OPLAH

Ensembl ID:
ENSDARG00000045123
Description:
5-oxoprolinase (ATP-hydrolysing) [Source:HGNC Symbol;Acc:8149]
Human Orthologue:
OPLAH
Human Description:
5-oxoprolinase (ATP-hydrolysing) [Source:HGNC Symbol;Acc:8149]
Mouse Orthologue:
Oplah
Mouse Description:
5-oxoprolinase (ATP-hydrolysing) Gene [Source:MGI Symbol;Acc:MGI:1922725]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa15238 Essential Splice Site Available for shipment Available now
sa35231 Nonsense Mutation detected in F1 DNA During 2016
sa22054 Essential Splice Site Mutation detected in F1 DNA During 2016
sa1644 Nonsense F2 line generated During 2016

Mutation Details

Allele Name:
sa15238
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066359 Essential Splice Site 121 1291 2 26
Genomic Location (Zv9):
Chromosome 12 (position 14763346)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 13618999
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
RGACTTGCTACATATCGGAACCCAAGCACGGCCTAACCTTTTTGATTTGG[T/A]GAGTTTTGGTTGCTATGTAGATTTTTCCCAGTGACTTAATTGTTYTAATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35231
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 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066359 Nonsense 241 1291 5 26
Genomic Location (Zv9):
Chromosome 12 (position 14776800)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 13632453
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGTGAGGTGATGCCCATGGTGCGAGCAGTGCCCCGTGGGTATACAGTTTG[T/A]GCCGATGCCTACCTCACACCAAAAATACACCTGTACCTGACTAAATTTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22054
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 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066359 Essential Splice Site 266 1291 5 26
Genomic Location (Zv9):
Chromosome 12 (position 14776877)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 13632530
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACACCTGTACCTGACTAAATTTACTGCAGGCTTTAAAGGAGGCTTGAAGG[T/C]ATGTCTGTGTGGTTTGTTTAATCAATCATATACAGTTGAAGTCAGAATTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1644
Current Status:
F2 line generated
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 2016.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000066359 Nonsense 631 1291 13 26
Genomic Location (Zv9):
Chromosome 12 (position 14790808)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 13646461
KASP Assay ID:
554-1584.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TATGCTTATCTGACTTTTACTCTTTCTTTATCTACATCAGATATCTGAAA[G/T]AGTTTGGCTTCACTATCACTGATAGGCCTATCATGGTGGATGATATCCGT
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/.)

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