Busch Lab

ZMP

ush1c

Ensembl ID:
ENSDARG00000051876
ZFIN ID:
ZDB-GENE-060312-41
Description:
harmonin [Source:RefSeq peptide;Acc:NP_001035018]
Human Orthologue:
USH1C
Human Description:
Usher syndrome 1C (autosomal recessive, severe) [Source:HGNC Symbol;Acc:12597]
Mouse Orthologue:
Ush1c
Mouse Description:
Usher syndrome 1C homolog (human) Gene [Source:MGI Symbol;Acc:MGI:1919338]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa8684 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa39483 Nonsense Mutation detected in F1 DNA Not yet available
sa9749 Essential Splice Site Available for shipment Available now
sa24680 Essential Splice Site, Missense Available for shipment Available now

Mutation Details

Allele Name:
sa8684
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073584 None None 548 None 21
ENSDART00000121791 None None 548 None 21
ENSDART00000129484 Essential Splice Site 422 895 16 29
ENSDART00000131991 Essential Splice Site 430 674 15 18
ENSDART00000131993 None None 134 None 6
Genomic Location (Zv9):
Chromosome 25 (position 23405262)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 22584375
GRCz11 25 22681923
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTCGGTTGGTTCTACCGTTATGAAGGAAAGTTGCCTACACTCAAAAAGG[T/C]ACTGCAAGCATGGTGTGCTGGTTTGGTGTGCTATAACAATAGAGTTTTTT
Long Flanking Sequence:
ACCGAACCGTACCACTCATCGGAAACGGGCCATCAAACGTGGTCAAACAAGCATGTTACCCTTGATGTACACAAATATTACTACTTTCTCCTCTGCATGAACAGATGTGCATTCTTTTTGAGAATGCACCATCTTTTTTTTTCTGTGTGTTTTCCTTTCTAATTTGCCTTTCTGGTGTGCCTTGTCTGTCACTTTCTGATACCATCAGCTGCTGATTCCTACGAAGAAGAGACCGGAGAAGTAAGTAAAGGATTCAGATAGCTTTACAAGACTTCTTTTCGGTTGCCTTCACTTTTTTCATAACATTTAAACTGCATGTAGACTATCATCCATCTAATTTTGTTAGGTTGGATCTTTTGGTAGCTTTTCTAAGAATGAATAATTTAGAATGCGCCATATCCTGATTGAGTTTGTGTCTGTGACTTAATGTGTCGCCTTTGCTGTCTTAGCATTCGGTTGGTTCTACCGTTATGAAGGAAAGTTGCCTACACTCAAAAAGG[T/C]ACTGCAAGCATGGTGTGCTGGTTTGGTGTGCTATAACAATAGAGTTTTTTGTTAATCTTGGAGATATGTCTGAGGTTGTTGTTTGCTTGGTAGTTGAGTTCAAGTCAATTGGATATTCTTTAAATCCCTTTGGATATTTAGAAGGAAAAAGAAACCAAAAAGAAGAAGAAGATGTCCAAGACTGACACTCTTCCAACTGAGAAAAAAAGCAAAAAAGAGATGGAGTTTGAGTTGAAACTTGCAAAGGAGAAAGAAGAAATACTTGAGCGAGAGAAGCAGATGAAAATCAGCAGGCTTCTGCAAGAGGTATTTGATTCCATCAAGTGAGGTTACAGTAGGGTTTCTAGACTTTTTTTTTAACGTATGCAATTGATTCAATCTTTTTGACACTCTGACCTTCACTAATATTTGTTGCACCCTTCCCAGTAGGGCTGGGACAATAAATCGATGCATTTGAAGTCAAGAAATTATTCTTTATCGATTCTGGAATTTTAGGAATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39483
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
ENSDART00000073584 None None 548 None 21
