ENSDARG00000091803

Ensembl ID:
ENSDARG00000091803
Human Orthologue:
AC092718.1
Mouse Orthologues:
Pkd1l2, Pkd1l3
Mouse Descriptions:
polycystic kidney disease 1 like 2 Gene [Source:MGI Symbol;Acc:MGI:2664668]
polycystic kidney disease 1 like 3 Gene [Source:MGI Symbol;Acc:MGI:2664670]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa41041 Essential Splice Site Mutation detected in F1 DNA During 2016
sa18895 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa41041
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124378 Essential Splice Site 449 1083 9 21
Genomic Location (Zv9):
Chromosome 7 (position 57774228)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 56209554
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGGGACAAACATCAGCTCTTGGAATCAAAGCACTACTGTGACCTATAAAG[G/A]TAACTTTGAAAAATAAATTCAGTGGTTTACTTAAATGGGTTGTGTATAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18895
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:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124378 Nonsense 986 1083 19 21
Genomic Location (Zv9):
Chromosome 7 (position 57756086)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 56191412
KASP Assay ID:
554-6158.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCAGTAGTTCAAGTACAGAAGAAGAAGCAGGGCTGGTGGTTGCCCTGGTG[G/A]TTTCTGTTCATCGGCTGGTTTCTGCTTTTTGTCATGAGTGGTATTTCCAC
Associated Phenotype:
Not determined

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