ITCH (1 of 2)

Ensembl ID:
ENSDARG00000076149
Description:
itchy E3 ubiquitin protein ligase homolog (mouse) [Source:HGNC Symbol;Acc:13890]
Human Orthologue:
ITCH
Human Description:
itchy E3 ubiquitin protein ligase homolog (mouse) [Source:HGNC Symbol;Acc:13890]
Mouse Orthologue:
Itch
Mouse Description:
itchy, E3 ubiquitin protein ligase Gene [Source:MGI Symbol;Acc:MGI:1202301]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa32568 Nonsense Available for shipment Available now
sa45028 Nonsense Mutation detected in F1 DNA During 2018
sa30531 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa32568
Current 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
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087334 Nonsense 121 842 4 22
Genomic Location (Zv9):
Chromosome Zv9_NA947 (position 102756)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 43673585
GRCz11 23 43565949
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCTTTTCCCGACTCTTGTGTGTTTCAGTCTGTGAGGTGGTGCAGACGCTA[C/T]AACTGTGCGACAGGGATCAGTCTGACAGCATCGGGGATCTGTCCGTGTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45028
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087334 Nonsense 211 842 6 22
Genomic Location (Zv9):
Chromosome Zv9_NA947 (position 98297)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 43669126
GRCz11 23 43561490
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACGGGCGAGTGAATGGCTTGGATTCTCCTTCAGTTTCTGCCAGAAGCTCT[C/T]GAGCTCAGAGACCTCCGCGGCCCTCGCGCCCTCCTCCACCCACCCCTCGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30531
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087334 Nonsense 365 842 9 22
Genomic Location (Zv9):
Chromosome Zv9_NA947 (position 93264)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 43664093
GRCz11 23 43556457
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACCAGAACTACCACATGGCAGCGGCCCACCATGGAGACGGTGCGCAACTA[T/A]GAGCAGTGGCAGCACCAGCGCAGTCAGCTGCAGGGGGCAATGCAGCAGTT
Associated Phenotype:
Not determined

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