Busch Lab

ZMP

PKD1

Ensembl ID:
ENSDARG00000030417
Description:
polycystic kidney disease 1 (autosomal dominant) [Source:HGNC Symbol;Acc:9008]
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 14 alleles of this gene:

Allele Name Consequence Status Availability
sa32782 Essential Splice Site Available for shipment Available now
sa19615 Essential Splice Site Available for shipment Available now
sa32781 Nonsense Mutation detected in F1 DNA Not yet available
sa31236 Nonsense Available for shipment Available now
sa14458 Nonsense Available for shipment Available now
sa19614 Nonsense Available for shipment Available now
sa16772 Nonsense Available for shipment Available now
sa39705 Nonsense Mutation detected in F1 DNA Not yet available
sa19613 Essential Splice Site Available for shipment Available now
sa9766 Nonsense Available for shipment Available now
sa44516 Nonsense Mutation detected in F1 DNA Not yet available
sa10689 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa32782
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
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039911 Essential Splice Site 434 4281 13 58
Genomic Location (Zv9):
Chromosome 1 (position 54923564)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53696093
GRCz11 1 54376118
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCTGATGTGCTGCCGGTGAGGAGGGCTCCAGGGATCGGGGTCTCTTCA[G/A]CCGGGGAACGTGTGTGTGTCTCTGGACGGCGGCGCGCAACCCAGCATACA
Long Flanking Sequence:
CTGGAAGAGCATCCGCTGTGTAAAACATATGTTGGAACACTGGATACACACACACACATAAGGAGAGAGATACACACTCACACACACATGGTCTTATGTAAGAATACACACATGAACGCAACACTTTTTATTGTTTCTTTTTTTGTTCTCTGTCTTTTCCTTTTTTTTCATTTTTGTAGTTTTCACAGATGTGAGATGTGGGGCTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTTTAGGGAGCTTGGTCTGTGTATGGGTCTCTGTGAATGTATTCGTGTATTTTTTTCCCCATGTTTTCTGATATTGTGTGCATGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATGTGTGTTCAGGGAGCTTGGTGTTTGGCTGGTTCTGAGTGATCAGTCTTCTCCCCATGTGTTCCGCTGGCTGGACGGCTCTGATGTGCTGCCGGTGAGGAGGGCTCCAGGGATCGGGGTCTCTTCA[G/A]CCGGGGAACGTGTGTGTGTCTCTGGACGGCGGCGCGCAACCCAGCATACACTCCTGCACCGCCAAACGAGCATTCATCTGCCAGTTCACACGTCACGGTAAACAGCAGACGCACACATCACCGCAGCTCTCCAAGACTAAAGACACACAAATGAACAATGTGGGTGTAGATGCTCTCAAACTGCAGCTCGATATGCTTCAGGCTACTCATCAGAGAAACTGGCTAAGCTCCTGTCACACTACACTTTCAGAAAAGAAGTTACTTCCTAAAATCAACTTCAAGTTACGTCCACTCATAGTTAATTGCTAAATGTAGTTAGCTACTCTACACTGTATTTCCTAAAAGGAGCTAGCTACTAGTTATTTGCTAAAATCAACTAGCTATACCACTTGCTTAAAGTAGTTGGCTGCACTACAAGTTACTTCCTTAAAGTTTTTTGCTACACTTCATGCTACTTGCTAAAAGGACCAAGTTACACTACATGTTTGCTAAAATTAGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19615
