Busch Lab

ZMP

LOC557135

Ensembl ID:
ENSDARG00000076079
Human Orthologue:
USH1G
Human Description:
Usher syndrome 1G (autosomal recessive) [Source:HGNC Symbol;Acc:16356]
Mouse Orthologue:
Ush1g
Mouse Description:
Usher syndrome 1G homolog (human) Gene [Source:MGI Symbol;Acc:MGI:2450757]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa16399 Nonsense Available for shipment Available now
sa19046 Nonsense Mutation detected in F1 DNA Not yet available
sa10814 Nonsense Available for shipment Available now
sa24923 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa16399
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
ENSDART00000110162 Nonsense 124 488 2 4
Genomic Location (Zv9):
Chromosome 12 (position 47662323)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 46291563
GRCz11 12 46592555
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAGGAGCCACATGGACTGTGTTCGRTATCTGGACTCRATCGCCGCCAAA[C/T]AAATCACCATTAATCCTAAGTTGGTGAGCAAACTGAAGGAGCGAGGCTTT
Long Flanking Sequence:
ATTTTCACATCAAAAATTTACAGAATCAAGTCAATATACAAGTAAACTTTATTTTTAACCATTTTTAACCACACTTTTTTTTTTTATCTAAATATTTGACCAATTGCAATATTACCAAAAATAGTCCCATGCATTATCACATTGGCTCTATGTTCCTGGGTCAAATATACTCATTTTGGGAGAAGTCAATAACAAGCCCATATCTATCATCCATCAATTTAGCCCTTGTAAACTGCATTAGAATGTAATATAAATCTGTAAATAACCCCATGCACTTTTGTTATTATCTCCACAGAGGTGATCCAGATAAATGTGATATTTGGGGAAACACTCCTCTTCATCTGGCAGCAGCAAACGGTCACCTGAGCTGTCTGTCCTTTCTGGTGTCATTCGGCGCAAATGTTTGGTGTCTGGACAATGATTACCACACACCGCTGGACATGGCGGCCTCCAGGAGCCACATGGACTGTGTTCGATATCTGGACTCGATCGCCGCCAAA[C/T]AAATCACCATTAATCCTAAGTTGGTGAGCAAACTGAAGGAGCGAGGCTTTCGCAATGCAGAGAAGCGCATCAGGAACTGTGAGAAACTACAGCGCAAGCATCACCAGCGCATGGAGAGACATTTCATGAGGGAAAGTGCTGCATTGGATACGTCGGATACCATGAGTTACAGCAGCTTCAGCAGCACGTTGAGTCGACGGATGCCTCAGTTTAACACGCTTGACTCTATGACATACTCACAGGTACCGTATCTGAACACATGGGTACTCAAGACTGCTAATAAACCTTTATTTCGTTGATTTAGTAGTTGGGCCAATGTTAAAATGTGCAAAAATCACTTTTTATAAGCAGTTTGAGCACAGTTGTGTGGCAGCAGTGTGTGAATATAACCAGCTTCTGCAGAAACACTTTGATTTGATTTCTCCCTTTATACCTGTCATCAAGGGGAGAGGGGGAAAGCCCCGCCCACTAGTGACCGTCTCTCCCTCAGCATATGACGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19046
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
ENSDART00000110162 Nonsense 180 488 2 4
ENSDART00000110162 Nonsense 180 488 2 4
Genomic Location (Zv9):
Chromosome 12 (position 47662493)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 46291733
GRCz11 12 46592725
KASP Assay ID:
2260-5768.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATTTCATGAGGGAAAGTGCTGCATTGGATACGTCGGATACCATGAGTTA[C/A]AGCAGCTTCAGCAGCACGTTGAGTCGACGGATGCCTCAGTTTAACACGCT
Long Flanking Sequence:
TCATTTTGGGAGAAGTCAATAACAAGCCCATATCTATCATCCATCAATTTAGCCCTTGTAAACTGCATTAGAATGTAATATAAATCTGTAAATAACCCCATGCACTTTTGTTATTATCTCCACAGAGGTGATCCAGATAAATGTGATATTTGGGGAAACACTCCTCTTCATCTGGCAGCAGCAAACGGTCACCTGAGCTGTCTGTCCTTTCTGGTGTCATTCGGCGCAAATGTTTGGTGTCTGGACAATGATTACCACACACCGCTGGACATGGCGGCCTCCAGGAGCCACATGGACTGTGTTCGATATCTGGACTCGATCGCCGCCAAACAAATCACCATTAATCCTAAGTTGGTGAGCAAACTGAAGGAGCGAGGCTTTCGCAATGCAGAGAAGCGCATCAGGAACTGTGAGAAACTACAGCGCAAGCATCACCAGCGCATGGAGAGACATTTCATGAGGGAAAGTGCTGCATTGGATACGTCGGATACCATGAGTTA[C/A]AGCAGCTTCAGCAGCACGTTGAGTCGACGGATGCCTCAGTTTAACACGCTTGACTCTATGACATACTCACAGGTACCGTATCTGAACACATGGGTACTCAAGACTGCTAATAAACCTTTATTTCGTTGATTTAGTAGTTGGGCCAATGTTAAAATGTGCAAAAATCACTTTTTATAAGCAGTTTGAGCACAGTTGTGTGGCAGCAGTGTGTGAATATAACCAGCTTCTGCAGAAACACTTTGATTTGATTTCTCCCTTTATACCTGTCATCAAGGGGAGAGGGGGAAAGCCCCGCCCACTAGTGACCGTCTCTCCCTCAGCATATGACGTCAGTCTTGTTTTTGAATCTGCCACTATGCTGACACACAGGCATTTGTAGCTCCACCCTGTTCTAAAAAAAGAGCACAATTTCATTTGAATTTAAAGCAACAGTGACCAAAACGCCACAGATCACCTTTAAGACTGTTATGCTGTGTTCACACCAGACACAGAACGCGCGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10814
