Busch Lab

ZMP

ENSDARG00000033029

Ensembl ID:
ENSDARG00000033029
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 6 alleles of this gene:

Allele Name Consequence Status Availability
sa35283 Nonsense Mutation detected in F1 DNA Not yet available
sa17876 Nonsense Available for shipment Available now
sa17144 Nonsense Available for shipment Available now
sa42019 Nonsense Mutation detected in F1 DNA Not yet available
sa27948 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa35283
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
ENSDART00000045361 Nonsense 216 1253 5 28
Genomic Location (Zv9):
Chromosome 12 (position 23080822)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 21604185
GRCz11 12 21725404
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTTGGGACATCCAGACAGAAAACATGTTCTTCTTCTTGGTGGAAGACT[G/A]GCTCTCAGTGGAGAATGAGAAAAACTCTGGAAGGGTGGAGAAAGTTATAT
Long Flanking Sequence:
GGACTTGAAGATATTTTACATAAAATATATTTACACATTTATACAGTTATAATCAGAATTATTAAACCCCCTTTGATTATTTATTTATTTATTTTTAATATTTCCCAAATTATGTTTAAAAGAGCAAGGTAATTTTCACAGTATGTCTGATAATATTTTTTCTTCTGGAGAAAGTCTGATGTGTTTTATTTCGGCTAAAATAAAAGCAGTTTTAAATAAAAAAAAAAAAAAACTTTTAGGTCAAAATTATTAACCCCTTTAAGCTATATATTTTTCCGAACAGGCGATTCTCTTTTTTTGAGTTAACATTTCCTTTTTAAAACAACAAATACTGAAAAACATTTGCTATGTGTCATTTTTGATTGAACATTTCCTTTTAAAAACAACAAATCATGAATAAATGCTATGTTTTTCAGGTCTAGACCCATCTTGGTATCTACAACATGTAATAGTTTGGGACATCCAGACAGAAAACATGTTCTTCTTCTTGGTGGAAGACT[G/A]GCTCTCAGTGGAGAATGAGAAAAACTCTGGAAGGGTGGAGAAAGTTATATTAGCATCTTGTAAGTATACACATCCTCTGTGGAGAATTTCATACTTGAATTTCATAACCTTATGATCCCTGTATACTGTAGGCCCTCAGGAGCTGCATCAGTTTAAGAGAATCCTACATTCCCAGTTGCTGTTTGGACTTCAAGAGCACCATCTGTGGATTTCATTATGGGAACGGCCAACACATAGCCGCTTTAGCCGAGCCCAGAGGGTCACCTGCTGCGCCCTCTTATTACATCTCTATCTGGCAGCTGGGGCAGTATGGTATGGAGCAGTGGGCAGAAAGGGCAGCAGGTAATAGGCCTGACCTTCAAAGGCCATAGACAACAGATTGAACTTGTATATTACACTGTAGAATCAGGTAATTACATCTTGTAAAACAAAGCAATTTCTGTTTTTCTCCAAGCTGTAGGCTTTGTTATTGATTAATGCCAAAGGGGAATCATTTTCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17876
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
ENSDART00000045361 Nonsense 691 1253 19 28
Genomic Location (Zv9):
Chromosome 12 (position 23091239)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 21614602
GRCz11 12 21735821
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCTGTTTAGTGWAYATGCTYTTCCTGTTGGTGGTYCTGATGGTGAACTA[T/A]CAGGAACATRTGCAGATGGCTGACARTAGACGGCTTCAMTCCGCCATTAA
Long Flanking Sequence:
