Busch Lab

ZMP

zgc:171813

Ensembl ID:
ENSDARG00000074757
ZFIN ID:
ZDB-GENE-080204-35
Description:
protein ARV1 [Source:RefSeq peptide;Acc:NP_001107083]
Human Orthologue:
ARV1
Human Description:
ARV1 homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:29561]
Mouse Orthologue:
Arv1
Mouse Description:
ARV1 homolog (yeast) Gene [Source:MGI Symbol;Acc:MGI:1916115]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa25130 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa36951 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa25130
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113184 Essential Splice Site 72 239 2 5
Genomic Location (Zv9):
Chromosome 20 (position 4088885)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 4031154
GRCz11 20 4000455
KASP Assay ID:
554-7793.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGCAAAATCCAGGCGTTTAGGCATATCCTCTTCAACACTGAGATTAATG[T/A]GAGTAAAACTCATTTTTATTCATTAATTTTGCTTCAGCTTAGTCTCTATT
Long Flanking Sequence:
GTTCAGGTGTGTTTGATTAGGGTTGGAACTAAAATCGGCAGGACGCTGGCCCTCTAGGAACAAGTTTGGTGACCACTGTGATACAGCATCTGGGGGTCTGTGGCATACAAAAGATCCAAAACCCATGTTAAAAGCAAATGGTTTTAATTAAAATAAATAAATAAATAAATAAGCAAATGTGATATACTTACATTTTTTTGTTTGTTCTTACTGAAACAATGGAGTTTTTGTATGCCACATACCCCCAGATACTGTATGATCATCCTTATAGGAGGAAGCCCTGTAACACGCACAGATTATTTTATTTTAGTAAACATACATTTGTAGTTTGCAAATTCAACTGAATTCTGTTTGTTTTTTTGTTTTTCTTTCTTTGCAGAGTTCCTGTAGGAAGCCAGTGGACAAATACATCGAATATGATCCAGTAATTATTCTGATAGATGCCACTCTGTGCAAAATCCAGGCGTTTAGGCATATCCTCTTCAACACTGAGATTAATG[T/A]GAGTAAAACTCATTTTTATTCATTAATTTTGCTTCAGCTTAGTCTCTATTTCAGAGGTTGCCACAGCGGAAGGAACCGCCAACTACTCCAGCATGTTTTACGCAGCTGATCCCCTTCCAGCCGCAACACAGTACTGAGAAACACCCACACATACACTCATTCACTCACATACACTACGGTTTGGTGCACAAGTTTGGTGATCCCTGATATGGAACATACATTTCTAACGGCGGCGTAGTGAATACAAATGTAGTACATACTCGAGTGGTAGGCGATTTCGGACGCAGCCATAGTCTTGTATTGTGTGGACAGCCTGTGTTCTGTTCTATCACTCTCTGTTTCTGTAGATCCACTGGAAGCTGTGTGTGTTCTGTCTGCTGTGTGAAGCGTATCTGCGCTGGTCTCTCCTGCAGGGCTCTCAGTCCAGCAGTGACCCCGCCGATATCATCCGCTACACCAAAGAATGGGAGTTTTACTGCATGTTTGCTCTGGCGGCTCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36951
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113184 Nonsense 194 239 4 5
Genomic Location (Zv9):
Chromosome 20 (position 4084935)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 4027204
GRCz11 20 4004405
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCCGCTCTGCTTCAGCCTCATACGACTCTTCGTTCTCACCTCCAATTCA[C/T]AAGCCATACGAGGTGAATATCCTCAAACACCCGCTCTTTTACAATCCACA
Long Flanking Sequence:
TCTAATGCTTTCTAATGTGTATTTGATTTTAACTAACATATAAATGTATTATATTTTGCACTCTACAGTCACTCTTATTTGATAGGCTAATATAATAACGTCCTATGGCATTGGTTTTGCTAACAGCAGGTATTTATAACCTGTATTAACACATTTGAATCAGTTTTATCTGTTTTTAATAACTTATATTTTTTGTTGTTTTCTTATACTTGTTTCTTTTATTACACTTTGTATTACCGTTGTGTATGAAATGTGCTATATCAATAAACCTGCCTTGCCTTATGTTTCCAGAGCTGACTGTGTTCTTCATCGGGGTGCTGGTGATTCTCTGGATGGCGCAGTGTTTCTCTGGCGCGTCTTTACAGTTCGCTCCTCTTCTGAAGGCTCTTCTGCTGTCCAGCTTTGGCAAAGTGCTGCTGATTCCAGCGGTGATCTGGGAGCATGATTTCTCCCCGCTCTGCTTCAGCCTCATACGACTCTTCGTTCTCACCTCCAATTCA[C/T]AAGCCATACGAGGTGAATATCCTCAAACACCCGCTCTTTTACAATCCACACATTAAGGCACAACCCCAATTCTATATTATACTGTACATCTATATACATGTGTCTCATACTCTACGTCTTTGGCTAAAACTTCACCTTCCCCTTGGCCGTTGAAACAGAATAAGAAAGCGTAGGCATAGAAATTTACTAGCATAGAAGCTAATGAATGTTGCGTGCTTTGCTAATGCATCAATTTTCCATCCATACATACAGAAATTAAGTGTAATGCACTGAGTGAGCATTGCCGCTAGTCTTCCGTATGAATGAACTACAAACCTTGCGAATCCTGATGTCATGCGCTCCAGCACAAAGACAGTTGATACAGTGGTTGCCTAGTAACATAAAAAGCACAGCGCATTGCTCTTTCAAACAAAAGGCAGTGTGTTGTGTCTTGTGTACAAGCCTCTGGGTGTCACAATATATAAACTAAATATAAACTGCAATAATATACGTATTTACAC
Associated Phenotype:
Not determined