ZMP
smpd3
Ensembl ID:
ZFIN ID:
Description:
sphingomyelin phosphodiesterase 3, neutral [Source:RefSeq peptide;Acc:NP_001116222]
Human Orthologue:
SMPD3
Human Description:
sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) [Source:HGNC Symbo
Mouse Orthologue:
Smpd3
Mouse Description:
sphingomyelin phosphodiesterase 3, neutral Gene [Source:MGI Symbol;Acc:MGI:1927578]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa38020 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa3313 | Nonsense | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa38020
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103860 | Nonsense | 271 | 684 | 1 | 7 |
| ENSDART00000140183 | None | None | 110 | None | 3 |
Genomic Location (Zv9):
Chromosome 25 (position 12846466)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 13007993 |
| GRCz11 | 25 | 13104498 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAGAGCATGCTCCTGATTGTGCCATGCACCAGTCTTCAGATTCAGAGTG[T/A]CCAGTACATAGCAACATAATGCAGAACTCAGAAGATTGTCCACTCCATCC
Long Flanking Sequence:
CATGGTGTGGAGCAGGGCTCTGCGGCTGGAACTGGGGCAGCACTTGCTGAGTGGCGTCCACAAGGACGCAGCTTTTGCTTTGGCAGTGCCAACGTTTGCTTGCTGCCAGACTCACTTGCACGCTTTAACAACCTAGCGGACACTCAACGCCGGGCTAGGGAAGTGGGCAAGCGAATTCGGAACGGTGCCAGCAGACCCCAAATCAAGATATACATCGACTCGCCCACAAATACTTCAATCAGTGCTGTATCCTTCTGCAGCTTGTCTACCCAGGGCTTCCGCCGGACCTCTTCTTTGGACCATCGTCCCGATCCTGTAGTCACCACTGAAAATGAGACTGAGGCCTTAACCGAGTGTCCCATTCACACCTCAGGAGGTACAAGTTCAGATTGCCCCATCCACAGCACTGGAGTCCAGAATTCCTCAGAGTGCCCTCTCCATCCTAATGAAGAAGAGCATGCTCCTGATTGTGCCATGCACCAGTCTTCAGATTCAGAGTG[T/A]CCAGTACATAGCAACATAATGCAGAACTCAGAAGATTGTCCACTCCATCCATCTGGAGTGCAAATCAGCATCACCTCTCCTGATTCTGAGCCGGCTGAGGCTGAAAAAGGAAACCATCAAACCGGGGACGGGGACACAGGTAGTCTAGACAGCCGCACAGCCTCGCGAGAATCCCTGGTTCGCTTCCATGCAGCCGATGGAGGGATATCTCCCAACAACACCCTTTCACAACACCGCACCTCAGTCTTCAAAAGACCAATAGGACGCAAACGTCGTCATGGAGACGATGGCTTTGACCACGAGATATCTGCCTTCTTCCCAGCCAACCTTGACTTCCTCTGTCTTCAGGAAGTCTTTGACAGGCGGGCCGCCGATAGGCTCAGGAGGCAGTTGCACCGCTATTTTCCCTTTGTACTGAGCGATGTAGGACGCTACGGCTGGAAAGGCTGTTGCTCCAGATTCAAGTTCTTAAACAGCGGTCTCCTGTTGGCCAGTCGCTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa3313
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103860 | Nonsense | 608 | 684 | 6 | 7 |
| ENSDART00000140183 | Nonsense | 34 | 110 | 2 | 3 |
| ENSDART00000103860 | Nonsense | 608 | 684 | 6 | 7 |
| ENSDART00000140183 | Nonsense | 34 | 110 | 2 | 3 |
Genomic Location (Zv9):
Chromosome 25 (position 12880950)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 12973509 |
| GRCz11 | 25 | 13070014 |
KASP Assay ID:
554-3277.1 (used for ordering genotyping assays)
KASP Sequence:
TTGCATTACTCTGACAGGGTGATGGAGAATGAAGAGGGCAGAAAAGAGTA[T/G]TTGGTGTTCCCCACAAGCAAGAACCATTGTCCCAGTCAGAAGGGGCGCAA
Long Flanking Sequence:
TACACATTTTCCCCATGCTCAGGTGGGTTCCCCCATCCACAACCCCCCCCCCACCCCCCATCCCCACCCCTCCCCCCAGGTTTCCTCCCAACATCCAAAAACATGCAACTGATGTTAATTGTGTCATCCAAATCAGCACCATAGACATACTAGTAAATAGTTATCTCTTAAGAGCATTTACTATCTGTTCATTAGCTTCTAGAACAGGGGAATTATCGAGATCTACCTGAGCTCAAACTCCCCTCTAGCCTTGCAAATGGGAGGGAGCCCCGGGCTCGAGGATCTGATGAGCTCAGGGCTCTCTCCTGGGACAGCATGCCAAACAAGCTTTATAATCTATCATCAGCTAAGTGTGAACTCTTGAAATGCTATATAGATATATTATAAACATATGTTTTATCCTATACAATCATGTGATCATCAGTCAACTGTGGATTCATGGCAGTCACATTGCATTACTCTGACAGGGTGATGGAGAATGAAGAGGGCAGAAAAGAGTA[T/G]TTGGTGTTCCCCACAAGCAAGAACCATTGTCCCAGTCAGAAGGGGCGCAAAATACCCCTGAAGGGAAACGGCAGGAGAATCGATTACATCCTTTATAAAGAGGAAGGCCTTCACCAGGACTGGAAAGTGGTGAGTTCTGATTAATAAATCGACTTCCCTTTTATGAAGAACATTATGCAAAACATGACTAAACACATACTGTGAGTAAACATCACAGCGCACACAGAAACATGGGACTACCTGTGGGAAGTAAATACACCAGATGACTTCTGTTTTGCACATTCATGACTGTGTTTGGACATGTTTCTATTTGTAGTGTATTGAATATATTGTGTGTGTTTTACTTAATGCAAGAGTCAACTGGACACATATTGTGGATTAAACATTTTGTAGAACACTTGGGTATCCATTATGAATAATAAAAATATCCTAATAATATGAGGAGTAAACACAAGGGCAATGAATCAAAATTTGATCCAAAATGCAAAATAAGTTTTTGA
Associated Phenotype:
Not determined