Busch Lab

ZMP

zgc:113333

Ensembl ID:
ENSDARG00000038242
ZFIN ID:
ZDB-GENE-050320-57
Description:
hexosaminidase D [Source:RefSeq peptide;Acc:NP_001013509]
Human Orthologue:
HEXDC
Human Description:
hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing [Source:HGNC Symbol;Acc:2
Mouse Orthologue:
Hexdc
Mouse Description:
hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing Gene [Source:MGI Symbol;A

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa11180 Nonsense Available for shipment Available now
sa19979 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa11180
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055766 Nonsense 168 471 5 11
ENSDART00000130029 Nonsense 168 573 4 13
ENSDART00000145277 Nonsense 168 254 6 8
ENSDART00000145539 None None 36 None 4
Genomic Location (Zv9):
Chromosome 3 (position 18572970)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 18601332
GRCz11 3 18751072
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTCACAAAAAGTCCGGAAGATRTAGAGGAAATTAAGTCTCTGGCTAAA[C/T]GACAYAATCTGGAACTGATACCTTTGGTGCAGGTGTTTGGACACATGGAG
Long Flanking Sequence:
CACAAAAAAATTCAACTAAATTTTTCCATTTATTTATCTTCCCTCGATTTTTCTCCTTTTTAAATTTGTATTTAATATTGTTCTATAACATAAATTTGGGTGCACAATTTTTTGATCTATTAACAGCTATCTAACAGTTATTGGCAAGTTATTAAATATAATATATTGTAGAGCTTCCTATTAAAAATGTGGATTAAAAAATAAATTTGTAAGGGGTGTACTTATATGCCGAGGAGCAATGTATATCAAACTTCTAAAATGTAAAAAAAAAAAATATTGCTAATACATTTGAAAGTTTAAGTAAATATCTATTGAAGCTTCCTCTGTAACTCTAAGCCTTTCAATTCATGGATAAAATGTTGCTAAAATATATTTAGAGATCATAAGTTGACAGTTTCTATGCATGTATTTTTATGAATGCAGTATATTTATCACTTGTTTGTCTTTTATTGTTCACAAAAAGTCCGGAAGATATAGAGGAAATTAAGTCTCTGGCTAAA[C/T]GACACAATCTGGAACTGATACCTTTGGTGCAGGTGTTTGGACACATGGAGGCAAGTAGAGATTTTATCAACAAAAAATCTCAAATATGTGCATACTACATACTTCAGTGCAGTGCTAAAGAGGCATTTACATTTTGTTTTACAAGTGGATTCTTTACATAATGTCTAGTTCAACCATTTCTGATAAATGTGTGGAGGCAAAAATCATTCAAATGCTGTGGATGCGTTGCAGCTCTGCTTAACCAGGCTTTCTGTTCACATTTCAGTTCGTCTTAAAACATGAAAAGTATTTTAAATTGAGAGAAGTGGAAACGTTTCCCAATAGTCTAAACTCTCTGGCCCAAGGAAGCATGGAACTCGTTCAAAACATGCTAATGCAGGTTATGAAGAAGCACCCAGAAGCACGGTGGTTCCACATTGGTGCCGATGAGGTCTGTGGATTTCTATTCTTTGCAGATCAGAATTATAAAGACATAAATATAACCATAATAATCATTTTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19979
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055766 Essential Splice Site 325 471 8 11
ENSDART00000130029 Essential Splice Site 325 573 7 13
ENSDART00000145277 None None 254 None 8
ENSDART00000145539 None None 36 None 4
Genomic Location (Zv9):
Chromosome 3 (position 18570337)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 18598699
GRCz11 3 18748439
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCACCCATGATATGGAACTACCATGCAAACTTGAACGTGAAGGACATTGG[T/A]AAGGCCTGGCTCTGTTACTTATACCTTAATAAGGTCAATATGAACAATCT
Long Flanking Sequence:
CGTTAGCATCAGTAGCATTCGAGAGTCTGAGTGCTGCCTCGATTGCGTCCTATTTTAGACACTTGCATTTTTCAATCATTAAAGTTTGGCTAGGTTGTAACATAATTTTTCTGTTAAGTGACAAACACAGAACACTCTGAATTGGATTGTTGCCCAAACATGTATGGCTGTAAAAAACTAATTAAGCTAACGTTATATCGTTAGCAACAGTAGCATTCGAGAGCAGTCTGAGCGTGGCCTCGAGTGCGTCCTATTTTAGACACTTGCATTTTTCAATCATTAAAATTTGGCTAGGTTGTAACATGATTTTTTTGTTGAGCGACAAACACAGAACACACTTTTTAATATCACTTAAAAAACACACACACAACGTCACCATAACTGGAAAGCACATTTTTGACCCTGACATGATTTTTTCCCTTTTCAGAATCAGGTTTGCAAGATCTTGCTTCACCCATGATATGGAACTACCATGCAAACTTGAACGTGAAGGACATTGG[T/A]AAGGCCTGGCTCTGTTACTTATACCTTAATAAGGTCAATATGAACAATCTTACCCAATTACCCATTAGCTTAAAATATCTTCCTTATTTTGAACGGAGTTCTTATACCCATGAGAAAATAAAATTTTGATTTAATAATCTTTTTCTTGTATTTTAATCAAATAAATACAGTCTTTGTAAGCTCTGTGACTAGGTCCGTCATGATATCTAATTTTTGTTGTACAATATATTGCACCAAAATGTATTGCGATAAACAACATTATTGTTATTTTAAAGCAGCTATGATAAATCATCTTTTGTAAGCTGTTTAGACAGAACTGTGTGTAGGTATAGTGTGTCCACAGACATATTTGGGTGGTATAAACACAATAAGTCTTCTTTTTTTTTTTTTTTTCCTGACGTTAAAATAGGATGCAAATTCCTCCCATTTTGAGGCCCACCACAACATGGTGAAGGATAATTATATCAATGAGACAGGACGTCCACAAAGCGACCAGGATT
Associated Phenotype:
Not determined