ZMP
smek1
Ensembl ID:
ZFIN ID:
Description:
Serine/threonine-protein phosphatase 4 regulatory subunit 3 [Source:UniProtKB/Swiss-Prot;Acc:Q5SP90]
Human Orthologue:
SMEK1
Human Description:
SMEK homolog 1, suppressor of mek1 (Dictyostelium) [Source:HGNC Symbol;Acc:20219]
Mouse Orthologue:
Smek1
Mouse Description:
SMEK homolog 1, suppressor of mek1 (Dictyostelium) Gene [Source:MGI Symbol;Acc:MGI:1915984]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa6639 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| hu7878 | Essential Splice Site | Available for shipment | Available now |
| sa32303 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa6639
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000061843 | Essential Splice Site | 48 | 818 | 1 | 15 |
The following transcripts of ENSDARG00000042187 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 20 (position 33525634)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 33583874 |
| GRCz11 | 20 | 33486753 |
KASP Assay ID:
554-5363.1 (used for ordering genotyping assays)
KASP Sequence:
GTGGAGAGGCTCAAAGGCATGTCTCTCCTGGTGCGCGCCGAAAGCGATGG[T/A]AGGTTTCAAAACACTGGAAGATGATGAACAGGTTTGCTTTTCATTGACTG
Long Flanking Sequence:
AGGGGGCACGAAGAAGAGCAAACACTTTCTTCATCCGCGCTCTGGCTGCATGCTTTTAAACTCATCTCACTCTTATTTTTCGTGCTTCTGTTTATAGAGAGTTTAAAATACCGGGTATGTTGTGGGGAGTCTCGGCTGCACACAGCAGCTAGCTGACCATCACTGGACTGGTCAGAATAATTGTGTGGACAGCGCAAGTTTACTGCGAGAGACTCCACAACAACACACTGCTTCAGCTCCTCGCCCGCGAACGCCGTACATTTCAGTTTGAAGTTGACATCAGATTCTGTTGCATCTCGAGGACTTTGAGATTTATTGAATCAAGGGCAAAAGCCTATCCGAGAGTTACTTGCAAGGATGACTGACACTCGTAGACGAGTAAAAGTGTACACTCTGAATGAGGACCGCCAGTGGGACGATCGGGGAACGGGACATGTGTCATCCGCCTACGTGGAGAGGCTCAAAGGCATGTCTCTCCTGGTGCGCGCCGAAAGCGATGG[T/A]AGGTTTCAAAACACTGGAAGATGATGAACAGGTTTGCTTTTCATTGACTGATCAAGCACGTTAACATGAGGCCGTTCTTTATGACAGGGTCACTGCTGCTGGAGTCCAAAATCAATCCTAACACCGCCTATCAAAAACAGCAGGTGCGTTGCACTCTTTTGTGAACTCACAATGCATAGTTAGCCTGAGTGCTTCTAAATGTTTTGGTGCAACACATATTTCATAAAGACAAGACACAACAGGTGAATATGGTAAGAATTTAAACTAATAAATTAGTTTGCATGACTGCATTCCTTTTTATATCGTATTCGAAACAAACTTATATATTTTAATCTACATCAGTGATGATTAAATCAGCACTGCATACTACTTTGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATATATATATATATAACATTTACATTTTTAGCTGCTTAGTGTAAATCTAAAGTTACTTTTGTCTTGCATTAAAATCATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
hu7878
Status:
Available for shipment
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:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000061843 | Essential Splice Site | 488 | 818 | 9 | 15 |
The following transcripts of ENSDARG00000042187 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 20 (position 33514626)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 33572866 |
| GRCz11 | 20 | 33475745 |
KASP Assay ID:
554-2384.1 (used for ordering genotyping assays)
KASP Sequence:
