Busch Lab

ZMP

ENSDARG00000090777

Ensembl ID:
ENSDARG00000090777
Human Orthologue:
PKD1
Human Description:
polycystic kidney disease 1 (autosomal dominant) [Source:HGNC Symbol;Acc:9008]
Mouse Orthologue:
Pkd1
Mouse Description:
polycystic kidney disease 1 homolog Gene [Source:MGI Symbol;Acc:MGI:97603]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa35282 Nonsense Mutation detected in F1 DNA Not yet available
sa38887 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa35282
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000121852 Nonsense 164 893 1 5
Genomic Location (Zv9):
Chromosome 12 (position 23065614)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 21588977
GRCz11 12 21710196
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACCTACTGATGCTCTTTGGCTCGGCGGGACCAGGAAATGTCCTGCATT[G/A]GGAATGGGTTTTAACATTGCACAATAGAACTGTTGTGGTTCTTACCGACA
Long Flanking Sequence:
AAACAATAGTATGGCAGGCAATACCAAACAATTTCCACTTTTCACAAAAAATTCTGGTGACATACATGTCAGGCTGGTTGTGTCCAACGCACTCGGATTAGTAGATAGTGAACTTTCACTCAGATCAGTAGAGCTTGTGTCTGGCCTGAGTATTGTATCGCCAGTTAAGACTGTAACAAAAGGAAAACCAGTGAACATATCTGCAATTTTAGCATCTGGAACGGACATTAAGTACTCATGGTTCTTGGACTGTGAGCATTGTCCTGTTATATCAGATGTACCTTTCATTCTACATGCTTTTAAAATCTGCGGAGTGGTCAAGATTAGAGTATCAGCCTCAAATGTGTTTGGGTCTGAAGAAGCGACTAAGCTGCTAACAATTGAGGAAAACATCTCTAAAGTGGACTTTCAGATAAATGGCCAATCCAGACCATTTTTTGTAAAATCAAACCACCTACTGATGCTCTTTGGCTCGGCGGGACCAGGAAATGTCCTGCATT[G/A]GGAATGGGTTTTAACATTGCACAATAGAACTGTTGTGGTTCTTACCGACAATCAAACTGTTAGCTATTCTTTTGTGGATGCTGCAGATCATCGTCTCTCACTCAATGCTTCAAACGACATTAGCTGGCAAACTGTTTCATATACTATCACGGTTCAGGATGCCATCCAAGGACTTTCTCTTACATCTAGCAGCAGTGTGGTCTGTGAGGATGATTCTGTGACTTTCCTAACATCTGTCTCCAAGGGAAGTGAAGTTTCAGTTTCTTTGGAGTTTGTTAATGCAAGTTATTCTGTGGACATTGGGCGGGATTTTACCACCTACTCTCTTGCAGTTGGAAACCATCTGGTAAGAGCAACAGCGAAAAATAAAGTCAGTAGCCAAACTGCAACAGCGACTGTGAGAGTCGTGGAAAGAATTCGAGATCTGCGTTTGATTGGATGCTGCTCTGCCGTCTTAGAGGCATCCAAAAACATCAGCTTCCAAGCATCGGCTTTCTCGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38887
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000121852 Nonsense 513 893 1 5
Genomic Location (Zv9):
Chromosome 12 (position 23066662)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 21590025
GRCz11 12 21711244
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTGAAGCAAGAGTGGACTTCAACGGTTGTGTTACACACAAAGCATCTTA[T/A]ATCTGGGAGATCTTCAGAGGTCCAGATTGCCCAGGAATGAACAAGGTGAA
Long Flanking Sequence:
CGGGAAATTGGGCAGCATGTTCACTTCACACCTTTTGCTAATGGATCCCTGTCTGTTACAGTGGAAGCTGAAAATGGATTCTGCTCACAGTCCCTGACCAGTACAGCAACAATTCAGAAACATCTGAAGAAAGTGACTCTTTTGACCTCCCATGATGGAGCTTTTATTGACTATCCGGTCACTTTTGTTGCCATCACAGATGGAGGCAGCGACCTTAAATTCATTTGGGATTTCGGTGATGCCAGCGAAGGACTCCTGGTTACAGATTACAATAAACAAGTCCACAAATACAACGTTGCTGGTGAGTTTTTGGTGAAAGTGACAGCTTTCAATAACATAAGCGAGGTCTCCGTTCAAATTGCAATAGAAGTACAAAATCTGGTGTGTACCCAGCCACATATCTATACTGTAAAAGAAGAATATAATGTTTTAAAATCCAGACCAAGTTTCTTTGAAGCAAGAGTGGACTTCAACGGTTGTGTTACACACAAAGCATCTTA[T/A]ATCTGGGAGATCTTCAGAGGTCCAGATTGCCCAGGAATGAACAAGGTGAATTTAAATCATTCAGTGGACGTTACAACACCTCTACTCTCTCTGCCGAAGCACACTCTGAAAGTGGGAAACTACTGTCTGACATTTACTGCCAGGCTTAAGGGAACTCCTCTACAGCAGAACAAGACCATAAAGCTGAACGTGGTCCACAGTCGGCTGATACCTGTGATTAAAGGTGGTTCACTAAGGCTTTGGTCTTGTCTGTGTGATCTGACACTGGATGCAACAGAGTCTTTTGATCCAGATTCAGAGAAGAACGATATTGACTTGTTTAAGTTCCAGTGGAGTTACACAATAGAGGTAGAGTGCATTAAAAATGCAGTAAATTCTTTATTTGCTTCCGTGAACACTCAGTTAATGTATTCTGTAAAATGTAAAATGTATTCTGTGCTTCCAGAACACAACAGCACTTTCTTTAGCCATTTCCACCCTTCATGGCCATATTTCAGGAA
Associated Phenotype:
Not determined