCTATTGAGATGATTCCTGCCATTGTTTGACTTTTGGATTGTGTTGTGATCAGAGTGGAGGTGGTGCGGGCAATAAGAAGGATGTGGTGGAGCTGACTGATGATAACTTTGACCGAACCGTGCTGGAGAGCGATGATGTCTGGCTGGTCGAGTTCTTCGCCCCCTGGTGTGGACACTGCAAAAAGTATGCGCATTTTCAATGTCTCACACACATCATGAGATCTGTCTGTCATTGCCCTGAAACACTACCTGACATGCTGTGCCATGCATTATTGACACGCTGAATCCATGTTCAATTATTAATATGCATTCTAAGACGCAGTGAAATTCCTCTGCTGGCTGGGCTTTCCCGTGTTGACTCTCTTTACCGCTTTCAGTCTTGAGCCGGAATGGACAGCGGCCGCCACAGAAGTCAAAGAGCAGACAAAGGGGAAAGTGAAACTGGCTGCTGTGGACGCCACTGTTCACCAGGGCTTGGCAAGCCGCTTTGGG[G/A]TAGGTCTGAAATCAAACTTATTTTATGTCTTTCATATAAATGATAGATGTTTCTAATTTAATTTCACATCTCTGTAATATCCCGCCTGCATTTTGGATGAAGAGCACATTTATTAGATCTGTTCATCATTTTAATGTTTGAATCATTTCTGTTCGGTGCGTTTGAACACATTGTGTGCTTTGTTTTATTGGTAGATTCGAGGATTCCCGACTATCAAAGTCTTTCGTAAAGGAGAGGAGCCTGAGGACTATCAGGGTGGACGAACCCGATCTGACATTGTTGCTCGTGCATTGGAGCTGTACTCTGATAACATCCCGGCTCCTGAGCTGCAAGAGGTGATCTTTTCTACTCTGCTTTTTATTACATTATTTTTATTGAGGACATGTAATATACATTTAGAACATTTTACATTCCAAAATATTAAATCGTACAATAATCAACAATGTAATAATCGCATAAAAAAATGATAAAATCTTAAATAAAATAAAAAAAACACACAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa11858

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000020252	Nonsense	295	440	9	13

Genomic Location (Zv9):

Chromosome 20 (position 31251775)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	20	31322988
GRCz11	20	31225867

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TTGTTTAGGTTTTGAATGAAGGCATTTTAAAGAAGACTTGTGAGGATTAT[C/T]AGCTGTGYATCATAGCTGTGCTGCCACAYATTCTAGATACAGGTACGATA

Long Flanking Sequence:

GGTGCAAAACTGATAGTTTGTCACCCTAATGAATCAACGGTTTTATGGTTTTATTCAAGTCACCTCATTTTTCAGTTTCTCATCAAATCATGACCAATCAAATGCTCTCTAGCATCTGACGTGCCCCGCCCCCTTCCAGACTCTTCAAATTTGATGCACTTGAGCTCAAACACTCTCACTGGCAGTGGTGTTAAAGCAAAATGCTATTGACTGTTTTATAAGAGGAGCTACTGTCCCACCCTCTTCATGTTTCAGTTGAGATTACATTAAACATTGAATAAAAATGCACATTTCAAAGCACTTCACAAGACCTTTAATAAGAGGATGGTCTGTCTGTTGTACATTATTTACGTTTGTGCTATCACATAAAATGCTTTGTAGATGGTTTAACAATTCTAGCTAGAGACTGATTTATACTGATGTTACTTTATTTTTGATGCATATTTTTTTTTGTTTAGGTTTTGAATGAAGGCATTTTAAAGAAGACTTGTGAGGATTAT[C/T]AGCTGTGCATCATAGCTGTGCTGCCACACATTCTAGATACAGGTACGATATGGTGAAATGTAACACTAATTTTTTCTAATCATGTTTTAAATCATTAATGTTTGGGTGTAGTATATGGTAATGGATGTTTAATTGTGCTGCTTATGTTCTGTGTTCTGTAATTTTACTTTTAGGATATCGTTTGCACTTAGTATTTAGTAACTGTCAAATTTTGCAATTCAAAAGTAGTTTTCAGTATTCTGTATTAGGGATGCAACGATTATAGATTTTGGTTGTACGATTATAGTCTGAGGAATAATAATCCCATGCAAACTCCTTATGTTAAAGTGTTAGTTATTGCAGCTCATAACCTTAATACAGCACAAAATAATAATAAAAAACAAACAATCGTCCATTTCTTTTTAGACTTTGGCTTTTAAACATGAGTAATAATTTTACACTCAAAATAACCATACACTGACAAAACAATGAAAAATAATAAAAAATAAGAATAAATTAAA

Associated Phenotype:

Not determined