Busch Lab

ZMP

uaca

Ensembl ID:
ENSDARG00000069250
ZFIN ID:
ZDB-GENE-050419-37
Description:
Novel protein similar to vertebrate uveal autoantigen with coiled-coil domains and ankyrin repeats (
Human Orthologue:
UACA
Human Description:
uveal autoantigen with coiled-coil domains and ankyrin repeats [Source:HGNC Symbol;Acc:15947]
Mouse Orthologue:
Uaca
Mouse Description:
uveal autoantigen with coiled-coil domains and ankyrin repeats Gene [Source:MGI Symbol;Acc:MGI:19198

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa23283 Essential Splice Site Available for shipment Available now
sa23284 Nonsense Available for shipment Available now
sa23285 Essential Splice Site, Missense Available for shipment Available now
sa7446 Missense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa23283
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
ENSDART00000100628 Essential Splice Site 111 561 5 17
ENSDART00000146957 Essential Splice Site 106 761 4 14
Genomic Location (Zv9):
Chromosome 18 (position 19841848)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 20072071
GRCz11 18 20061137
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTGGCTGCAGCCGGCGGTCACTCTGTGTGTGTGCAGAGTCTGCTGCAGG[T/C]ACGTGCATTATGTTTTCCCGCTAACAATTGCAGGAAGAAAGAGTAATGAG
Long Flanking Sequence:
AAAACATGACTTTCAGTAATATTAACGAATGCAGTATAACATTTAAATTAATAACTTATTGCAATAAAAACAAGAACAATCACATTTATCATACAGTGGAGTTCAATGCTGAATACACTAGTAAAGCACAATCCACTATTGCTTTGAATTGTCCTCTATCCGTCAGGTGACAGTATGTATATTTAGAGTAAATCTGATTAGTTTACACCATTTAATTTCAGGTAGCTTTTAGCAAACAAACAGAGGGTTATGTTAAATTTTAATTCACAATCTCTAAACCATGCCTATCATTCTTCCTCTCTTCTTAGATGGCCCCTGGGCTATAGTTTGGGCATCTCTGGTTTAACAGTTTCAAGCTTTTTGGAGGTTATTGTATGTTTGCTTGTAAATGTAATTACAATGTAATGTAATATAAATAATTTGTCCTCTCTCAGGCAAAACAGCTCTTCATCTGGCTGCAGCCGGCGGTCACTCTGTGTGTGTGCAGAGTCTGCTGCAGG[T/C]ACGTGCATTATGTTTTCCCGCTAACAATTGCAGGAAGAAAGAGTAATGAGAAAGCACTTTGGAATGTGTCAGTGTTGACGTATAACCAGCCCTTCAGCGATTACACTGGCAAAGACTGCTCAACGTTTTCTTTTCTTTCCTTCACCGCTATGCTTTTTGTTTTATGTCTAAATCCCATGTTTATTTGCTTCCTTCTTTCTCTGGACTTTCTTTTTGCTTTTGATCTCCACATAAAGCTGCGTGCTTAAGGCAAGGCTGGAGCAATTTACTGCACTTTTTTGTATCATAGCAACAGTTCTTTTGCTCACAAATGTGACGCTGAGAATTTGAGGTGTGTTATCTGTGGTTCATTTGTGATTTCTCTTTGGTGAAGCTTTCATGTGTCTGCAGCTGTAATTAAATATTGGAAATGAATGCAAATGAGTTTCAATAAGCAGTCAATTGCATTAAAGCAGCATAGCAAAAGATATAAAAAAACATGGACAAAGTGAAGATATCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23284