ENSDART00000121791 None None 548 None 21
ENSDART00000129484 Nonsense 480 895 19 29
ENSDART00000131991 Nonsense 494 674 17 18
ENSDART00000131993 None None 134 None 6
Genomic Location (Zv9):
Chromosome 25 (position 23406351)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 22585464
GRCz11 25 22683012
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCTGTGGCTTTACTTATCATCTAGGTGTCAGAAACTGAGAGGGAAGATT[T/A]GGAAGAATCTGAGAAAGTGCAACACTGGGTGGAGAGGCTCTGTCAAACAA
Long Flanking Sequence:
AATCCTGACACACCTGCTTGAACGTAAAACAATCATTAAAGAAGTCAACGATTGATGAAATTACAGAATTAAATTACAAAAGTATCCACAGTGGGCGGTGTTTACATTATTCCGATGGGAAAAAAAATCTGTGTCGCACCAATTGCTGTTTGACTCACAGGTTGTAATTTGAGTTTTTCTCAAGGAGTACCACATAGATGTGGCTTTTACTGATTGCAGTGATTAATAAGGAGGAAAGAGAATGAGACCACTCACAGTACATGGCTGAAAGCACAAGCACACTTCTTTATGTTACAAACTAAGCTCAGAATCGATTCCTGAAAGAATCGCAATGCAATCCAAAAGTCTAAGGGTGGATCCATGAATCACAATACATCGATTCATTGTCCCAATTCTAATTTCCAATGCCAGTCCAGCAAGTTCTCAATGGTATCAAAGGTTCCATGCTGTGGCTGTGGCTTTACTTATCATCTAGGTGTCAGAAACTGAGAGGGAAGATT[T/A]GGAAGAATCTGAGAAAGTGCAACACTGGGTGGAGAGGCTCTGTCAAACAAGACTAGAGCAAATCTCCTCGGTAGAAAACGAGTCTCCAGAGGTAAAGTCTACCACTCAACATCCCAATGTGTTGGTCTTGTTACTCACAGGTTGATAGATCAGATTTCTAAGTATTTAAAGTATACCCTCAGATGTCTCCAACACGCTCCCCGGCGTCGACTGGTCCCACCAGGCGGAGGTTCCCTGGTGGCTTGACGTTGGCCACTACTGATCTTGATGACATCAACTTAGATGATGTGGATCAGAGTCTAAGGCAGCCTTTAAAAAGATTAGCCCCAACTCCACCTACATCCAATCAACCTCCACCTCCCTTACCTCTCCCTCCACCCTCACCCCGACTTTACCATTCAAACACCCATCGACCCCAATCTCCAAGATCACAGCACCCAATGCAGTCCAGGCCAGCACCTCAACGTCCACCTTCCCCACCAGCTTCAAGGGTGCCCCCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9749
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073584 None None 548 None 21
ENSDART00000121791 None None 548 None 21
ENSDART00000129484 Essential Splice Site 510 895 19 29
ENSDART00000131991 Essential Splice Site 524 674 17 18
ENSDART00000131993 None None 134 None 6
Genomic Location (Zv9):
Chromosome 25 (position 23406443)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 22585556
GRCz11 25 22683104
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTCAAACAAGACTAGAGCAAATCTCCTCGGTRGAAAACGAGTCTCCAGAG[G/A]TAAAGTCTACCACTCAACATCCCAATGTGTTGGTCTTGTTACTCACAGGT
Long Flanking Sequence:
