ZMP
zgc:100974
Ensembl ID:
ZFIN ID:
Description:
splicing factor, arginine/serine-rich 12 [Source:RefSeq peptide;Acc:NP_001003613]
Human Orthologue:
SREK1
Human Description:
splicing regulatory glutamine/lysine-rich protein 1 [Source:HGNC Symbol;Acc:17882]
Mouse Orthologue:
Srek1
Mouse Description:
splicing regulatory glutamine/lysine-rich protein 1 Gene [Source:MGI Symbol;Acc:MGI:2145245]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa40563 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa6064 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa20535 | Nonsense | Available for shipment | Available now |
| sa13077 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa40563
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000016995 | Essential Splice Site | 238 | 512 | 6 | 13 |
| ENSDART00000121459 | Essential Splice Site | 238 | 512 | 6 | 13 |
| ENSDART00000134937 | Essential Splice Site | 241 | 515 | 6 | 12 |
Genomic Location (Zv9):
Chromosome 5 (position 55764083)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 54548753 |
| GRCz11 | 5 | 55171589 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTGCATCCTATTTTTATAAGTGATTGATCAGCCTGACTTCATCTTATTC[A/T]GGATTAACCACTCCAATAATGCCATAGTGAAGCCTCCAGAGCTTACACCC
Long Flanking Sequence:
TCTAGGTCTTATCCGTTTAGCTGATCTCTGGGTTTGCTAATCTCTTGAAACAATTAGCAAAGATTTATTTATCATTTAAAAAAAAAAAAGAGAAAAAAATTAAATGTATTACGCTACACTAAAAGTGCTTCAGCCAGACCCAGAGACATCCTGAATGGATTCATAAATGGTAAAACACAACTGTTTAACTTTAGGTGACTTGTAAACTGTGCGTATTGAAAAAAATTAATTAATTGTTTCTGATTGGCCACTGTTATTTAGAGTTTAGCACCAATCTGAATTAAATACTTTAGCTAACTAAACAAAACTCTTAAAGAAAGTCTGAGTAAGTTTGCTAGAACTAAAAATCTGTGTAACGTAGGCCTTCTAGAATCAAGATTGGACATCCCTTCCTGGTCCCTGCTTTTAATAACAAATAAAAAAAACAAATATTTTTTTTTGAAAAGTTTTAGTGCATCCTATTTTTATAAGTGATTGATCAGCCTGACTTCATCTTATTC[A/T]GGATTAACCACTCCAATAATGCCATAGTGAAGCCTCCAGAGCTTACACCCCAAGCTGCAGCCAAAGAGCTAGAGGACGTCATGAAGAAAGTCAGAGAGGCTCAGTCAACCATTGCTGCTGCTATCGAGCCAGGTTGGTCTTCTTAAAACCCTGACTCTCTCATAGTGATGCTTTCATGTTTATCTTTTTTATTTTATGGCAATTTTATTTGTTTCTTGCAGAAAATGAACTCCCTTCATCCAGTAGATCCAGGCATTCCAGAAGGTCCAGATCTCACTCTTGTTCTCCATCTAACTCAAGAAGAAAGCGATCCAGGTCTAGACACAGGTGATTTACACGCAACCTTAGTAGTTTGTGAAGCCAATAGCTACTCACTATATGAAGCAGTTAAAATACTATGAAGCTACTCATTTATTGAGCTACACAAGTTATGCTGACTACATTAACAAAAAATAATCTTACTGACCATGTAGATATATTAGGGGTATTAGTATTATATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6064
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000016995 | Essential Splice Site | 317 | 512 | 7 | 13 |
| ENSDART00000121459 | Essential Splice Site | 317 | 512 | 7 | 13 |
| ENSDART00000134937 | Essential Splice Site | 320 | 515 | 7 | 12 |
Genomic Location (Zv9):
Chromosome 5 (position 55763754)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 54548424 |
| GRCz11 | 5 | 55171260 |
KASP Assay ID:
554-3796.1 (used for ordering genotyping assays)
KASP Sequence:
CTTGTTCTCCATCTAACTCAAGAAGAAAGCGATCCAGGTCTAGACACAGG[T/C]GATTTACACGCAACCTTAGTAGTTTGTGAAGCYAATAGCTACTCACTATA
Long Flanking Sequence:
