Busch Lab

ZMP

ocrl

Ensembl ID:
ENSDARG00000078106
ZFIN ID:
ZDB-GENE-061110-61
Description:
inositol polyphosphate 5-phosphatase OCRL-1 [Source:RefSeq peptide;Acc:NP_001071232]
Human Orthologue:
OCRL
Human Description:
oculocerebrorenal syndrome of Lowe [Source:HGNC Symbol;Acc:8108]
Mouse Orthologue:
Ocrl
Mouse Description:
oculocerebrorenal syndrome of Lowe Gene [Source:MGI Symbol;Acc:MGI:109589]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa11582 Essential Splice Site Available for shipment Available now
sa17235 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa11582
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112268 Essential Splice Site 631 952 17 23
ENSDART00000131655 Essential Splice Site 632 953 17 23
Genomic Location (Zv9):
Chromosome 14 (position 34947418)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 33496319
GRCz11 14 33836633
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCATGAATTTCTAGCCTAATAYTTATGTTYTRCCTGTTCTYTTATCACTA[G/T]TTCACCTTTGAGAATKTGAAGTTCCGTCAGCTGCAGCGTCAGAGTTTTCT
Long Flanking Sequence:
ATGACAATTTAATCTTTGGGGTAATTAAATATGCATTTTTCTGTTCCAAAAGAAGACCACAGGAATTAACTGGAACCTGCAAAAATATTATGCATTTGGATAGTTTTGGATACTGAAAATATTTATCTGAAATGGCAAAAATAAGTTTTGATATTCTGTTGAACACAATAGAAGATATTTTGAAGAATGCTGAAAACCTGTAATCATTGACTTTATCGGTAGGAAAACCCAGTGCTATGTCAATGAATTGTTGCAGGTTTCCAACTTTTTTCATTTCAATATATTTTTCCGTGTCCAACAGAAGAAGAAAAAATAAAGGTTTGAAAATCAAAGGGTGAGTAAAGGGAGACAATTTTTATTTTTGGGTGATTTATCCCCTTAAGCGTTGATGCTGAAATATTACTGAGGTAATGTTGAATGTCCAGTAATAGAGCAATGGCAGATGATAGAGCATGAATTTCTAGCCTAATATTTATGTTCTGCCTGTTCTTTTATCACTA[G/T]TTCACCTTTGAGAATGTGAAGTTCCGTCAGCTGCAGCGTCAGAGTTTTCTTATCACTAATGATGGACAAGTTGCTTGCACCTTCGCCTTTATTCCCAAACTCAATGACTCCCAATACTGTAAGCCCTGGTTACGTGCTGAGCCCTGTGAAGGGGTACTAGATCCTAGTAAGTATCTCATATGGCATTTTAACTCTTTATCTGTGTTATGACATTTTATTTGATGATTTTGTTAAATCATTTTTATATTTTTCGGTTTGATTCTTTTTTTTTGGGGGGTTTTGTAATAAAAAAAAAAAAGACCTGATTGGACAATTTACCTAATTGTGCAATAAAAAGGCACAGAAGTGTTTCAGAAGTAAATTTTCTCAGAGGTGGCAAATGCATTTCTCCAATCTTAACTGAATACTGTTATAGTAAAGCTGAGATTAGTCAAAGCAGCAATAATGTAGTCTGGCAACTTTACACAGTATTTTGAGCAAGAAATTGATGGCATTTTTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17235
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112268 Nonsense 670 952 17 23
ENSDART00000131655 Nonsense 671 953 17 23
Genomic Location (Zv9):
Chromosome 14 (position 34947538)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 33496199
GRCz11 14 33836513
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTGCTTGCACCTTCGCCTTTATTCCCAAACTCAATGACTCCCAATACTG[T/A]AAGCCCTGGTTACGTGCTGAGCCCTGTGAAGGGGTACTAGATCCTAGTAA
Long Flanking Sequence:
ATTTATCTGAAATGGCAAAAATAAGTTTTGATATTCTGTTGAACACAATAGAAGATATTTTGAAGAATGCTGAAAACCTGTAATCATTGACTTTATCGGTAGGAAAACCCAGTGCTATGTCAATGAATTGTTGCAGGTTTCCAACTTTTTTCATTTCAATATATTTTTCCGTGTCCAACAGAAGAAGAAAAAATAAAGGTTTGAAAATCAAAGGGTGAGTAAAGGGAGACAATTTTTATTTTTGGGTGATTTATCCCCTTAAGCGTTGATGCTGAAATATTACTGAGGTAATGTTGAATGTCCAGTAATAGAGCAATGGCAGATGATAGAGCATGAATTTCTAGCCTAATATTTATGTTCTGCCTGTTCTTTTATCACTAGTTCACCTTTGAGAATGTGAAGTTCCGTCAGCTGCAGCGTCAGAGTTTTCTTATCACTAATGATGGACAAGTTGCTTGCACCTTCGCCTTTATTCCCAAACTCAATGACTCCCAATACTG[T/A]AAGCCCTGGTTACGTGCTGAGCCCTGTGAAGGGGTACTAGATCCTAGTAAGTATCTCATATGGCATTTTAACTCTTTATCTGTGTTATGACATTTTATTTGATGATTTTGTTAAATCATTTTTATATTTTTCGGTTTGATTCTTTTTTTTTGGGGGGTTTTGTAATAAAAAAAAAAAAGACCTGATTGGACAATTTACCTAATTGTGCAATAAAAAGGCACAGAAGTGTTTCAGAAGTAAATTTTCTCAGAGGTGGCAAATGCATTTCTCCAATCTTAACTGAATACTGTTATAGTAAAGCTGAGATTAGTCAAAGCAGCAATAATGTAGTCTGGCAACTTTACACAGTATTTTGAGCAAGAAATTGATGGCATTTTTTCTTTAATGCTTTAAAAAATTGCATGCCGACTTCTTATATACAGTAGAGAGGACATATCTGATTTATTCATGTGAAGACTGAGACCGTCCCATCATCCAGATTGACTCAAATATTCATGTTA
Associated Phenotype:
Not determined