CTCTCCGCTCCACTTCTTGCCAACACCACTGAAGAAAAACCCAGCAAAGG[T/C]AATAACTTTTACTATCTTTTTGAGCATGTGTGTGTATGTGTACGCTTGTA
Long Flanking Sequence:
GGGAAAAAGACAAACAATGGAGACGATGAAAAAGGATTTGGAGAGTCAGTTTACAACTGTTTGATGTTATTCATTTGTGATCAAATTGAGAAAAGTGCTTCTCTGCCAGGTTTAAAGTGCTTATTCTATGGAATATTGTGCTTTGTTCCCTCTTTATTATTGCTGAATTTAAAGGGATCTGCTTTTACCAAGTTGTTTTATTTGTAATATTTTTAATCAGATAATTTAGCAATTTTAATTTAACATTACATTTTAAATTTAATACATTTCTATATCTAATTAATTGTTCAGATGTTCTGAACAAAGTTGTTTCTTGTCATATCACCCAGCTTTTTTGTTCTTTGTCAGATTGTAGAGAAACATTCTCTTTTTATTGAATTGTCTGGTTCCTTGCAGAAAACTGAGAAGACCGAGTTTTTGAGCTTCTTCTATAAGCATTGCATGCATGTGCTCTCCGCTCCACTTCTTGCCAACACCACTGAAGAAAAACCCAGCAAAGG[T/C]AATAACTTTTACTATCTTTTTGAGCATGTGTGTGTATGTGTACGCTTGTAGGATGCATGCAGGGTGAAAGTTTTGGCAGCTTTGTTTTGAAGCGTTCGTGTGACTATTTGCATACATATTAAAAAATGTAAGCTTTACAGACTTTTCACTGTGTTTGTTTGTCTTGTCAGATGATTTCCAGACATGTCAGCTGCTGGCTCTGATCGTAGAGCTGCTCACTTTCTGCGTGGAGCATCACACGTATCACATAAAGAACTACATCATCAACAAAGACATCCTGCGCAGAGTGCTGGTGCTCACTGCATCACAACATGCTTTCCTAGCCTTATGTGAGTAAATTCTCACTGCACAAATGATACCAATTTTATAATGAGCTAAAGCTTTATGATATCACATTTGAAATGAAAATATTCTGCAGAAAATATTGTATTTCCACTTGCTGTTGTCGGTTGCGAAGATGAGCTTTTGCTTTTTTTGCTTTGCTTAACACTATAGCAGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32303
Status:
Available for shipment
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:
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000061843 | Nonsense | 678 | 818 | 13 | 15 |
The following transcripts of ENSDARG00000042187 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 20 (position 33510031)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 33568271 |
| GRCz11 | 20 | 33471150 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACTGGAAGACGAGGAGGAGATGTGGTTTAATACGGATGAGGAAGACTTA[G/T]AGGATGGTGAAGCAGTTGTGCCTCCGTCGGACAAGATGAAGAATGACGAG
Long Flanking Sequence:
TTTTTTTCTTTCTTTTATTATTCAATATTTCTCCACGTACCTCTAGATGAAAGTACCACAGTTTAAGAACCACTGCTTTAGTTTTAATAGGGCTATAAAATCAGTATCTTGTTTTATAGAGGAAAAAATATTTTCATACAAAACATTTTTTTTAAGTGTAAAATGTATTCTTTATGAAATACAAACTTAAAATAATTTGATAAAATAAAAAGTAAACTGTATAGGAAGTTTTCCCCCTCTGTTTTAAGAACAACTGTGAAACTATTGAAGTCAATATTTAAAAGGAGATTGCATCTTTGTCACCTTTTTTCTTTTTTGGAATTTGAGCTGCTATGATTTTATTGGTATCAAATGGTGTCATTCCATTATGTTTTTTTTCCCCTGTCGTCTTGATTATTTTCAGTATGCGGTCGATTCTGAGAAATCACCGTTTTCGCCGGGATGCACGGACACTGGAAGACGAGGAGGAGATGTGGTTTAATACGGATGAGGAAGACTTA[G/T]AGGATGGTGAAGCAGTTGTGCCTCCGTCGGACAAGATGAAGAATGACGAGGACCTTATGGATCCCATCAGCAAATTTATGGAGAGGAAAAAATGTATGTTACTGCTACTTACAGGATGGTGTGATGATCAGCTAGTATTGTCCTCCACTTGATTGCAAGATAATATTATGTAATGTGTGTTGTTTGTTTGATTGATAACTTTTTTGTACTTTCTCCTTCACTTTCCACAAGTGAAAGATTCAGAAGAGAAGGAGGTGTTGACAGGGAAAGCAAGTCTCTCAGGACGGCAAAGTCCCAGTTTTAAACTGTCCTTCTCCAGCTCGCCAAAGGCAAGCCTGTCCTCTCCGCCGACTGCATCCCTTCATCCCGGTTCACCTGGTTCTCCTAGCTCTCCCGGGACAGGGGCCCGGAGCTCTCCCCCTTCGGCAGCTGTCACCACTAAGGTATTTAACAAGAATTGAAAGTGCTTTAAAATTCTAGTTGTTTCCTTTTTTACTATT
Associated Phenotype:
Not determined