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100628 Nonsense 253 561 10 17
ENSDART00000146957 None None 761 None 14
Genomic Location (Zv9):
Chromosome 18 (position 19850316)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 20080539
GRCz11 18 20069605
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTCTAGTTTTTAAATCTTGTAGAAGATCCTCCCACGTGGTCTGTTTGTA[T/A]ACTGTGAAGCGTGCTCTATTGCACAGGTCTCAAACTGTAAAATTAAATGT
Long Flanking Sequence:
GTTTCTCAGATTGCATTGCTTTAACAAATTAAGTTAATTAAAATTTAAACAGTATTTTTTTTATAAATGATATAAAAATATTTAAATCAATGGGTCACTTAGAAAAAGCTAATGCAAATAAAGAGATTTGTTAACCTTCACAAAAATAGCCATATCTTGTTATTTCTTAAGTAGATACCATAACAATTGATTAATAGTTTCTCCCTCTGCCCCACGTCTTATTTTGTGATTTATTTGTTGGTAATCTGTCTAGGACTGCGCTAATCTTAGCTTGTGAGAACTCCTGTAAAGAAGCGGTGGAGATAATCCTGAAGACTAAGGCTGATGTTTTTGCTATGGATGTTCATGGGCATGACGCCTATCACTATGCCAGAAAAAGCCAGAAACAGGACTTGATCACACTTGTCCAACATGCACTGGAAAGTGCAAAAGGTAACACTCCAGGATGACATTCTAGTTTTTAAATCTTGTAGAAGATCCTCCCACGTGGTCTGTTTGTA[T/A]ACTGTGAAGCGTGCTCTATTGCACAGGTCTCAAACTGTAAAATTAAATGTAATACTTTAAGATAATCTATATCTCCAGTGTACTTTTTACTCTCCATAAAAATGTTGATAGAAGCTGGCAAGGTGTTAAACACAAACAAACTAAAGGTGACACAGTTTGAAATGGAACTGAACATTTTGTCCTGTTTTTAAGCAATATACATGCACACGGTGAAATGAAACGCCACTTAATCTTAAGGCCAGAAATGCTGTATTTTTCAGCAAGGCAGGGCAAAGTGGTGCTCTTGTTATCCTCTCATGTAGCTTTTACTGGACCTGCTGGTCATGCACATAGCAGGTCAGTTGAGTTTAAACCATGAACCAGTAGCGCACTGTCATTTCTGGATTATGTCGTGTCATTACAGAGACGTGTCTGATAGATTCAATTCCTGCTGTGCTCACAGAGACTTCACAGATCCAAACACTAACAGAAAATCCATTTTCACGAGTTGACAAGTCTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23285
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:
A > G
Consequence:
Essential Splice Site, Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100628 Essential Splice Site 390 561 None 17
ENSDART00000146957 Missense 285 761 11 14
Genomic Location (Zv9):
Chromosome 18 (position 19856867)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 20087090
GRCz11 18 20076156
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGAAAGAGTGTGTTTTACTTTAACATTAGCCTTGTGAATTATTCAGGTC[A/G]GGCCCCCACAGTCGGCTCCAGCACCCGTGAGATCTGCCCCGATGGAGTTA
Long Flanking Sequence:
