Busch Lab

ZMP

ctns

Ensembl ID:
ENSDARG00000008890
ZFIN ID:
ZDB-GENE-050522-352
Description:
cystinosin [Source:RefSeq peptide;Acc:NP_001018407]
Human Orthologue:
CTNS
Human Description:
cystinosis, nephropathic [Source:HGNC Symbol;Acc:2518]
Mouse Orthologue:
Ctns
Mouse Description:
cystinosis, nephropathic Gene [Source:MGI Symbol;Acc:MGI:1932872]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa1921 Essential Splice Site F2 line generated Not yet available
sa14661 Nonsense Available for shipment Available now
sa4403 Essential Splice Site F2 line generated Not yet available
sa21844 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa1921
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002459 Essential Splice Site 193 384 7 10
Genomic Location (Zv9):
Chromosome 11 (position 6324066)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 6292249
GRCz11 11 6289504
KASP Assay ID:
554-1910.1 (used for ordering genotyping assays)
KASP Sequence:
TGATCGTCAACAAGCAGTTCTGATATACAGATGTTAAATGGTGTATTTCC[A/C]GGAGGAATTCTTGAAGAAAGATCCAAACGGAGTCAWTCCTGTGGATGCCA
Long Flanking Sequence:
AATAGTTGCAGACAAATCAAGAGCAGAAAATTTGTACAACTCTGCAATGTTTTTGTTTTTCGGAATCAATCTGTTTTCGAATTAATCAATTCATTCATACAGACAGTTGTTGTGTCCTGATGCCATTTGGCATAAATAGTATTTAAAAAAAAATGTGACCTGTACTTATAAAACCTAGTTTGAAATATAGTGGCAAATGGTAAACATTTAACTTGATGACAAACAATTATCAAATAATGACAAATAATCAGCTTATAGTAGCTGCACTGTAATCCTTGATAATACTACTGTAATATATCATTAATATATAGATGAAATCAATGAAATATTGTTTAACTTAATAGAAAATAGCTGGATATCATTTTTCTAAACCTTGATGTAGTGGGATTGACATGCAGGATTATATTTAGTGAGTTGCACTAAGTCACTCTGATGTCTTCAGATTTCTTCTGATCGTCAACAAGCAGTTCTGATATACAGATGTTAAATGGTGTATTTCC[A/C]GGAGGAATTCTTGAAGAAAGATCCAAACGGAGTCATTCCTGTGGATGCCAATGATGTGTTCTTCAGTCTCCATGCATTACTTCTCACTCTGGTCTATATCTGCCAGTGTGCCATCTATGAGGTAAACATTACAACATTCATGGGCAAATGATCAATTATAATGATGTTATTGTGGTTGACACACTCGCTCACCTGTATATGTGGTTACAAAAACTCTTCATAAATATGATTATTATCATGTAAAAATGGCATATTCTGTCCCCTAAACCTATTTCTAAAATTCACAAAAATCACAGAAAACTTTCAAATATATATATTTTTTAAAGTACAGCGATTACTTAACAGGTTTTTGTCATAGCAGATTTAAGACCTCATGATGGCCCTGGGCAACTAGTGCACAAGTGCCCCCGTGTTTTTTGTAAATTAGCTGTCACGTCAGACCTATAATTTTGTGATGTATGTGAACACATGTAAGACCTTTATTAATACATTTTTTTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14661
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
ENSDART00000002459 Nonsense 236 384 8 10
Genomic Location (Zv9):
Chromosome 11 (position 6324593)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 6292776
GRCz11 11 6290031
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCTTTATTAATACNNNNTTTTTTTGYTTGTTTTGTTTTCAGAGAGGTGGG[C/T]AAAAGGTYWCCAAAGTGGCCATTGGGTTATTAGCTATCGGCTGGACCTTT
Long Flanking Sequence:
ACGGAGTCATTCCTGTGGATGCCAATGATGTGTTCTTCAGTCTCCATGCATTACTTCTCACTCTGGTCTATATCTGCCAGTGTGCCATCTATGAGGTAAACATTACAACATTCATGGGCAAATGATCAATTATAATGATGTTATTGTGGTTGACACACTCGCTCACCTGTATATGTGGTTACAAAAACTCTTCATAAATATGATTATTATCATGTAAAAATGGCATATTCTGTCCCCTAAACCTATTTCTAAAATTCACAAAAATCACAGAAAACTTTCAAATATATATATTTTTTAAAGTACAGCGATTACTTAACAGGTTTTTGTCATAGCAGATTTAAGACCTCATGATGGCCCTGGGCAACTAGTGCACAAGTGCCCCCGTGTTTTTTGTAAATTAGCTGTCACGTCAGACCTATAATTTTGTGATGTATGTGAACACATGTAAGACCTTTATTAATACATTTTTTTTTTGTTTGTTTTGTTTTCAGAGAGGTGGG[C/T]AAAAGGTCTCCAAAGTGGCCATTGGGTTATTAGCTATCGGCTGGACCTTTGCATTTGTCTCTCTGTTTGTGGCTGTGGCAAAGAAAATCTCCTGGCTGGATTATCTGTACTATTTCTCCTACATTAAACTGGGTGTCACACTAGTGAAATACATCCCTCAGGTACAATTTTCCTTTCTCATCTCATCTCATCTCATAAAATATAACATACAATAAAATCTATTAAAAAAATTAAATTTTTTTTTTTTATTAAATTAGTTATTAGATAAAATTAGATAGACATAAAGAATTAATTAATTAAAATAAAATACAAAATTATATATATATATATATATATGCAGTTGAAGTCAGAATTATTAGCCCCCGTTTATTTTTTTCCCCCATTTTCTGTTTATAATAACTAGGACCACTTGGAATCCACACACACAGAATTTCTCAGATTTTCTGCAGATTTTTAGCCCATCATTAATTCAGTTTATTTACTTGAGTAAATGTGTGTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4403