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039911 Essential Splice Site 631 4281 16 58
Genomic Location (Zv9):
Chromosome 1 (position 54918579)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53691108
GRCz11 1 54371144
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGACGAGGTGCTGATCTCACTGCCAGCCGGACCAGCAGCCAGCGTCCTGG[T/C]GAGTCAGAAACACAACTAAACTAAACTAAACTAAACTAAACTCTAAACTA
Long Flanking Sequence:
GACATACACACACTGCTGCCAAGTGCACACACATATCACATGTCAGATACACACAAACACACACATACTGTATGCACACGAACACACACACACAAACACACACTCCTGCCAGGTACACACACACACACCCACACACAAATACACATACACACGATTGCTTTTCTCAGGCTGTATGTTCTTCTGTTGTGTTTGTGTGTGTGTGTGATGTGCTGCTGTATTTTCAGCTTGCGGTGAGCTCTGCGCCCCCATCAGCGTCTGCCAGGCTCCAGATGAGTGGATGAACAGCACTGAAGCTCCAGCGGCTCCAGGGTGTCCAGCAGAGCGCCACTTCTGCCCCTTCTCTGAACGCTGTGTTTCTCTGTCCAGCCCCTGTCCCAGCAGCGCTTGCTTCAACTGCTCCGGGGTCAGTCCTCCGCCCGCGGGCACACAATACCCAGAGTACAGCCTGCTGGACGAGGTGCTGATCTCACTGCCAGCCGGACCAGCAGCCAGCGTCCTGG[T/C]GAGTCAGAAACACAACTAAACTAAACTAAACTAAACTAAACTCTAAACTAATCTCTAAATTAAATTAAACTAAACTAAACTAAACTAAACTTAACTATAAACTAAACTAAACACAACTAAACTTAACTATAAACTAAACTAAACTAAACTAAACAAAGCTAAACTAAACTAAACTAAACTAAACTCTAAACTAATCTCTAAATTAAATTAAACTAAACTAAACTAAACTTAACTATAAACTAAACTAAACACAACTAAACTTAACTATAAACTAAACTAAACTAAACAAAGCTAAGCTAAAATAAAATAAAATAAATTATTAAATAAAATAAAATATAAAATAAAATACACAATAAAGCAAATTATAAAATAAAATATAATATAAAATAATAAATGAAATAAGATATAATTTAAAATAAATTACCATAAAATATAAAATAAAAAAAGAAATGATAAAATAAAATAAAATATATAGGATAAAATAAAATAAAATTTAAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32781
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039911 Nonsense 729 4281 18 58
Genomic Location (Zv9):
Chromosome 1 (position 54914671)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53687200
GRCz11 1 54367264
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TACCACAATATATTGAATTATTGATATATATATATGTCTTCCCACAGGTT[G/T]GAGATTACAGTTTAGAAGTGACGTCCAACGATGAGGATTTTCCCGTCACT
Long Flanking Sequence:
