hnrnpul1

Ensembl ID:
ENSDARG00000040564
ZFIN ID:
ZDB-GENE-040426-2432
Description:
heterogeneous nuclear ribonucleoprotein U-like protein 1 [Source:RefSeq peptide;Acc:NP_998436]
Human Orthologue:
HNRNPUL1
Human Description:
heterogeneous nuclear ribonucleoprotein U-like 1 [Source:HGNC Symbol;Acc:17011]
Mouse Orthologue:
Hnrnpul1
Mouse Description:
heterogeneous nuclear ribonucleoprotein U-like 1 Gene [Source:MGI Symbol;Acc:MGI:2443517]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa4762 Essential Splice Site Mutation detected in F1 DNA During 2014
sa23344 Nonsense Available for shipment Available now
sa4761 Nonsense Mutation detected in F1 DNA During 2014
sa705 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa4762
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 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059360 Essential Splice Site 286 784 7 16
Genomic Location:
Chromosome 18 (position 34167154)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CATGTTGTGAGAGTGGGCTGGTCTCTGGATTCCTGCAGCACACAGCTTGG[T/C]AAAACAAACACATACAATCATAGTCAATGGCAATTTATCAAATGAATGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23344
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059360 Nonsense 506 784 12 16
Genomic Location:
Chromosome 18 (position 34156333)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCTCTTTTGTCACTTTGTCTAGACAAATGTATATGGATCAGCCCAGAGA[C/T]GAAAGATGCGCCCTTTTGAAGGGTTTCACCGTAAGGCTGTTGTAATTTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4761
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 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059360 Nonsense 712 784 15 16
Genomic Location:
Chromosome 18 (position 34150561)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGCAACCAGAGCAGCTATGGCCAAGGAAATTACAACCAAGGCTACAACTA[T/A]GGCAACTATAATCAGTACCCAGGATATGGGCAAGGGTATCAGGACAATCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa705
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059360 Nonsense 746 784 15 16
Genomic Location:
Chromosome 18 (position 34150461)
KASP Assay ID:
554-0613.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGGATCTGGACAATCCTACAACCAGCAGAACTATAATCAGCAGTATCAA[C/T]AGGTCAGTTACTGTGAATCCTTTCTGATTTCGAAGAATACTAAAAGTAAT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/cac8r39z