ZMP
smpd4
Ensembl ID:
ZFIN ID:
Description:
Sphingomyelin phosphodiesterase 4 [Source:UniProtKB/Swiss-Prot;Acc:Q6PFJ7]
Human Orthologue:
SMPD4
Human Description:
sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) [Source:HGNC Symbol
Mouse Orthologue:
Smpd4
Mouse Description:
sphingomyelin phosphodiesterase 4 Gene [Source:MGI Symbol;Acc:MGI:1924876]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43618 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa43619 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa43618
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 |
|---|---|---|---|---|---|
| ENSDART00000017937 | Nonsense | 105 | 791 | 5 | 20 |
| ENSDART00000130519 | Nonsense | 105 | 791 | 5 | 19 |
| ENSDART00000137143 | None | None | 87 | None | 4 |
| ENSDART00000147567 | Nonsense | 15 | 454 | 1 | 12 |
The following transcripts of ENSDARG00000020730 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 17725656)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 18873908 |
| GRCz11 | 21 | 18910544 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTCCTATGATGAAACTGGTATACAAACTACAAGCAGAGGAATACAAGTA[T/A]GAGTTTCCAATCAGTTATCTGCCGGTGAGTGTGCTCTCCAGTGAACTCAG
Long Flanking Sequence:
ATTATCTTCAAGATATGAGACATGTATCATGCTATACAATTTTTGTCCTATTGCTCAGCCCTTGTGTATGTTTATGCATGCATATATTCAAACACACACACTCTCTAATTAGTCATGGATGCAAATGCAACATAATTATTATAAAGAATAATAATAACCTTTCTACCAGTACTTCTTGAGCCCCAAACCCCCATTGTATTGATTTCTGAAGGAGCATGTGACATTGAAATTTGGAGTACTGGCTGAAAAAATATTTTTTTACAGCCAAAAATAAATAAATGCAAATGTATTAAAATAAATTTTTTTTATTTATAATAATATTTTATATATTTTTACTGACTTTACGGCATTTCTGAATAAATAAATAAATGTAACATTGTTAAGGTTCAATATGGATATAAGACTTTTTTTGCTATGTTATGATTAAATGTGAAATGTTTATTCAACAGTGGTCCTATGATGAAACTGGTATACAAACTACAAGCAGAGGAATACAAGTA[T/A]GAGTTTCCAATCAGTTATCTGCCGGTGAGTGTGCTCTCCAGTGAACTCAGCTAAGGGTTTTATGTGCTGAGCTGTTATTTTAAATTTGTTAAACCTGTTAAGAGATGTTCATTTAGGTTGAGGTTCATTATCACTGATTAATTTCAAAGTAGTGTGTTTTTCACAGTGTTATTAACCATGTCTACATTTATGCGTGTTCTGTTTGCACAGGGTCCAATAAAGTCGTCCATTCATGCTGGGGTTTTGCCAGATTGCCCTCTGTTTCACAATAAAATTCAGTTCCCCATGTCAGGCCTGCTATTTCTCAGTACGTCTTGGCTTTTTTTCCACACTCACTTTCTGTAAAACAAAATGTTTTGCATCTTATTGTAACTATTACAAGGTTGTTTCATCACTCTTTATCTTTCTCTCACATAAATATCTGTTCTTAATCTTTTGCAGATCCTTTTGAATATTATATGTTCAACTTTGCCTCCAGTCTCATTGCACCAAAGGTACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43619
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017937 | Essential Splice Site | 282 | 791 | 10 | 20 |
| ENSDART00000130519 | Essential Splice Site | 282 | 791 | 10 | 19 |
| ENSDART00000137143 | None | None | 87 | None | 4 |
| ENSDART00000147567 | Essential Splice Site | 192 | 454 | 6 | 12 |
The following transcripts of ENSDARG00000020730 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 17728212)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 18876464 |
| GRCz11 | 21 | 18913100 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCACTATTCTCTGGAGATGTACCAGAAGTTGCAGTCTCCTCAGGTGAAG[G/A]TAAGATTGAGAAACTGTTCAGGTCAGAAACAGAAACATGCCAGTAGAACT
Long Flanking Sequence:
ATAATGTTGGGGCAAACCAGCCATTGACACCCATATTATGGCACTATAAATGTCAATAAATATTTTTTCCCCCAGCATTTTTTCCTTTGGTGTTCAACGGAAGAAAGAAAAGCAGCTGGAGAATGTCCAAATGATGACAGAATTTTCATGTTTGGGTGAACTATCCTTTTAATATAGAATTGAAACAGGCCTTTATCTAAACTAGTGAATGCTTGCTTTTGCAGGTCTACCAATGTGCCTTATGTTGGATATGGTGGTCACAGCACCAGTCTGTTAAAGCGTCATATTACCCATCAGTCTTCAGTCAACGCTGACCCTGCCGCTCAAGAGATCTGGAGGTCCGAAACACTTCTTCAGGTAGGAACAAGTTAACTGTTCTTAATTCTCATTTCCCTTGTTTTGAGCTAAACATGGTTGTGTGTTTGTAGGTATTTGTGGAAATGTGGCTCCATCACTATTCTCTGGAGATGTACCAGAAGTTGCAGTCTCCTCAGGTGAAG[G/A]TAAGATTGAGAAACTGTTCAGGTCAGAAACAGAAACATGCCAGTAGAACTAACACACTCCCTTCCTCCACTGCGCACGGCTGTCTGTCTGGCTGAACAGCACCACCCTACAGACCCTCCTTCACCCCTGCACTGCATAGGGGCTGCTGCACGACACCCACCCTAAATCATGCACTTCTTCTCCCTCTGTCAATGACACACATACACTCTATTGACAGATAGGCCCTTTATCATTCATAGCTGGAGTGTTGATATTAGCATTTTTACAAGTTTTTTTTTTTTTGAGTGATTTATTTTTTTTTATTGTTGTTTTTTGTTATTACTATTGATCTAATGTCAATATGGTTAACAAATTTGGGATAAAAACTAAAAAAGCTAATTTTTTTATTATCATTATTATTATTGTTGTTATGTTTTTATTTTTTGTTATGATAAGATAAACCGATGCTCCACATTTCCACAAATCTGCATCTAGTTCTGTTACACTGTACGTTTTGCCTA
Associated Phenotype:
Not determined