CCCTGTACTAAAATGGCGGCTCTACTGATGCATTCCTTCCAATAGACAACAACAGGATAGGCGACATCTAATGTATATATCTATAGTCTGAGGCTATGTGTGTGTGTGTATTAACTAATGTTTACCATTGCAACAATATTGGACAGTGTTAATGTACAACAGCCCTATCAATTGTGACATAATTTTTAATTATGTATTTTATTATGTGTTTTAATTAAGTATTATAGCATGCCCAGATTAACATTTGAAAATGTTTGAACTATTAAGCTAATTAACCAATAAAATCTCCAAGCATTTGACGCTGTACTGAACAACACCACTGCAAATACAATTCTTAATTCAATCAATTAAATTCTGAATATTCTTAAAAATCACTCTAAAGGTTTAAATAATCAATAATTATTTACAGTATTTTGAAGAGCCCACAATAACGTCATTGTGCATGTTTATTACCACAATATATTGAATTATTGATATATATATATGTCTTCCCACAGGTT[G/T]GAGATTACAGTTTAGAAGTGACGTCCAACGATGAGGATTTTCCCGTCACTGCATCCTGCCCGATTCAAGTCATCCCGCCACTGACGCCAACTGTAATCCATCCGACAAATCACAACAACACTGTGTACTTCCTGCCCAATCAGACGTGGGTTCTCATTAAAGTGCGCTCTCAGCACAGTGCTCTGATTGGCTGTCAGGGCAACAATCTGACTGTGGCATTTGAAAGGGCGTGTCCTCAGAGTCTGCTGTCGAAGGTGGCCGAGTGCAGGCAGTCCGACCCATTCAATGACACCATGTTTGCCTGGGTTGACCTGCAGGCTGGATCTACGCCAGGACAGACCACCGTTGTGCTTCATGTCAAGAGTGAAGTCACTGAGGCCTATCTGCAGATTCAGGCCAGAGTTCAAGAGCCACTGCGAGGACTGCTCATACAACCACATCCTGCGCACAGAGTCCTGATGGAGTCCGTAGTGGTAAGTGACATCTGTCCTGATGAATAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31236
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
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039911 Nonsense 1234 4281 22 58
Genomic Location (Zv9):
Chromosome 1 (position 54905034)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53677563
GRCz11 1 54357647
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCGTTGAGGTGTTTGTTCTACAAGTGTTATCGCTAGAACCTACCGGGTG[C/A]ATTGAAGAAAACAAAATAGTCAGCTTTCATGTGTTTGTGTCTGGGAATGC
Long Flanking Sequence:
CTGCGTGCCGAAAAACCAGCTGACTTTGAGGCCCACCCTCTTCCTTCTCCATATGGCATCATATACACCTGGAATTTTGGGGACAATTCGAGTATACAGCAGGGACGGGAACGCAGGGTTCCTCACGCATACACTCACAGTGGTATCTACAACATCTGTGTGAATGTGAACAACAGCATTAGCTCAACAGACACATGCGCTAACATTATTGTCTATGAGGATATTAAGGGCTTGGAAGTAATGTCCTCTGCTCCCACAGAACACAACACACCTACTGTTATCAGAGCTAGTCTGGAAGCTGGCAATAACGTAACTTGGAGCTTTGACATGGGTGATGGAAAGGTGCACAAGAGTGTTGAACCCCAGATTAAATACAAGTATAGGGAAGATGGAAACTACACTGTCAATGTCACCGCAGAGAACGCAGTGAGCTCTCAGTGGCTGACCATACCCGTTGAGGTGTTTGTTCTACAAGTGTTATCGCTAGAACCTACCGGGTG[C/A]ATTGAAGAAAACAAAATAGTCAGCTTTCATGTGTTTGTGTCTGGGAATGCTTCAGGACATCAGTATGTGTGGAGTTTTGGAGATGGGAGCCCCAATGAGACTCAGTATGGGACGCCGCTGATTACCCACTCGTATGTTAATAGTGGTGATTACAATCTGTCACTTCTTGTGTCAAGTGACGCCAACAAGGCCCATTTTTACACAAGGATCTGCGTCCAACCTAAAGTTACAGTAGTGTCTGTGACCCCTTTGAGGACACATGTCAGACTTGGTGAAGAGAGTAGATTTACAGTAGCTGCTGTTCCTGAATTCAATTACACATACTTGTGGGACTTTGGAGTTGTGGACTCGGGAGGTCCAGTTCGAGGTGGTAAGGAGATGACATATACCTTCAATAGTGCTGGGGAATACCAAGTAACAGTTACTGTACAGAACAACATCTCCTCTATCAATGCCTCAGTTTCCATTGAGATACAGCAATCAGTTGGACTTTTGTTAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14458
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