TCGGAGTCAAATCTTTTATGAATAAAAATTGATAATATTTAAACAAGGTGCACTCAGGTTTAAACCTCAGCTGGATGTTTTCATTCATTTAGAGCTGTGTTGGACAGTAATTTTCAGAAACCCATAATAGGAGCTCTTTAACATACAAAAACTATTTTCACTAAACAAATGCATGTAGATTTAACCAGTTACGAACTGGCAAGTACAATGTTGAATTTCATATAAAATTTCGTAGAAAAAAAATACAACAAAACTAAATAAAAACCACTAAATAATTGTTTTTTTGATTTCAGTGACTCAAGTAACGTGGCTGAATCACTTTTAAAATGCAAGCACTTTTCTGAGAGTATATAGAGATTAAAGGGCAAAATCCTCAATCGATGTCATCCATATTTTATATCCCATATTCATCAAACTGAACATTTACTGCTGTTGAATTAAAATCGAGACATGAAAGAGTGTGTTTTACTTTAACATTAGCCTTGTGAATTATTCAGGTC[A/G]GGCCCCCACAGTCGGCTCCAGCACCCGTGAGATCTGCCCCGATGGAGTTATTGCCCGGCGAGGTGGAGGCCCTCAGGAGAGAACTACGAGATGCTAGACGAAGACAAGAAGCAGCAGAGGCTGAGGTGCACAAGCTGGATGCGGCACTAGCTCTGCGGGCTCAGGAATATGAAGCACTGAGAAGATCCAGCGAACAAGCTCTTCACGCATCCCACAACAGAGCATGGGAGCTGGAGGAGGCATTGGGTGAGGTTCAGAGAAGGATGGCAGGATCAGAATCCCGCGTCAGGCAAATGCAAGCTCATCTAATGGCCGTCAGAGAGCACTTGGTGGAGGAGCTGAGAGTCCAGCTTCATGAGGTTAAAGGTCAGCGGGAGGCAGCCGTAGCCGAACTGGGAAGAATGCAAAAGGAGCTCCATCAAAGCAGGAGGGATGTGGAGAAGCAGAAGGAGAATCAGAACTCCTTGATGCAGGAACTCAGCCGGCTTTCTCAGGAGCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7446
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:
Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100628 None None 561 None 17
ENSDART00000146957 Missense 729 761 13 14
Genomic Location (Zv9):
Chromosome 18 (position 19863402)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 20093625
GRCz11 18 20082691
KASP Assay ID:
554-4083.1 (used for ordering genotyping assays)
KASP Sequence:
TTTCTTTTTTGCAGGAGTCTGGGAGGCATTACAGACATGTGCTTTCAGTA[T/A]ACAGAACACGGTTGCTCAGTGCAGCACAGGTAGCGTTTKACTTGCTTGTG
Long Flanking Sequence:
TAATAAAAAAAGAGGAAAGCCTGAAATGGTTCTTTTTTGTCATTGCTGTAAAAAATCCCTTGGGAACCTTTAATTTAAGGTGTGCAGGTTCAAAATGGGTTGCCAGTGTGTTACTTTTGGATGTTTCTTAGCAACAAGGGCATCAGAGGACATGAGGTATTATCTTGAGAGGCCTTTGTCCCTGCTAATTCAACAGTAGCAATGTTTGCAATCCCACAGAGTAACATGAAGATGTCCTCTTATATTAAATGAAGTCTGCTGTGACTCTGATGGCAATGATCATGAATTACTCTCAAGAGTCATCTTAACTTTCTTCAAAGTACTTGCTGCAAAATAGAGCAGTTGTCGACATGAACTGCTTGTTCAACATGCATTGTACATTTCTAAATGAAAGTTTTATACATTATTCATTGTTCTTTTGTACCTGATGTGAGGGGGAAAATCACTTGTTTTCTTTTTTGCAGGAGTCTGGGAGGCATTACAGACATGTGCTTTCAGTA[T/A]ACAGAACACGGTTGCTCAGTGCAGCACAGGTAGCGTTTGACTTGCTTGTGTTGTATAATGTATGTTATATAATGCTCTTTCCAAGTAAACCTGTGAAAATGGCTGCTTTTACAGGGTTACATGGATGAAGAGGCAAGAGTGGCTCTGCTTCAGATCGCTAAAATGAGGGAGGAGTGTGTGTGCTGAGCATTCATGTTTTCTGTTCCTGTATATACATTTCTGCTCAAAGATCTAGAATCTGTCAAACCAACACAATCTCACGGCAATTCGTATATTTTTGATTCAGTGGCTAATTCATTTGAATTCGTACGATCTAATTCATACAGTTTAGTACGATTTGCTCATCACCCAATGATGGTTGGGGTTAGGGGTGGGGTTTCTTGAATCGTACATTTTCTTACAACTGAACTCATACGAATTCGTACGAATTAGCCACTAAACGGACAAAACGTAAAATACTTATGTTTCCTCGTGAGATCAGGCTGGTAAAAATTCAATGT
Associated Phenotype:
Not determined