Busch Lab

ZMP

jak3

Ensembl ID:
ENSDARG00000010252
ZFIN ID:
ZDB-GENE-070725-4
Description:
Tyrosine-protein kinase [Source:UniProtKB/TrEMBL;Acc:B0V237]
Human Orthologue:
JAK3
Human Description:
Janus kinase 3 [Source:HGNC Symbol;Acc:6193]
Mouse Orthologue:
Jak3
Mouse Description:
Janus kinase 3 Gene [Source:MGI Symbol;Acc:MGI:99928]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa45312 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa45312
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
ENSDART00000049469 Essential Splice Site 190 1103 4 23

The following transcripts of ENSDARG00000010252 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 13908799)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 13354143
GRCz11 8 13391848
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGCCAAAGAGAGAAACCAGAGCCTTGCAGAGATCTGCAATACAACAAG[G/A]TATGTTACAACAACAACATTTAGAACATCTTATAAACACTCATCGGCCAC
Long Flanking Sequence:
GCTAATAATTAATAATACACATTCACATTGATTTTTAGAGTGCAAATAAAGTTAGAAAGTAAAATGTGTGTTTGAATTAACAAATGAAATTAGATGATTGTAAAGCTTTTGTGTGTATGTTTAAGGTTTTTCTTCTCAAGCTGGTTTGGTCAAGAGTCGAGAGCATCGTACCGCTTTAGCCTCAGCAAGGGACGAATCTTTGCTGTGCTGGACTATGCTGTCATTGACTATGTTTTTGCTCAAGTAATAACTATTATATGTAACTATTACTATTAGATTTAAATCATTATAAAAAGGTAGCATAAGTTTCTGATTTAAAATCATTTACCTTACGGAGAAGTTTTCCTGTTTCAGTCCCGCAGTGATTTTGTGACTGGATGTGGTGGGATTTCTCCTGCATTGAGTTTGCAGCAGGAATGTTTAGGTTTGGCAGTGCTGGATCTGTGGCGTTTGGCCAAAGAGAGAAACCAGAGCCTTGCAGAGATCTGCAATACAACAAG[G/A]TATGTTACAACAACAACATTTAGAACATCTTATAAACACTCATCGGCCACTTTATTAGGTACCACTTTATTAAGTGCAACTGCTGGCATATTTCTAATTAGCCAATCACATGGCAGCAACTCAATGCATTTAGTTACGTAGACATGGTCAAGTCGATCTGCTGCAGTTCAAATCGAGCATGAGAACGGGAAAGAAAGGTGATTTAAGTGACTTTGAATGTAGCATGGTTGTTGATGGCAGACGGGCTGGTCTGAGTATTTCAGAAACTGCTGATCTACTGGGATTTTCACTCACAACAATCTCTAGGGTTTACAGAGAATGGCCTGAAAAAGATCAAATATCCATTTGAGCGGCAGTTCTGGGGGCGCAAATGTCTTGTTATTGCCAGAGGTCAGAGGAGGATGGCCAGATTGGTTCTTCTAACTGGTAGAAGGCAACAGTAACTCAAATAACCACTCGGTACAACTGAGGTATGATGAAGAGCATCTCTGAAAGCAGAA
Associated Phenotype:
Not determined