ENSDART00000039911 Nonsense 1279 4281 22 58
Genomic Location (Zv9):
Chromosome 1 (position 54904899)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53677428
GRCz11 1 54357512
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGRAGCCCCAATGAGACTCAGKATGGGACGCCGCTKATWACCCACTCGTA[T/A]GTYAATAGTGGTGATTACAATCTGTCACTTCTTGTGTCAAGTGACGCCAA
Long Flanking Sequence:
CACAGTGGTATCTACAACATCTGTGTGAATGTGAACAACAGCATTAGCTCAACAGACACATGCGCTAACATTATTGTCTATGAGGATATTAAGGGCTTGGAAGTAATGTCCTCTGCTCCCACAGAACACAACACACCTACTGTTATCAGAGCTAGTCTGGAAGCTGGCAATAACGTAACTTGGAGCTTTGACATGGGTGATGGAAAGGTGCACAAGAGTGTTGAACCCCAGATTAAATACAAGTATAGGGAAGATGGAAACTACACTGTCAATGTCACCGCAGAGAACGCAGTGAGCTCTCAGTGGCTGACCATACCCGTTGAGGTGTTTGTTCTACAAGTGTTATCGCTAGAACCTACCGGGTGCATTGAAGAAAACAAAATAGTCAGCTTTCATGTGTTTGTGTCTGGGAATGCTTCAGGACATCAGTATGTGTGGAGTTTTGGAGATGGGAGCCCCAATGAGACTCAGTATGGGACGCCGCTGATTACCCACTCGTA[T/A]GTTAATAGTGGTGATTACAATCTGTCACTTCTTGTGTCAAGTGACGCCAACAAGGCCCATTTTTACACAAGGATCTGCGTCCAACCTAAAGTTACAGTAGTGTCTGTGACCCCTTTGAGGACACATGTCAGACTTGGTGAAGAGAGTAGATTTACAGTAGCTGCTGTTCCTGAATTCAATTACACATACTTGTGGGACTTTGGAGTTGTGGACTCGGGAGGTCCAGTTCGAGGTGGTAAGGAGATGACATATACCTTCAATAGTGCTGGGGAATACCAAGTAACAGTTACTGTACAGAACAACATCTCCTCTATCAATGCCTCAGTTTCCATTGAGATACAGCAATCAGTTGGACTTTTGTTAATCAGCCATAATGGAGACAAAGGAAACCATCTTTCTTTACACCAAGAGTACAATTTCAAAGCGTCCTCAGATTCGATGAATGCTGTCTACATTTGGGACTTTGGAGATGGGACTCAATGTAATGGGAAAATTGTGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19614
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
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039911 Nonsense 1393 4281 22 58
Genomic Location (Zv9):
Chromosome 1 (position 54904559)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53677088
GRCz11 1 54357172
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTACAGAACAACATCTCCTCTATCAATGCCTCAGTTTCCATTGAGATA[C/T]AGCAATCAGTTGGACTTTTGTTAATCAGCCATAATGGAGACAAAGGAAAC
Long Flanking Sequence:
TGTTATCGCTAGAACCTACCGGGTGCATTGAAGAAAACAAAATAGTCAGCTTTCATGTGTTTGTGTCTGGGAATGCTTCAGGACATCAGTATGTGTGGAGTTTTGGAGATGGGAGCCCCAATGAGACTCAGTATGGGACGCCGCTGATTACCCACTCGTATGTTAATAGTGGTGATTACAATCTGTCACTTCTTGTGTCAAGTGACGCCAACAAGGCCCATTTTTACACAAGGATCTGCGTCCAACCTAAAGTTACAGTAGTGTCTGTGACCCCTTTGAGGACACATGTCAGACTTGGTGAAGAGAGTAGATTTACAGTAGCTGCTGTTCCTGAATTCAATTACACATACTTGTGGGACTTTGGAGTTGTGGACTCGGGAGGTCCAGTTCGAGGTGGTAAGGAGATGACATATACCTTCAATAGTGCTGGGGAATACCAAGTAACAGTTACTGTACAGAACAACATCTCCTCTATCAATGCCTCAGTTTCCATTGAGATA[C/T]AGCAATCAGTTGGACTTTTGTTAATCAGCCATAATGGAGACAAAGGAAACCATCTTTCTTTACACCAAGAGTACAATTTCAAAGCGTCCTCAGATTCGATGAATGCTGTCTACATTTGGGACTTTGGAGATGGGACTCAATGTAATGGGAAAATTGTGTCACATTCTTACAATTCTTCAGGCAGGTTCAGCATCAGTGTCATAGGGAAGAATGAAGTGAGCAAGACCAAAAATGAGACTTCTGTTGTGGTCCTGGCACCAATCACGAGACTGTCTATAAATGCCAGCCTTGTCAATGTACCATTGAATGCTTCTGTGCACTTCGAGGCACAACTCGACCAAGGAGATGATGTACGATACTCTTGGATTCTTTGTGACCGGTGCAAGTCCATCCAAGGCACTCACACCATGTTCTACACATTTCTATCTGTCGGGACCTTCAATGTCATTGTTACCGCAGAGAATGCTATCAGCATGGCTCAGTCCAGCATTTTCATCTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16772
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039911 Nonsense 1988 4281 22 58
Genomic Location (Zv9):
Chromosome 1 (position 54902774)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53675303
GRCz11 1 54355387
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCTGAGAGCGTTCAATTCTCTGAATGGTCTWAATGTAACTAAGGTTATA[C/T]RAGTTCAGAGCATTATCAGRTCAGCATTGTTGGATGCTCAACCTAGTGAC
Long Flanking Sequence:
GCATCCAGGGTCTGGAACTCAAGGCAAGCAAACAAATTGCTGCCGTTGGTGAAAATGTTGAGTTCACCATATCAGTCTCATCTGGAACTTCCGTCAGCTTTATCCTGAGCATTAGTGGAGATGCAACCGTCGTACTAAACAATCTAACATACGTCCACCAGTTCACCAGTGTTGCCAAGTACTATGTCAACCTTACTGCCTACAACCACGTGAGTTCAGAACGAAGGACCCTTCACATTGAAGTGATGGAGCCTGTGACCAAGCTGACTATACTAGACTGCTGTGATGCTGCTATACCTGTGGGAGTTCCTAGGTCTTACGTAGCATCCACACCAACACGTGAGCCACTGACCATCCTTTGGACCTTTGACCTTCATCATGGTTTCAAGATTTCTCGGGTTGGCAAGTCTATGACATATGCCCCAGAGCAGCCAGGCAATCTGACCATATTCCTGAGAGCGTTCAATTCTCTGAATGGTCTAAATGTAACTAAGGTTATA[C/T]AAGTTCAGAGCATTATCAGATCAGCATTGTTGGATGCTCAACCTAGTGACACTTTTGTAAACAAGACTGTTAACTTCCATGTAGGCATAACCCCTGCTTCAACTCCAGCTACATATCAGTGGGACTTTGGGGATGGTACTTCTGGCACTATCACCACTGCACCTTTTCATAATCATGTCTACTTGATTCCTGGACACTATGTAGTGCGAGTCAATGTAAGTAACCTGGTGAGCTGGGTTACAGCACAGATTGAGGTCAACATCTCAGTCTTAAAGTGCGATGAACCAGAGGTGCAGATCATTCAAGCTCCACGACTTGCCATCTGGCGGCATCAACCAACTTTGGTAGAAGCCAGTGTGAATCTGAAAGGTTGTGTCCTCTATGGTGTAGAGTACCTTTGGGAGATCCTCACCTCCCCTCGCTGTCAGGATGATGACAAGAAAGGTCCACCACCGTCTAAGATTCAACTCCCTCCAGAAGTCAATGTTCGAAGGCTCCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39705
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
ENSDART00000039911 Nonsense 2908 4281 32 58
Genomic Location (Zv9):
Chromosome 1 (position 54881471)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53653897
GRCz11 1 54334061
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAGATACTCCAGACTCGTGGATCACAGCCTATCTGGACACCTCTGAATG[G/A]CCCAATGAATTCAACAGCACTGACAGGAAACGCATCACGCTCAACATGAC