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110162 Nonsense 180 488 2 4
ENSDART00000110162 Nonsense 180 488 2 4
Genomic Location (Zv9):
Chromosome 12 (position 47662493)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 46291733
GRCz11 12 46592725
KASP Assay ID:
2260-5768.1 (used for ordering genotyping assays)
KASP Sequence:
CATTTCATGAGGGAAAGTGCTGCATTGGATACGTCGGATACYATGAGTTA[C/A]AGCAGCTTCAGCAGYACGTTGAGTCRRCGGATGCCTCAGTTTAACACGCT
Long Flanking Sequence:
TCATTTTGGGAGAAGTCAATAACAAGCCCATATCTATCATCCATCAATTTAGCCCTTGTAAACTGCATTAGAATGTAATATAAATCTGTAAATAACCCCATGCACTTTTGTTATTATCTCCACAGAGGTGATCCAGATAAATGTGATATTTGGGGAAACACTCCTCTTCATCTGGCAGCAGCAAACGGTCACCTGAGCTGTCTGTCCTTTCTGGTGTCATTCGGCGCAAATGTTTGGTGTCTGGACAATGATTACCACACACCGCTGGACATGGCGGCCTCCAGGAGCCACATGGACTGTGTTCGATATCTGGACTCGATCGCCGCCAAACAAATCACCATTAATCCTAAGTTGGTGAGCAAACTGAAGGAGCGAGGCTTTCGCAATGCAGAGAAGCGCATCAGGAACTGTGAGAAACTACAGCGCAAGCATCACCAGCGCATGGAGAGACATTTCATGAGGGAAAGTGCTGCATTGGATACGTCGGATACCATGAGTTA[C/A]AGCAGCTTCAGCAGCACGTTGAGTCGACGGATGCCTCAGTTTAACACGCTTGACTCTATGACATACTCACAGGTACCGTATCTGAACACATGGGTACTCAAGACTGCTAATAAACCTTTATTTCGTTGATTTAGTAGTTGGGCCAATGTTAAAATGTGCAAAAATCACTTTTTATAAGCAGTTTGAGCACAGTTGTGTGGCAGCAGTGTGTGAATATAACCAGCTTCTGCAGAAACACTTTGATTTGATTTCTCCCTTTATACCTGTCATCAAGGGGAGAGGGGGAAAGCCCCGCCCACTAGTGACCGTCTCTCCCTCAGCATATGACGTCAGTCTTGTTTTTGAATCTGCCACTATGCTGACACACAGGCATTTGTAGCTCCACCCTGTTCTAAAAAAAGAGCACAATTTCATTTGAATTTAAAGCAACAGTGACCAAAACGCCACAGATCACCTTTAAGACTGTTATGCTGTGTTCACACCAGACACAGAACGCGCGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24923
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110162 Nonsense 232 488 3 4
Genomic Location (Zv9):
Chromosome 12 (position 47665340)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 46294580
GRCz11 12 46595572
KASP Assay ID:
554-7796.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAAGATTCAGCGGAAACTTGAGAAGAAGAAGCAAGTTGAAGGAACGTTC[A/T]AGATTTCTGAAGACGGGCGAAAGAGTGTTCGTTCCCTCTCTGGTCTTCAA
Long Flanking Sequence:
TTTGTAAAGTCAACTTGTTTCTTTTAAGGCAATTAGTTTACTAGTGTAACTAATCACTTTTTACAGTGTATGTGTAACCCTGCCGGTCCTACGCCACCCAACCCGCTCCGAGCTGGTTTCGAACTGGCGACCTTCCGCATGGGAGTTGGTTGCGCTAACAAGGAGGCTAAAGACCATGGCCTCTAGCGACTGTTGCTAGAGCACCTTTAGAGGTCAGAGGAGTGAGGTTCACCTGCACAGCACTTCATTAGCTGGCCTCCGTTACACATGGTGGACTCTTAATCAGAGTATTGTTTTAATCATATTAAAATCAGATTATTGGTGTTCATGCAAATGTACTCAGTGTTAGGCAGTGCAAACATGTTTGTATGCAGTGTGAAGTATAACAAAGTGTGACTTCCATAAGCTTTTCTTTACAGGCAACGCTTCAGTCCACGGCTAGAGGCCGGACAAAGATTCAGCGGAAACTTGAGAAGAAGAAGCAAGTTGAAGGAACGTTC[A/T]AGATTTCTGAAGACGGGCGAAAGAGTGTTCGTTCCCTCTCTGGTCTTCAACTAGGAAATGATGTGATGTTTTTGAAGCAGGGAACATTTGTGGACAGACGCCATCAGTCCAGCCCTCGACTCAACATCCGCAACATGTTTTCTGGTAAATCGGACATCAGGCTGGAGGATGTAGATGATGAGGAAGACACTGTGTCCAGAGCGCTCAGTGATCCGGGTCTATATGAGGCTGCTTACTCTGAAATCAGCACAGATTCAGGACGAGACTCTTTATTCAACCGCCCGGGACTCGGGACGATGGTTTTCCGTAGGAATTATGCGACTGATGGGGTTTTCCGGACAGGACGGGGTGAGGGCAGTGTGGCAGGGAGTGAACCGGTGGGACGGGCCCCGAACATCCACTTACGGGGTCGACTGCCGCTTCGGTCACCCAGTCTGGATGAAGTCAGCATTGGCAGCTCTCTGAGCCTCCAGGAGAAGAACTTGCAGGTACAAACACAC
Associated Phenotype:
Not determined