ZMP

p4hb

Ensembl ID:

ENSDARG00000052589

ZFIN ID:

ZDB-GENE-080610-1

Description:

protein disulfide-isomerase [Source:RefSeq peptide;Acc:NP_998529]

Human Orthologue:

P4HB

Human Description:

prolyl 4-hydroxylase, beta polypeptide [Source:HGNC Symbol;Acc:8548]

Mouse Orthologue:

P4hb

Mouse Description:

prolyl 4-hydroxylase, beta polypeptide Gene [Source:MGI Symbol;Acc:MGI:97464]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa31506	Nonsense	Available for shipment	Available now
sa11106	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa31506

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

Mutation:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000103124	Nonsense	84	509	2	11

Genomic Location (Zv9):

Chromosome 6 (position 19683770)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	21755301
GRCz11	6	18226622

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGCTAAAAGCTGAAGGCTCAGATATCAGACTAGCTAAGGTAGATGCTACA[G/T]AAGAATCAGAACTTGCTCAGGAGTTTGGTGTTCGTGGGTATCCCACCATC

Long Flanking Sequence:

TTTTCTAAAATCTAGTGAAGTAATTTAACACGCACATCGTATTTTCCAAAGCTAAAAAAATGTGGGGTATGTGTGAAATTCAAGTTCATTTTATTTATAAAGCACATTTAAAATCAGTCACAAGACTGACCAAAGTGCTGTACATAAGACAAGGTAAAAATAAAAAGACAGAATATAAAAACATCGAAATAAGGCAAGAGAAACGTCTGTAAAAATGTATTGGATAAGAGAAGCAATAAAAACACCAATACCATACAAGTGCTATGAGTTAAGCTAATTTAGGCCATTGCACAGAGCTATGGTTAGTTTTAAGAGTGAATGGTATTAAGCCCCTAACTTGCAGGGATTATTAAATGTGAAATTTTATTGACCGTATTTTGCTTATTGCAGATGCACCATGGTGCGGACACTGCAAGGCCTTGGCCCCTGAATATTCCAAAGCAGCTGGAATGCTAAAAGCTGAAGGCTCAGATATCAGACTAGCTAAGGTAGATGCTACA[G/T]AAGAATCAGAACTTGCTCAGGAGTTTGGTGTTCGTGGGTATCCCACCATCAAGTTCTTCAAGGGAGGAGAGAAAGGGAACCCTAAGGAGTATTCTGGTAAGATATATTCGACACACTTTTTTGTACACAATGTTACATGTTACTTCTGTTACATTGATCTGTGACCTGCTAGACTTCAGCTTTTTAAATTTTGTGGTGGTGTGTTTGTGTATAAAATAATATTAATGAAAGGTAATAATATTCCTTCTACCATATTGAGTAGCCAAGCTTGTTTTCGTTCTGACTTATTTTAATTTAGTGAAATGGAGCAGTAGTTATGCTTTTACAGTACACCGTAAATCAAGTCGGTAAGGTAATTTGTCTGCCTATTGTATTAAGACTTCGAGTGCTAACTGCAGAAGATGTGGATGTCATTTCAGTATGTGGCAGCCCTGTGTGTCTTTACTGTTTGTAAAAAAAAAAAGGTCTATCAATCAATTTGTAGTTCCTCATGTTGCCTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa11106

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000103124	Essential Splice Site	207	509	5	11

Genomic Location (Zv9):

Chromosome 6 (position 19701457)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	21737614
GRCz11	6	18208935

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ACAAATATCCACTGTTGCAGCCACTAATAAGTTWTACTTTTTGTCTTTCA[G/A]TTTGATGAGGGTCGAAAWACTTTCGATGGAGAGGTCAGCAAAGAAAGTTT

Long Flanking Sequence:

GAGATGAGAATTTTAAGCTTCAACTCCTTAAAAGACATTTTAATGTCAAAGATCGTGAATCATTTCTTAGTACGAAAAACTGATTGCCCCATATTGCACTAAATTGAGATGTGAATGAATCTTTTAAGGTAACTTGTCTTTTTAACCTCTGGAAAAACTAAACTCAAAAAAAAAAAGTTTTACAATTGAGTAATATAACACTTTTTGGTTGTTTAAAGCAGTTTGAATGATTCATTAGTTGAATCATTGATTTTTTGATTTTTTTTTTATTTTACTGTGGGTGGATATTGTTTTACTTTATTTTAGTACAGGGTTAAACTTTTGTGTCAAAAAAAAGGTTTGTGTTGGCAGGGTGTTACAACTGATGCTCAAATGCATTGCCCTTTTTGCCTTTTTTCAAAGACAGCAACTACATTGAGTGTCATCATTGGCCACTCCATGTCATGCTGAACAAATATCCACTGTTGCAGCCACTAATAAGTTATACTTTTTGTCTTTCA[G/A]TTTGATGAGGGTCGAAATACTTTCGATGGAGAGGTCAGCAAAGAAAGTTTACTGAACTTCATCAAGGCCAACCAGCTTCCCCTGGTCATCGAGTTCACAGAGCAGGTAGGATTTTAGTTTTGGTGTCATTTCTGTCTATTGATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACAAACCTGTAGTATAGAACATGAGTGAACTATTTGAAGTTAGTTTGCAGCTGTATGGGAAAACGATTCATTCTAAGATTCTTATTTCTTCACTGCAGACTGCTCCCAAAATCTTTGGAGGTGACATCAAGTCCCATATCCTAATGTTTGTGCCTAAAGCAGCCAAAGACTTCCAGGATAAGATGGACCAATTTAAGAAGGCAGCAGAGGGTTTTAAAGGCAAAGTAAGTGCATCTGTTGTTGTTGTAACATTGTACATTTCCTTATTGCATTTCAGTTTGACCTAAATTCACTTTCCCCACAGATTCTCTTCATCTTCATTGA

Associated Phenotype:

Not determined