Long Flanking Sequence:
CGAGCCATTGACTGCAGAATTGCTCTGAACAGTTTATTTAAATCAGTGATTTATTAACTAGAGACTTATTCTGAACAATTCATTTGAATCAGTGAGTCATTAACTGCAGCCTACCGCTGAACAAATCTTTTGAATCAGCGAGTCAGTAACTTCAGGCTCCCTTTAAACAGTTTATTGGTATCAGTGAGTCATTAATTGCAGACTCACTCTGAACAATTCATTTGAATCAGTGAGTCGTTAACTGCAGACTTTCCCTGAACAGTTTATTTGAATCAGTGAGTCATTAACTGCAGATTCTTCTTTGAACAGTTCATAGGTGTCTAAAAATTAGAAAAAGGAACAAACACAATTTCATGATTATGCATCTATGATCATATTTTACTAGTTTTATTTGAGTAGTTCTTATATTTAGGTAACTTTTTACAGTAGTTTGCGTTCATCATGTGTTTCTTAGATACTCCAGACTCGTGGATCACAGCCTATCTGGACACCTCTGAATG[G/A]CCCAATGAATTCAACAGCACTGACAGGAAACGCATCACGCTCAACATGACAAGAAGGCCGGACCTTCATCACCGTGACTACACCTTCTTCCTTTCTCCAAAGTAAGAGATGTCCTGAATATGTTTTCTGACAATTCTTTCTGTTTTTTGCAGTTGTTCACTGTAGACTCACTCTGAACGGATCATTTAAATAATTGAATCATTTGAATCAGCCATTTGAATTTGCATACTTGCTTTGAATGGATCATTTGAATCTGTGAGTCGTTAACTGCAGACTTATTCTGACTGGATGTTTTGAATCGAAGAGTCGCTGACTGTAGATTGGCTCTGAACAAATAATATGAATCAGTGAGTCATTAGCATCAGCCTCACTCTGAACAAATAATCTGAATCAGTGAGTCATTAGCATCAGCCTCTATCTGAACAAAAATATGAATCAGTGAGTCATTAACTTCAGCCTTCCTCTGAACAGATCATCTGAATCAGTGATTCGTTAACTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19613
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
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039911 Essential Splice Site 3029 4281 33 58
Genomic Location (Zv9):
Chromosome 1 (position 54879725)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53652151
GRCz11 1 54332315
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGCTGCCAGCCTGTTCGTCCCGCCAGACGCCGTCTCCTTCATCATTCCTG[T/C]GAGCATATACTGCTGCAACATTTTCAACAATTTACAGCATTAAATGATCA
Long Flanking Sequence:
AATGAGTCATTTGAATAAGTAAGGCATTAATTGGAGACTTGCTTTGAACAGATTTTTTGAATCAGTGAGTCGTTAGCGGCAGACTCACTATGAACAGATTATTTGAATCAATGAGTCATTAACTAGATTAATTAGATAGATAACTTACTGAAATGAAGTGGAGCTCTACCATGTAGCATGTGAAAGTGTCCTAAAATAAAATGTGTGCTGATGTTGTTGTGTGCCCTCTTCTTTCAGTGTGTACGACACCACGCAGGATCACTTCATCAACGTGTCGTCAGGCTGTGGCACTGCAGAACCAGAGCTCCTGCGTCTGGAAGTGGCCGTCTTCACGTCTCTGTGTCAGTACTTTAGTGAAAGTGCCAAACAATGGCGGACGGATGGCATGGAGCCGCTCGCAGAGACCAGCGTGGGTCAAGCCGTGTGCCGCACCCATCACCTCACCGCATTCGCTGCCAGCCTGTTCGTCCCGCCAGACGCCGTCTCCTTCATCATTCCTG[T/C]GAGCATATACTGCTGCAACATTTTCAACAATTTACAGCATTAAATGATCATTTTACCTCTTCAGATACTGATTCTTTAACCAATATCTTTAAGTTCATAGCAAAAAATAACCTCCAAAATATCTTAGAGTGAGTCATTTGAATCAGTGAGGCAATATATATAGATTTCAATAATTTAATCATTTAAATGAGAGTTATTACCTGAAGACTCACTCGATAGGATCATTTGAATCAGTGAATCGTTAACTGCATACTTATTCTGAAAGGATCACTTGAATAAGTGAATCATTTGAATCAGTGAATCATTAACTGCAGACTCGCTCTGAACAGATCGTTTGAATAAGTGAGTCTTTCGTATCAGTGAGTGGTTAACTGCAGACTCATTTCATGCTATCAAGAATAATTTAAATTAGTGATTAATTTGAATCAGTGAGTCATTACTGCAGACTCTGAAAGGATCATTTGAATCAGTGAGTCATTTGATTAAGTGAGTTTGTAAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9766
