Busch Lab

ZMP

uba5

Ensembl ID:
ENSDARG00000063588
ZFIN ID:
ZDB-GENE-031112-2
Human Orthologue:
UBA5
Human Description:
ubiquitin-like modifier activating enzyme 5 [Source:HGNC Symbol;Acc:23230]
Mouse Orthologue:
Uba5
Mouse Description:
ubiquitin-like modifier activating enzyme 5 Gene [Source:MGI Symbol;Acc:MGI:1913913]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa30045 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa8521 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa30045
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000093046 Essential Splice Site 65 399 2 12
Genomic Location (Zv9):
Chromosome 24 (position 9490131)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 9549015
GRCz11 24 9689401
KASP Assay ID:
2261-8447.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAGTCGTCTAATGGCACTTAAGAGAATGGGGATAGTGCAAGACTACGAG[G/A]TAAACATGCTTGTCTGTTATTTTACGAGACTTTACCAGTGTTAAAACAGC
Long Flanking Sequence:
GTTCCTTGGTGTTGGTTGTTGCACTCCGGGCTCAATATCGAGAGACACTCATCCTCGCCAGCTGATTTGTAACAGTGCAGACGTGTACATGAAGTAATATTTTAATCTTTTTTTCCTCTAACGTCACTGTGCCTTTTTTCATCAGACAACACCAACCCGAGTTTAGCAGAATAGAGCGTTTTTAGAGAAGAACATGGCCACCGTTGAGGAACTCAAGCTGCGAATTCGTGAGTTAGAAAATGAACTAATCAAATCCAAACAGAAGCAAAGTGATGCTGAACACAATATCAGACCGAAAATTGAGCAAATGAGCGCCGAAGTCGTAGATTCAAATCCATATAGGTGAGCATTTACGTTCTTTTTCATTTTTAATCACTAATTTTGTATTTAGCCATATGGAAAGCTTGGTTTGCTGCAAGTGTCATCTTAAACTCCTATTTCTAATGCCTTCCAGTCGTCTAATGGCACTTAAGAGAATGGGGATAGTGCAAGACTACGAG[G/A]TAAACATGCTTGTCTGTTATTTTACGAGACTTTACCAGTGTTAAAACAGCTTGTTCGTGTTCAGATGATTATTGTCCACCTGCTGTCATTCTCAGAAAATCCGCTCGTTTGCTGTGGCGGTGGTGGGAGTCGGTGGGGTGGGGAGTGTCACTGCAGAAATGCTCACCAGATGTGGCATTGGTAAGGTAATACACCCTTATTCTTATTCCTCGATATTAAGTCATGGTGCTGGGTAATATGACAAAGATCATTAGGGTAAAGTTGGTTTTATATTCACACATTCTTTCGTTTTTTAACAGTCCTTATAATGTTTACTAACTACTTTAAATATTCAGTCCTAAATCCCATGTACAGTAAGTATGACTTTAAAACAACATAACCAAAATTCATTTGATCGTGAACAGTTGTTGTACTTTGATAGTCATTGGCTGCTGATATGATTTACCTATTTAAGATTCACAAATAATATTTTTCTGACAGTATAATAAGAAAAGGTAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8521
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
ENSDART00000093046 Nonsense 282 399 9 12
Genomic Location (Zv9):
Chromosome 24 (position 9479261)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 9538145
GRCz11 24 9678531
KASP Assay ID:
2261-8446.1 (used for ordering genotyping assays)
KASP Sequence:
TGTTTTAGGTATCTGTTGGGCTTCGGGACGGTGAGTTWTTACTTGGGCTA[T/A]AATGCCATGCAGGACTWCTTCCCAAGCATGGCAATGAARGCCAACCCACA
Long Flanking Sequence:
CATGTTTAAACAACATTAATTGAAACATGTAATTTCTGTTTGTTTGTTTTTTGTAGCTCCACAATAAAACAAACAAACAAAAGGTAACATTAAAATAGAAATGACAATCTCTGTTAAAGGCATGCCCCAACCCTTCCCAATGCTTTTCCCTCTGGCAGGCCAAATCAAAGGATACAAAGGAGGGCCCTTGTTTGGGCATCTCTGAGGTAGAGGCTGAGTAAATGATGACAGGGTTTTTATTTCTAGGTGAACTATTCATTTACATGTTGTAGTTTCGCATAAATGCCATCAGGTGGCGAAATAAAGCCATTTTTGCCTTAACGGAGGCTAAGTGATCCAACTAACCAAACAAACCGTTTACCCCTTACTCATTTTAAATCTTCAGAAATCCTGGCACGTTAGCATTGTTCTAATGGACTTGTTAAGCATGGTCTAGAATGAGATTGTCTGTGTTTTAGGTATCTGTTGGGCTTCGGGACGGTGAGTTATTACTTGGGCTA[T/A]AATGCCATGCAGGACTTCTTCCCAAGCATGGCAATGAAGGCCAACCCACAGTGTGATGACAGACACTGCAGACGACAACAGGATGAATACAAGGTGACACTTCTTAAAATCAACACTATTATTTTGAATGTTTTTGCACTTTTTTAGATGGTAATAATGATTGATGGTGGTTTTTAGTTAATAATTAAATGAGTACAAATACTTTAAGCCTTTTACTGCCTCTTTTACCACCAAATGGTTGAAAATATTTTAAATAATGGTCCACACACACCGCATTGTTATTAGTTAACAAAATAATCAAACAAAAATAAGTCTGTTGCACTACTTCTCTTGATTTTGGTTTTACTGAAAAAAAACAACAACAACAACAACAAACAAACAAGAAAACATGTTAAATGAGAATCTGAAATATTTTATGGCATACTTCAAAAAATAAAGATGATTTAGAATAAAATATTTATTTTTTTATAAATATATTTCTAAATAAATTGGTCTTACCC
Associated Phenotype:
Not determined