Busch Lab

ZMP

b3galnt2

Ensembl ID:
ENSDARG00000046133
ZFIN ID:
ZDB-GENE-050522-358
Description:
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 [Source:UniProtKB/Swiss-Prot;Acc:Q502B3]
Human Orthologue:
B3GALNT2
Human Description:
beta-1,3-N-acetylgalactosaminyltransferase 2 [Source:HGNC Symbol;Acc:28596]
Mouse Orthologue:
B3galnt2
Mouse Description:
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 Gene [Source:MGI Symbol;Acc:

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa35598 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa35598
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
ENSDART00000067824 Essential Splice Site 133 413 4 10
Genomic Location (Zv9):
Chromosome 13 (position 50785649)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 49497437
GRCz11 13 49788115
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCTGCTATATGAAGTTATGCTGATTATTTGAGCTGTTGTTCTTCTGCA[G/A]GGGTTTGAGGGATCTCTGCTCTGGGAAGCTGAGGACTCCACTGCTCTGAT
Long Flanking Sequence:
CCAGCTGCAACCCATCACTGGGAAACACCCATACACTCTCATTCACACTCGTACACTGACCAATTTAGTTCATCAATTCCCCTATAGCGCATGTGTTTGGACTGTGGGGGAAACCGGAGCACCTGGAAGAAACCCACGCAGACACGGGGAGAACATGCAAACTCCACACAGAAATGCCAACTGACCCAGCCGGGGCTTGAACCAGCGACCTTCTTTTCTGGAAAAAGTCCATTGCAAAATGTAAACAGAATTACTAAGAAAACAACAGAATTGCGAGATGTGTCATAATAAATCATAATAGAGTTGTGTCATCTAAGCTAACCCTTTTCAAAGCACTCTGAATTGCTAATTGTACACTCTGAATTCTTAAAGTCCTAATTAAAGTGAAGTAAACTGAATTATTAACACAAACAGAATTGTGCGATGTACTTTTCTTCTTTATCTTTCTGAATGCTGCTATATGAAGTTATGCTGATTATTTGAGCTGTTGTTCTTCTGCA[G/A]GGGTTTGAGGGATCTCTGCTCTGGGAAGCTGAGGACTCCACTGCTCTGATGTCTGTCAACACGTCAGCACTGCGGCTCAATAACGGGGGAGGAGTTCTCCACTTCAGATCGGTCAGACAATCGGCTTTTTTGTGTTTTAGATGAGAATGAGGAGATGCATTAGTAGGTCCAATCCCAATTCTATTTTTGTACCTCTTCCCCTTCCTATTGACCCTTGGAATAGAGTGTGAAGGGGAAGGGCTTCAAAATTTACCCCTGAGAATTGGGACAGCGCTACAGCACCTGCACACCTCATCATATGTCATCGTGAGCTCTTGCTTCATATGAGATCAGATGATAGCAACTGCTGTAGTGATTCCAGTGGTGCTATTTTTTGGTTTTTATCTTTAGGAAATCACTGAAAGCATATATCATGTTATCATATCGATCTAATCTGTGAATAAAATCGTAACTGTACTGTGTGTTTACACCTTGTTAACACATGAAAACAACATTAGCAT
Associated Phenotype:
Not determined