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
ENSDART00000039911 Nonsense 3748 4281 50 58
Genomic Location (Zv9):
Chromosome 1 (position 54843847)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53615314
GRCz11 1 54295478
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGACACTCTNNGACCCTCGCTGTCCTCCAGAATGCCCCGTCAGTGGATA[T/A]TTCCCAGYATCCTCTYGGTTTGGGTGTGTCCAGGCCGGGTGGGCSGAGTC
Long Flanking Sequence:
GCTAATACTGCTCCATCAAAAGACATTTAACTGACTATAAGACACTTTGCAAGTACATGTCAACTTACTTATCTAAACCCAACCCTAACCTAACAGTCTACTTATAATCTATTGAGAATTAGTTGGCATGTAGATGCAATGTAACTTCAATTCAACAAACGGACCATCAAAATAAAGTGTGATCAAAAACTCTTTTACACTGGCCAACAGAGCACTTTTACCTGTATTTTTATGACATTTTATTGATGTAAAAAGTCTTAAATTTGACTTGACTTTTGACTTTTCTGAAACCCTGAAACCATATCGGTAAAATGGCTAATTTTATCATTTTTTTGAGAGGTCAGGATGAAATTTTCTTTCTTAAAAATGTTTAACGCAATGAAGAGACGAATGAGCTATATGCACATGTGTTTATAAAACTAATAATAAAATGCAGAATCTCTTCACCTTATGACACTCTCTGACCCTCGCTGTCCTCCAGAATGCCCCGTCAGTGGATA[T/A]TTCCCAGCATCCTCTTGGTTTGGGTGTGTCCAGGCCGGGTGGGCCGAGTCAGCATCCGGATTGGTGCAGAACTGGAGCGTCAGTACAGCTCAGAGCAGCGGGTGAGAGTCACATGACCAGATAGTAAACTCATCAGATATAGAGAAATCTGACTGAAAGTATAAATACAGTTAAATTTTTCTTGTTTTTTTTTTCCAAATCTTTCCCAAATGATGTTTCATAGATTCAGGAAATTTTCACAGTATTTTCTATAATATTTTTTCTTCTGGAGAAAGTCTGGTTTGTTTTATTTCGGCTAAAATAAAAGCAGTTTTAAATTTTTTTAAAATCATTTAAGGTCAATATTATTAGCCCCTTTAAGCTATATGTTTTTCAAATGTCTACAGAACAAACCACTGTTATACAATGACTTGTCTAATTACCCCAGTTAAGCCTTTAAATGTCACTCAATACTACAGGGTGTTTGCAGGGTCTTAAAAAGTCTTACATTTAAAAAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44516
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039911 Nonsense 3885 4281 53 58
Genomic Location (Zv9):
Chromosome 1 (position 54837543)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53609723
GRCz11 1 54289887
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTCCCACAGCTCATCCTGCTGGTGTTGCTCATCTATTTCTCCGTTCGT[G/T]AGGGTTTGCTGGTCTGGAAACAGGGCCGCTGCTACTTCCTGCGCGTGTGG
Long Flanking Sequence:
