Busch Lab

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
sa26724 Nonsense Mutation detected in F1 DNA Not yet available
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:
sa26724
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103124 Nonsense 130 509 3 11
Genomic Location (Zv9):
Chromosome 6 (position 19690270)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 21748801
GRCz11 6 18220122
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCTGCAGCTGGTCGACAGGCTGAGGACATCGTCAGCTGGCTGAAAAAA[C/T]GAACTGGACCCGCAGCCACTACTTTAAATGATGTCATGCAAGCAGAGTCA
Long Flanking Sequence:
ATTCAGAAGTTTAGTCTTTATTAGTTTTTATCATGATGGAACGGTTCTATAAGGAGTTCTGTAACTATCTCTAAAGAACTCGTACTTCATAATAGACTGAATCGCTGGTGACACATCTGTAGTTCCAGTTGTACATTGTTTTGCTCAGTTCAGACTGGTTTGAGCGCAATTAAGACTACCTTTGAAACTGTGACATCATTCAGAGTGACACATCAGTCTTGCCCTGTGGTCATAATACGTGGAAGGAGAAATTGGATTAGATTTATTCTTTATTTAATGATATAATCTTAAGCTTTTTAAAGCTCAAGTTGTTTTAGGAAATAAATGCTTTTTAAATATAGCTGATCTCCATTTAAACTTTTAGCCTTCACCGAACAAGGGTATCTCTATAGATGCACAATTCTAAATGTTGTTCCGTAGTTACAGCAGGATTGACTAACTATCATGTGCTCTCTGCAGCTGGTCGACAGGCTGAGGACATCGTCAGCTGGCTGAAAAAA[C/T]GAACTGGACCCGCAGCCACTACTTTAAATGATGTCATGCAAGCAGAGTCAATTATTGCTGATAACGAGGTTGCAGTAATTGGATTTTTTAAGGTAAAATTCATTTGTGTTGTTCAGGGATTTTTAAATTGTATTTGTTTGATTTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTCTTTGCAGGATGTTGAATCAGAAGATTCTAAGGCCTTCATTAAAACCGCAGAGGCTGTGGATGACATCCCCTTTGGAATCACTTCTGATGATTCAGTCTTTGCAAAGTTTGAAGTTGCCAAGGATAGTGTTGTGCTTTTTAAGAAGGTACACACATTTCTACATTTTGTAAACTCTGCTGGATAACTTGCAGAAGATTATTTAATTGGTTTTAGCAGTGTGGCTAATATGGTGTTACAACTGGCCCTTTTGGTTTTGGCTTCGGTGCTGTAATGAAGGTACTGTGAAAGGAGGCAAAGAGCTAATGTTTCTCTC
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