Busch Lab

ZMP

kdsr

Ensembl ID:
ENSDARG00000012021
ZFIN ID:
ZDB-GENE-040426-853
Description:
3-ketodihydrosphingosine reductase [Source:RefSeq peptide;Acc:NP_957433]
Human Orthologue:
KDSR
Human Description:
3-ketodihydrosphingosine reductase [Source:HGNC Symbol;Acc:4021]
Mouse Orthologue:
Kdsr
Mouse Description:
3-ketodihydrosphingosine reductase Gene [Source:MGI Symbol;Acc:MGI:1918000]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa25779 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa25779
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
ENSDART00000022621 Essential Splice Site 120 193 3 5
ENSDART00000126874 Essential Splice Site 286 359 8 10
Genomic Location (Zv9):
Chromosome 2 (position 13034113)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 13559338
GRCz11 2 13242124
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCTCTCAACCGGAGCAAGTGGCAAAAATTGTGGTGAAAGATGCGGTGG[T/A]GAGTACATGGTGGCTCTTATGTGACAAGTTTCAAGACAGAAAAACTTTCT
Long Flanking Sequence:
AAAGAAAGGCGGATGGGTCGCATCATGTTTGTGTCATCACAGGCAGGGCAGATCGGCCTCTTTGGCTACACGGCCTACTCACCCTCCAAATTTGCCTTGCGTGGTCTGGCTGAGGCCTTGCAGATGGAAGTGAGTTTGTATGCAGGACACTTGCTCTGTATCTTCTGTATGATGCAGCAGTCTATTGATACAACTTTGATTTTTGATTTTTCTTAGATGAAACCCTATAATATCTATGTTACTGTGGCATATCCTCCAGACACAGATACACCAGGTTTTGCAGAAGAGAATAAAACTAAAGTGAGCAATTTATTGTTTTGTCTTGAAAACAGTTAATATCTGACCTCTAATATTAACATTAATATGAATAGACCATTTAAAAGTAAATTCCTGTGTATATCTTTTTCTTGGGCAGCCTCTGGAAACCAAGTTAATTTCAGAGACATCTGGTGTCTCTCAACCGGAGCAAGTGGCAAAAATTGTGGTGAAAGATGCGGTGG[T/A]GAGTACATGGTGGCTCTTATGTGACAAGTTTCAAGACAGAAAAACTTTCTGCTTCTTTGATGTACATTTATTTATTTAGCACACGCTTTTATTCAAAATTACTTAGAAAAATCACTAGAAAAGCAATAATATGTACATGACTCATTCCAGAATTGTGGGTACTTTTTAAGCATTTTTCATGAATTTTCTTTCAACTGGAATGATAATGCAACAAGTGTATAATTTACAGATAAACTGAATTCATTATTAAAGTAAAGCAGAATGCTTAAACATATTGGAAACATTTGGTTCTGTTACTGATTGTTGTTTAACAAAATGCTAACCTGAAACCAGATATAACATGACATGTCTGAAACAGAATTTTATACAGTGGTTGAGTGTAACAAGCTGCAATTTAAGAAAACACATGCAATTACTAAAGCCAAATTAATAAACATTCTTTATCAGTTTGACGGCACACACGTTGCAAATTCTCAAAACACAAACAACGGAAGAAATGC
Associated Phenotype:
Not determined