TTTGTGTATTTGAATGACAGTACAAATTAAAGAACACAAAAAATTTTGAAAACATTGCTGTTTTTTTTATACATCAAAACATTATCTTTACTCTTGATGTCAGTTGTCTCTGTCTCCATCTCGGTCTTTCGATGCAGATATGCATTCAGGCACTATACCTGGCTACTGTGGTGCGACCAGTGGATCCCGAGGTGGAGGAGCGTTTGGCTCAGGAGACTGAGGTCAGAAGGTCTGAGGAGGACTTCAGGGATAAGGTGCACCCTCTCTGTGGATACGGCCTACTGCAGGCTAAAGAGGAAGCACGAAAACTGAGGACACTTAGAGCCTTAATGAGGGTGAGCAAAGACCACACACACATTTACTCATCAGAGTCCAAAAAAAAATTGACCATAATGGATGTTAATATTTATTTAAATTTTTTGCCGATTTATGTTTTGTGCTGTTAATCAGAGCTGTTTAGTGTATATGCTCTTCCTGTTGGTGGTTCTGATGGTGAACTA[T/A]CAGGAACATGTGCAGATGGCTGACAGTAGACGGCTTCACTCCGCCATTAAACATACACTGATCTCAGCTTCAGCAGGGAAGCCTGGTCTCATGAAGTTATCAGGGTAAGCCAATTATTCAGTTACACCAGTGTTGTAATGAAACTGATCTTTTTTTTAATGTCCTAGACATCCCAACGATTTATTAAAAATGAAAAAGTAGTATTTTTATGTTTGACTTAAAATTTTTACATTTTTCTTTTTAACGTGCCCCATATTCTTTAAATTAAAGCTGAGCTTGGAAGTCTCCAACAATACATTTGGATCCGTTCAAAAGAATTAATACTAATAATAAAATTGTCTATACTGTACAGCAATGGAAAAAAGAGACCACTTTGAGTTTCCTGGTATTTATGATTAATGTTTATGTGTTTGAGTAAAACAGCATTTTAGTTTTTCTCTGCAAACTACTGATGTCCAGTGTTGAGGAAAGTTACTTTTGAAAGTAATGCATTACAATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17144
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000045361 Nonsense 926 1253 25 28
Genomic Location (Zv9):
Chromosome 12 (position 23096182)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 21619545
GRCz11 12 21740764
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGCTATTCGCCCTGTRCTTTYTGAGTAYTGAAGTGCGAGCCTTGATCAGR[A/T]AGCCAAGTCAATACCTGAGGCAGGCCTGGTGCTGGTTTCAGACACTGTTG
Long Flanking Sequence:
GCAGGTTTGGACACCTCTACTACTGAATAAAATGCCCAAGTTCTCTCCATGTCCAGTATTGAACTAAGGACTTTCCTACACACATACACCTGTATTTATCAGTTCCAGAGCTCATCATGCGTATCAGATTAGTGTGTTTAGTAACTGTCTTACATTTTCTCCAACAGTACAAAGGCTGTATTGATCGAGTTCACTCAGTATCATAAACAGACAAGCATCTTGGCACCAGTCTCTATTCTCCTGGATCAAACACAGACAGGCAGAATCCTTGCTTTCATCTCCATCCAGCCCTTTCACATCTCTCCACTATCTGGTCCAGACTTGCATGTTACTCTGACGGTACTGGCTCTCCTACAAGACTAATTTTTGATAGAAGAAAACGTCACAATTTAAACAGGATAGTCTTTTTATTGTCATGTTAACAGCTGTCATCTCTCTAGGTTGTGCTACTGCTATTCGCCCTGTGCTTTCTGAGTACTGAAGTGCGAGCCTTGATCAGG[A/T]AGCCAAGTCAATACCTGAGGCAGGCCTGGTGCTGGTTTCAGACACTGTTGGCACTTCTGGCTTTGGCAGCTGCTGTTCTACGTCTGTATTTCCTCTACACGACTACAGTCTGCATTTCCAGATATCGTTCAATACCCTCCTCATTTGCTGACTTCCATAGCGCTGCCACAGTGGCCAGAAAGTCCAATCAGCTCTCAGCAATATTATTAACCCTCTTGGCTCTAAAGGTATATTATTCTAAAGCAAAAAATGGTTTGTCAGCATATGGTCACACTTCATTATGATGGTCCTGTAACTTTGCCACTTTATCGCCTTAATTGCTTGAATCCACAATAAAACATATAACAATAAAATAATAAAAAATAGATCTAAATAATTCAAATAAATGAATAGAGCAATAAGCCTTGTCATTTACATTAATTATATTTGCACAACGTATATTTTTGTGTCAGTATAATGGCACATTTGAGCAGCATTAGCAAACTATAAATATAAACAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42019
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000045361 Nonsense 958 1253 25 28
Genomic Location (Zv9):
Chromosome 12 (position 23096280)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 21619643
GRCz11 12 21740862
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGCACTTCTGGCTTTGGCAGCTGCTGTTCTACGTCTGTATTTCCTCTA[C/A]ACGACTACAGTCTGCATTTCCAGATATCGTTCAATACCCTCCTCATTTGC