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002459 Essential Splice Site 329 384 9 10
Genomic Location (Zv9):
Chromosome 11 (position 6327557)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 6295740
GRCz11 11 6292995
KASP Assay ID:
554-3604.1 (used for ordering genotyping assays)
KASP Sequence:
GGGGGCAGTTTCAGTTTGATCCAGATGTTCCTTGAGGCCTATAACAATGG[T/C]GAGACCACACAAACACTGYCATGTYCTATTTACGGTAAGGGTGGTCATAT
Long Flanking Sequence:
TTTGTTTCTTATTTTCTTTCTTATTTTGTATTGTTTCTTCCTTTCTTTTTGTTCTTTCTTTTTTCTTCTCTTTCTTTTTATTCTTTCTTTTTATTTTTTTATTCTTTCTTTCTTTTTATATTCTTTTCTTTTTTTATTCTTTCTTTTTTGTTCTTTCTTTATTTTATTCTTTCTTTTTAATCTTTCTTTCTTTATTTCTTTCTTTTTATTCTCTTTTTTCTATCTTTCTTTCTTTTTGTTCTTTCTTTCTTTCATTCTTTCTTTCTTTCTTTCTTTCTTTCTGTTCTTCTGTTTTAATCTTCTTGGAAAAGCAGCTCATAAAAAGTGGTACTTTTAGCATATTCTTTACTGAAAAACAGATATTGTTTATATTTCTTTCAGGCTCACATGAACTACCGCAGGAAGAGCACAGAGGGCTGGAGCATCGGCAATGTGCTGCTGGACTTCACAGGGGGCAGTTTCAGTTTGATCCAGATGTTCCTTGAGGCCTATAACAATGG[T/C]GAGACCACACAAACACTGTCATGTTCTATTTACGGTAAGGGTGGTCATATATTCGCAAATTCTGACTTTCTCCTTAATTATATTTTTTCAGATAAGTAACATTGTTCAGTCACTAAATAGTGCCAATTTTGTCAAAATTACATGCAGTTTCAGATCAAATATTTAATGTGGTGGTAAATAATATAGAGGCCATTTAAATGAACGAATGTGCGAATATAAAACCAACTGTACCTCAATTATTTCCCACCGCAACACGTTAAAGATGTTACCATTCACAGAGCAACTGACTATTATGTGTTTTCTTGACAGATAAATGGAGGTTTATATTTGGAGACCCTACTAAGTTCGGACTGGGCGTCTTTTCCATATTCTTCGACATTTTGTTCATCATACAGCATTATTGTCTGTACAGGAACCGAGAGCCGATGTATCAGGATTTAGATGAACAAAATGATCAACACAGCAGTGTGAAAACCTGACCGGGGACATGGAATAACATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21844
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002459 Nonsense 342 384 10 10
Genomic Location (Zv9):
Chromosome 11 (position 6327905)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 6296088
GRCz11 11 6293343
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTCTTGACAGATAAATGGAGGTTTATATTTGGAGACCCTACTAAGTTC[G/T]GACTGGGCGTCTTTTCCATATTCTTCGACATTTTGTTCATCATACAGCAT
Long Flanking Sequence:
CTGAAAAACAGATATTGTTTATATTTCTTTCAGGCTCACATGAACTACCGCAGGAAGAGCACAGAGGGCTGGAGCATCGGCAATGTGCTGCTGGACTTCACAGGGGGCAGTTTCAGTTTGATCCAGATGTTCCTTGAGGCCTATAACAATGGTGAGACCACACAAACACTGTCATGTTCTATTTACGGTAAGGGTGGTCATATATTCGCAAATTCTGACTTTCTCCTTAATTATATTTTTTCAGATAAGTAACATTGTTCAGTCACTAAATAGTGCCAATTTTGTCAAAATTACATGCAGTTTCAGATCAAATATTTAATGTGGTGGTAAATAATATAGAGGCCATTTAAATGAACGAATGTGCGAATATAAAACCAACTGTACCTCAATTATTTCCCACCGCAACACGTTAAAGATGTTACCATTCACAGAGCAACTGACTATTATGTGTTTTCTTGACAGATAAATGGAGGTTTATATTTGGAGACCCTACTAAGTTC[G/T]GACTGGGCGTCTTTTCCATATTCTTCGACATTTTGTTCATCATACAGCATTATTGTCTGTACAGGAACCGAGAGCCGATGTATCAGGATTTAGATGAACAAAATGATCAACACAGCAGTGTGAAAACCTGACCGGGGACATGGAATAACATGAAGATTTCATATGGACTTATTAATATCACTTTTTGATTACTATTTTTCAAGTGTGACCTGTTTATAAAAGGGAACTATATAATTGTATATAGGCTTTTAGTTTCATATATATATAACCTTATTTCATATTCAAATAAACAGTATGGTCTCAGGTGAATTATTAGAGCTGGTGCTGTACTGAAATTAAAGTGTTGAACGCAGCACTTCAAAATTAGCCATATCTTTGTGTTATATTCCCTATTCTTTCTTGTGTTTACACTGTCATCTGGTGGCAGTATGTGCTGTTACTAAATGGGTGATTTTATGGTCATTTATATACAATATAAAACATAACAAAATAGCTTTAGC
Associated Phenotype:
Not determined