GCGTGGCTTGTTATTCTACCGTGAGCTGATTGGATGTAATAGAATTGGCATTTCATTCAGAAAGAAGGGCAAAAGGGTTTGAGGAGTTATTACAACCTAACAGACTCCGCCTGCTCAGCATTTCTGTGTGTTGTCAAAACTGACAGCTGGAGGGGTGTGGTTAAGTATGTTAGCCACGCCCAATACCTCAGACAGACCTAATCTGAGATCCTAACCGAAAATAAAAAGGAAGCTTATTTTCAAAAGAGCAAACGCTACTTTTTGTTCTTAATGACATGCACTGATCAATTGTTCTGCACAAAACTAGCGATGTGAGCTAACAAAATCAGTACGGTTAGTTTTAATTTGATGTGTACTTTACCTCTAGGAGAGCTGTGAAATGTGGGGATTTTCAAAATTACCGAAGTTTGTTTGTAGTGTTATGAAGACAGAGGTCATTAAACTCTTTCCGTCTCCCACAGCTCATCCTGCTGGTGTTGCTCATCTATTTCTCCGTTCGT[G/T]AGGGTTTGCTGGTCTGGAAACAGGGCCGCTGCTACTTCCTGCGCGTGTGGAATTTAGCCAGCGTCTGCAGTCTGCTGCTGGCCGTCTGCGTAGCCTCTTTACACCTGAGCCGCTCTGTTGTGTCCGCGCAGCAGTGGAGAGCCTTCCTCCAGCACAGAGACGCCTTCACAGACTTCTTTCCTCTGGCCCAGCAGAACCAGCTTTTGACCCAGATGAGCGCCACTCTGCTCTTCCTGCTGGTGCTCAAGGTGAAACTGGGATTTTACGTTTTTGACCGTCACTTTAGCTTCGATTTGAATGTGGCAAACGTATAAGGTGTTTATAAGTTGTGAAATTGTTTTGAGTGTTAGTATGTTGAAGTAGCGATTAGGGATGGGTATTGTTAAGGTTTTAACGGTATTGCTACTTTTATCAATACCGCTTATCGGTTTTGTACTTTAACGGTTCTCTTATCGGTACTTTTTGTAGTGTTTTTTAAGTGAAAAAACAACAACAATTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10689
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039911 Nonsense 4160 4281 56 58
Genomic Location (Zv9):
Chromosome 1 (position 54830697)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53602877
GRCz11 1 54283041
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGGCTCCTCCGACTCCCGACAGTGYTGACGGAGGCTCTGAGGCCTCCTG[G/A]CGGCCTACATCCAGCAGCCCCTGCAGTCTGGCTGAAGTTCCTGGTCTGGG
Long Flanking Sequence:
GATGAATGAAGCATACACTAACATACATGTTATTTAGTGCCAAGATTTTGTCCCAAACAGCAGCAACACAGTCTAGCATGTAAATATGGATGTGAATGTATTTATTGAGGGTGTATACTGTGTTATTCAGCGGTTGTTATCTTGAAAAAACATACCCTAAAATGTCATGACTGACCATTCAGAATCAAAAGTATTTCAGACAGCCGTGGAACAATTTCGATTAATCGCCCAGCCCTAAGTACTTCTTACCAACTACAAACTCAGTATGCTCAATCGCCAGTTCATCAGACTCAGTCTTCATCCCAAACCTGTAATTAAAAACCTTGAACCCTTTCTTTTTCCCAACAGTTTCGGCACAAGGTGCGATTTGAAGGTATGGAGCTCCCTCCTTCACGTTCCTCTTCGACGAGTGACTGCAAGTCTTTATGTCTTCCTCCTCTGGACACTCCTGAGGCTCCTCCGACTCCCGACAGTGTTGACGGAGGCTCTGAGGCCTCCTG[G/A]CGGCCTACATCCAGCAGCCCCTGCAGTCTGGCTGAAGTTCCTGGTCTGGGACTCGGCCTCAGCTCAGGCCTTGGGGTGATCGTTGGAGGCCAAGGCTGGAAAGAGAGAGCAGAAATGGAGGCGACACTTCGCAGAGTTCTTCCAGCCTTCGATGCTCTGCTTCTTCAGCTTGACAGGGTCACTCATGCCACAGAGGATCTGTATCGAACAGAGTATCGGATAGAGAGGCTTCTGAGGAAGAGCAGAGGACAGGAAAGAGCAAGAAGTAGAAGCCGTAGAAGTTTAGATAATGCAGGACAGAGGAGACATAAACACAGGAGCACAGAAGTCTCAGAGAGTAGCAGGAGTCCCCTGAGAACTGAAATAAGTGACAGAAATCTTCATAAGAGTGACCGAAGATCAAGGAAAACAGACTCGAGAAAGTTTTCAAAAATCACCAGTGTTCTTTCCAAAAGTCTCAATAAAGGAGACTCGAGTCCCCACAGGGAGAACAGTCTGCA
Associated Phenotype:
Not determined