Long Flanking Sequence:
TCAGTTCCAGAGCTCATCATGCGTATCAGATTAGTGTGTTTAGTAACTGTCTTACATTTTCTCCAACAGTACAAAGGCTGTATTGATCGAGTTCACTCAGTATCATAAACAGACAAGCATCTTGGCACCAGTCTCTATTCTCCTGGATCAAACACAGACAGGCAGAATCCTTGCTTTCATCTCCATCCAGCCCTTTCACATCTCTCCACTATCTGGTCCAGACTTGCATGTTACTCTGACGGTACTGGCTCTCCTACAAGACTAATTTTTGATAGAAGAAAACGTCACAATTTAAACAGGATAGTCTTTTTATTGTCATGTTAACAGCTGTCATCTCTCTAGGTTGTGCTACTGCTATTCGCCCTGTGCTTTCTGAGTACTGAAGTGCGAGCCTTGATCAGGAAGCCAAGTCAATACCTGAGGCAGGCCTGGTGCTGGTTTCAGACACTGTTGGCACTTCTGGCTTTGGCAGCTGCTGTTCTACGTCTGTATTTCCTCTA[C/A]ACGACTACAGTCTGCATTTCCAGATATCGTTCAATACCCTCCTCATTTGCTGACTTCCATAGCGCTGCCACAGTGGCCAGAAAGTCCAATCAGCTCTCAGCAATATTATTAACCCTCTTGGCTCTAAAGGTATATTATTCTAAAGCAAAAAATGGTTTGTCAGCATATGGTCACACTTCATTATGATGGTCCTGTAACTTTGCCACTTTATCGCCTTAATTGCTTGAATCCACAATAAAACATATAACAATAAAATAATAAAAAATAGATCTAAATAATTCAAATAAATGAATAGAGCAATAAGCCTTGTCATTTACATTAATTATATTTGCACAACGTATATTTTTGTGTCAGTATAATGGCACATTTGAGCAGCATTAGCAAACTATAAATATAAACAATGCCAAATCACATGCAATTTTTTAGTTCTACGGTGGGCATTACTAAAATATAATTTTTTTAGGGTATGAAATCAAATGACCAATTTTTTACACATTTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa27948
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
ENSDART00000045361 Nonsense 994 1253 25 28
Genomic Location (Zv9):
Chromosome 12 (position 23096387)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 21619750
GRCz11 12 21740969
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCATAGCGCTGCCACAGTGGCCAGAAAGTCCAATCAGCTCTCAGCAATAT[T/A]ATTAACCCTCTTGGCTCTAAAGGTATATTATTCTAAAGCAAAAAATGGTT
Long Flanking Sequence:
AACAGACAAGCATCTTGGCACCAGTCTCTATTCTCCTGGATCAAACACAGACAGGCAGAATCCTTGCTTTCATCTCCATCCAGCCCTTTCACATCTCTCCACTATCTGGTCCAGACTTGCATGTTACTCTGACGGTACTGGCTCTCCTACAAGACTAATTTTTGATAGAAGAAAACGTCACAATTTAAACAGGATAGTCTTTTTATTGTCATGTTAACAGCTGTCATCTCTCTAGGTTGTGCTACTGCTATTCGCCCTGTGCTTTCTGAGTACTGAAGTGCGAGCCTTGATCAGGAAGCCAAGTCAATACCTGAGGCAGGCCTGGTGCTGGTTTCAGACACTGTTGGCACTTCTGGCTTTGGCAGCTGCTGTTCTACGTCTGTATTTCCTCTACACGACTACAGTCTGCATTTCCAGATATCGTTCAATACCCTCCTCATTTGCTGACTTCCATAGCGCTGCCACAGTGGCCAGAAAGTCCAATCAGCTCTCAGCAATAT[T/A]ATTAACCCTCTTGGCTCTAAAGGTATATTATTCTAAAGCAAAAAATGGTTTGTCAGCATATGGTCACACTTCATTATGATGGTCCTGTAACTTTGCCACTTTATCGCCTTAATTGCTTGAATCCACAATAAAACATATAACAATAAAATAATAAAAAATAGATCTAAATAATTCAAATAAATGAATAGAGCAATAAGCCTTGTCATTTACATTAATTATATTTGCACAACGTATATTTTTGTGTCAGTATAATGGCACATTTGAGCAGCATTAGCAAACTATAAATATAAACAATGCCAAATCACATGCAATTTTTTAGTTCTACGGTGGGCATTACTAAAATATAATTTTTTTAGGGTATGAAATCAAATGACCAATTTTTTACACATTTATGTAATCATTTTTAGAATAAAAAAAGTAGGATGTTTGCCTGTTGGCAATGATATTCAATAGGGTGCGTTTACAAGGCAGAGATCTCACAGCAGTCAGCTGCGCACAAT
Associated Phenotype:
Not determined