Busch Lab

ZMP

LOC564392

Ensembl ID:
ENSDARG00000010130
Human Orthologue:
SMPDL3B
Human Description:
sphingomyelin phosphodiesterase, acid-like 3B [Source:HGNC Symbol;Acc:21416]
Mouse Orthologue:
Smpdl3b
Mouse Description:
sphingomyelin phosphodiesterase, acid-like 3B Gene [Source:MGI Symbol;Acc:MGI:1916022]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa28572 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa28572
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002751 Nonsense 232 457 5 8
Genomic Location (Zv9):
Chromosome 16 (position 5660211)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 4886194
GRCz11 16 4715483
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTCAGCTGGGCTGATAAAGTGCTTCAGGATGCGGCCAAAAATAACGAG[A/T]AGGTAATTATATGCAAATATTTCCCAAATGATGTTTGACAGACTCAGGAA
Long Flanking Sequence:
ACTTAAATGGTTTGTTGGAATCGGTTTCCTCAAATGGTTTAGTTAACGCAACTTTTGGGGTTTGTGTGTGGAAGTGTTGCATTTCTCTGGTTTTAATTCCACAGCTTTCAGCCGTAATTGCACACTAATCTGACATTTTTGTTCGTAATTTTCGCTTGTTAAAAAATAAATTCGACCTCATGTTGTGTGAATCATATGGACACACTGCCTCCCATTCACTGCATAAAACGTGCTGGATAAGCTGGCGGTTCATTCCACTCTGGCGACCCATAAAGGGACTAAGCCCAAAAGAAAATGAATGAATGAACATTATTAATTTCTGCTCTTTCTCAGGTGGATATTACACTGAAAAGCTGCTGAATCAGACTGGATTGAGAGTCATTGTCCTCAACACAAACCTTTATTATGATCAGAACAAACTGACAGAGAAAGTCAAAGATCCTGCAGATCAGTTCAGCTGGGCTGATAAAGTGCTTCAGGATGCGGCCAAAAATAACGAG[A/T]AGGTAATTATATGCAAATATTTCCCAAATGATGTTTGACAGACTCAGGAAATTTTCACAGTAATTCCTATAATATTTTTTCTTCCGGAGAAAGTCTTATTTGTTTTATTTCGGCTAGAATAAAAGCAGTTTTAAATTTTTTAAACACCATTTTAAGGTTAATATTATTAGCCCCTTTAAGCTAGATTTGTTTTTGATTCTCTACAGAACAAACCATCATTATATAATAACCATAACTTGTTTAATTAACCTAGTTAAGCCTTTAAATGTCACTTTAAGCTGAATACTAATGTCTTGAAGAATATCTATTCAAACATTATGCACTGTCATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATGAGTTATTAAAACTATTATGTTTAGAAATATGTTGAAAACTTTAACTTATTTCAGTTAAAGGGAAAAGGGCAAATAATACTGATTGAACTGTAAATATATAGTAAATATGCACAGTACAGTATTTACATCCTATTT
Associated Phenotype:
Not determined