GGGCGGTGTTTACATTATTCCGATGGGAAAAAAAATCTGTGTCGCACCAATTGCTGTTTGACTCACAGGTTGTAATTTGAGTTTTTCTCAAGGAGTACCACATAGATGTGGCTTTTACTGATTGCAGTGATTAATAAGGAGGAAAGAGAATGAGACCACTCACAGTACATGGCTGAAAGCACAAGCACACTTCTTTATGTTACAAACTAAGCTCAGAATCGATTCCTGAAAGAATCGCAATGCAATCCAAAAGTCTAAGGGTGGATCCATGAATCACAATACATCGATTCATTGTCCCAATTCTAATTTCCAATGCCAGTCCAGCAAGTTCTCAATGGTATCAAAGGTTCCATGCTGTGGCTGTGGCTTTACTTATCATCTAGGTGTCAGAAACTGAGAGGGAAGATTTGGAAGAATCTGAGAAAGTGCAACACTGGGTGGAGAGGCTCTGTCAAACAAGACTAGAGCAAATCTCCTCGGTAGAAAACGAGTCTCCAGAG[G/A]TAAAGTCTACCACTCAACATCCCAATGTGTTGGTCTTGTTACTCACAGGTTGATAGATCAGATTTCTAAGTATTTAAAGTATACCCTCAGATGTCTCCAACACGCTCCCCGGCGTCGACTGGTCCCACCAGGCGGAGGTTCCCTGGTGGCTTGACGTTGGCCACTACTGATCTTGATGACATCAACTTAGATGATGTGGATCAGAGTCTAAGGCAGCCTTTAAAAAGATTAGCCCCAACTCCACCTACATCCAATCAACCTCCACCTCCCTTACCTCTCCCTCCACCCTCACCCCGACTTTACCATTCAAACACCCATCGACCCCAATCTCCAAGATCACAGCACCCAATGCAGTCCAGGCCAGCACCTCAACGTCCACCTTCCCCACCAGCTTCAAGGGTGCCCCCTTCCTCAATCGGTCGTAGCCGGCCACCCCCTTCTGCCCCACTATTCTCCTCCAGGGGTCTATCCTCATTTCAGCCACCGCCCCCTCCCCCACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24680
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 > A
Consequence:
Essential Splice Site, Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073584 None None 548 None 21
ENSDART00000121791 None None 548 None 21
ENSDART00000129484 Missense 726 895 23 29
ENSDART00000131991 None None 674 None 18
ENSDART00000131993 Essential Splice Site 13 134 None 6
Genomic Location (Zv9):
Chromosome 25 (position 23411277)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 22590390
GRCz11 25 22687938
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTATGTTTCAGCCCCCGGAGATGCTAAAGCGGATGGTCACATACAACACG[T/A]CCTTTAAATCCAGCAAGAAACAAGTAACTGTCATCATTGCTTTTCATTAC
Long Flanking Sequence:
CAGTGCTGTTAAGCAGTCAGTGTATTTGTAAAGCTCACAGATGGCTGAATTTATAGATAATAGCTAATAGGCCTATTTGCTATGGGGAGATAAACCTTAAATGGCATGCAATGAGATGCAACAACTGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCCTTGTATACCAATAATAGTACATTTTGACTTTGGGGGTACATGTTTGTGGTCCCAAGAAGGCAAAAAGGCTAATAAATCCCACAGAAGGAAGTGGTTTGTGTAAGATGTAAAAATGCAGATTGTTTCTTTTCTTGTGAGTGCTTTGGTTTAGGTGTAAGTTTGTGAGGATAGAATATACAGTCTATAAAAAGCATTATGTCTATGGAAAGTCCTCGTAAAGATAGCTGTACGACTGTGTGCGTGTGTCATTGTGTGGAGTTTTTAAGAGTCATTCACAATTGTGTATGTTTCAGCCCCCGGAGATGCTAAAGCGGATGGTCACATACAACACG[T/A]CCTTTAAATCCAGCAAGAAACAAGTAACTGTCATCATTGCTTTTCATTACTCCCCCTCCTCTCTCTAAACACTCTGGTCCTCGAGTGAAACTTCTGCTGTCTGAGAGTTTGCATCTGCATGTGAATTGCATACTACATTTCTAACAATATTCCATAGACATCTGTCTGTGTTGATAGAAATCTCTATGTACTGATTTTAAACTGGTTTGTTATTTTAAAAGGGTAAGGAATGTAAAAACTCAAAACCTGTGTGCGTTTGCAGTGCTATTGTTTATTTATAAGCAAAGTAGGCATTTAAATATAAGTGTGAATTAGAAGTCGCTGAGACTTACGTTTCAGTATGTTGATGTACTTCCAACTCAAACAGAATACTGATTAGGGGGCAGGGCTTTCTTTGTGCGCATCATTCTCTTATAGCAAACGAACGGTAAGAGGGACATGATTAAGAATCCTCTCAAAGAACGAAGAACTGCCTCTCCAAACATAGATGTAAATAGTCA
Associated Phenotype:
Not determined