Busch Lab

ZMP

ENSDARG00000076131

Ensembl ID:
ENSDARG00000076131
Human Orthologue:
AC092718.1
Mouse Orthologue:
Pkd1l2
Mouse Description:
polycystic kidney disease 1 like 2 Gene [Source:MGI Symbol;Acc:MGI:2664668]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa39441 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa39441
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000099402 Essential Splice Site 78 225 3 5
Genomic Location (Zv9):
Chromosome 24 (position 17870006)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 17176482
GRCz11 24 17320901
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAAAACACAATAAAGTGGAAATACTGTTTACTATGTGTGTTGCTTTAACA[G/A]ACAGGAGCTGCTTTCTCTCTTATTGGAAGTCCAGTCATTACAAAGATCAA
Long Flanking Sequence:
CATCACCCTTTAGGAGTGCATTTTAATATATTTTTAGATATAATTGTCTAGTATGTATCTTTGGCACTTAGAATGACTTTTTTTTCAACAGGGATTTGATGCTACACCTCATCATGCTGTGGATGATTATATTTGTGGCCTATGGAAAGTCTGACAGTGATTCAAAGTACCGTTTGAACCAGGCTATCAAAACTCATTTCACAAAGTATGTACAAGAGACAATCCCAATTAACACAAAACTTGAAAATATTTAATTACTGCAAGTGTTAACAATTGTTTCATATTAACAGAAGCCTGCAAAATTCATTTCACTCCATCCAAAAACATGATGATTGGTGGAACTGGACAACAACCTCTTTGCTGGAGAAACTATACAATAATGCTGACAACCAGGATGAAAGACAAGAACATGATGTACATTTAATGATATATTTGACATCTGTTAGTATTTAAAACACAATAAAGTGGAAATACTGTTTACTATGTGTGTTGCTTTAACA[G/A]ACAGGAGCTGCTTTCTCTCTTATTGGAAGTCCAGTCATTACAAAGATCAAGAGCACACATAACTCCTCATGCCAGGTATTTCACCATCACTGTTTCACAGGGGGAAAGAATAAATGCTTTCATGTGACAACAAAACAGATACATTGGACATCTTCGGGACTAACTAAGATTGATGTTTATGTTTAGTGAAGCTTTATTAATTAATAATTGATTGTCTTTATTATATTAACCAAGTGTTTATGTCACACATTTCTTCCAAAATAATTGTAATGTGCTGATTTCTTGCTTGGGAACCATTTTTCTAAATGGTTTGCTGTTTCATATTTTATGAACATTTACTTTTAATTCAGCAAGATTGCTTTAAATGAACCAGATGTGATTGTGAAGTTATTTAATATTTTATAAAAGTGTGTTTCTGTTTAACTTGTGTTTTTGTTTCAATTTATCAAAGAATCCTAATAAAAATATTGGTTTAAAAATTTTTAAACAGTTAAGCTGTA
Associated Phenotype:
Not determined