GTTTGCTAGAACTAAAAATCTGTGTAACGTAGGCCTTCTAGAATCAAGATTGGACATCCCTTCCTGGTCCCTGCTTTTAATAACAAATAAAAAAAACAAATATTTTTTTTTGAAAAGTTTTAGTGCATCCTATTTTTATAAGTGATTGATCAGCCTGACTTCATCTTATTCAGGATTAACCACTCCAATAATGCCATAGTGAAGCCTCCAGAGCTTACACCCCAAGCTGCAGCCAAAGAGCTAGAGGACGTCATGAAGAAAGTCAGAGAGGCTCAGTCAACCATTGCTGCTGCTATCGAGCCAGGTTGGTCTTCTTAAAACCCTGACTCTCTCATAGTGATGCTTTCATGTTTATCTTTTTTATTTTATGGCAATTTTATTTGTTTCTTGCAGAAAATGAACTCCCTTCATCCAGTAGATCCAGGCATTCCAGAAGGTCCAGATCTCACTCTTGTTCTCCATCTAACTCAAGAAGAAAGCGATCCAGGTCTAGACACAGG[T/C]GATTTACACGCAACCTTAGTAGTTTGTGAAGCCAATAGCTACTCACTATATGAAGCAGTTAAAATACTATGAAGCTACTCATTTATTGAGCTACACAAGTTATGCTGACTACATTAACAAAAAATAATCTTACTGACCATGTAGATATATTAGGGGTATTAGTATTATATTTACATGGTAAAAGTGCAAAGATTTATTATCCCTTTGTAATTGTATAACTGTTCAAATCAAATCTAATCCATTTAAAAGGAACTTTAATGGACTAAAGAAAGATTTAAACAAATAATCAGTAATGTACCATGTAGTGCTCTTTGAAAATTTATGGTGACTAATCATATATAAAATAAATGTTTTTATGTACATGTATGTAGTAGTGTATATGTAGATGTACACATAAACATATTTACATATATATCCATGTTTATATATTATTTATTTTAAATATTTTATATATAAACACACATTTTCTTTGCATGTATATACAGTTGCAATCAGAATGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20535
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000016995 | Nonsense | 387 | 512 | 9 | 13 |
| ENSDART00000121459 | Nonsense | 387 | 512 | 9 | 13 |
| ENSDART00000134937 | Nonsense | 390 | 515 | 9 | 12 |
Genomic Location (Zv9):
Chromosome 5 (position 55760641)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 54545311 |
| GRCz11 | 5 | 55168147 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGAAAAGAGGCTGCGGGACAAAACAGGAAGATCGCCTCCAAAATGCTA[T/A]GTTGGTTCCAGACGGTCCCGCAGTACAAGCAGGTTAGAAGAAAATGTCCT
Long Flanking Sequence:
ATTATTATTATTATTAAAATATGTAAATGCAACACTGTGCCTATACATTTGTAAATTAAATCAATAATTAAAAATAAGGAAACCTGTGCATTTATTAATGCAATCAATGCAATGTGCATGCTTAAAATCTGTGTAATCCATAAATATGTTTCACTGAAGCAGTGTTAAATAACTTGTTGATATTACATTATTGTTTTTATAGAGGGCATCCATCAAAGAGATCACGGCAGAGATTTAATGACTCATGTGGGTCCCATAGGAGACATTCTCGTTCCAGAGAAAGGAGACGCAGCCAGAGTCGATCTCATTCCAGGTTAAACGGCACCTCCACACTGGCCTCTTTCCACTTACAGTCTGTTCCCGCAAAGTACATTTATGACCAGTGTTGTCTCCCAACACAGGGGCCGAAGGAAGGACAAAGACAGTAAAGGAAGGAAGGACGATGACTGGGATGAAAAGAGGCTGCGGGACAAAACAGGAAGATCGCCTCCAAAATGCTA[T/A]GTTGGTTCCAGACGGTCCCGCAGTACAAGCAGGTTAGAAGAAAATGTCCTTTTTTGCTAGAGCCCCATTTAGGATCGGGGACTGGCTGCATTATAGCCCTTAAGTTTTTTGACATATGGGTAAGGGATATTTTACTAAGGTTTCATTGTAGTATTTGACAACCTTGTACAATGAGTATTAGACAGTAAAGAGAACATAATGAAACTCAAAGTCATTATTTTCTTAAATCACAGTTATATCAATATTTTTGATACAAACATCACAGAAAACAAATAATAAGCAATCAATAAAAAAAAAAACATTTTGACAGAGAATGAAAGGCTATTCTTTCAGATGAATGCACAAAAAGATAAAAAAAACTCAATTGATATATATATATATATATATATATATATATATATATATATATATATACACACATACACACACACACACAGTCCACCAGTAAGAGCAGAGTGTAAAGGTTTAATTAGCAGAGTAATAGCTCAGTTTTGCTTAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13077
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000016995 | Nonsense | 391 | 512 | 9 | 13 |
| ENSDART00000121459 | Nonsense | 391 | 512 | 9 | 13 |
| ENSDART00000134937 | Nonsense | 394 | 515 | 9 | 12 |
Genomic Location (Zv9):
Chromosome 5 (position 55760631)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 54545301 |
| GRCz11 | 5 | 55168137 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGCTGCGGGAMAAAACAGGAAGATCGCCTCCAAAATGCTATGTTGGTTCC[A/T]GACKRTCCCGCAGTACAAGCAGGTTAGAAGAAAATGTCCTTTTTTGCTAG
Long Flanking Sequence:
TTATTAAAATATGTAAATGCAACACTGTGCCTATACATTTGTAAATTAAATCAATAATTAAAAATAAGGAAACCTGTGCATTTATTAATGCAATCAATGCAATGTGCATGCTTAAAATCTGTGTAATCCATAAATATGTTTCACTGAAGCAGTGTTAAATAACTTGTTGATATTACATTATTGTTTTTATAGAGGGCATCCATCAAAGAGATCACGGCAGAGATTTAATGACTCATGTGGGTCCCATAGGAGACATTCTCGTTCCAGAGAAAGGAGACGCAGCCAGAGTCGATCTCATTCCAGGTTAAACGGCACCTCCACACTGGCCTCTTTCCACTTACAGTCTGTTCCCGCAAAGTACATTTATGACCAGTGTTGTCTCCCAACACAGGGGCCGAAGGAAGGACAAAGACAGTAAAGGAAGGAAGGACGATGACTGGGATGAAAAGAGGCTGCGGGACAAAACAGGAAGATCGCCTCCAAAATGCTATGTTGGTTCC[A/T]GACGGTCCCGCAGTACAAGCAGGTTAGAAGAAAATGTCCTTTTTTGCTAGAGCCCCATTTAGGATCGGGGACTGGCTGCATTATAGCCCTTAAGTTTTTTGACATATGGGTAAGGGATATTTTACTAAGGTTTCATTGTAGTATTTGACAACCTTGTACAATGAGTATTAGACAGTAAAGAGAACATAATGAAACTCAAAGTCATTATTTTCTTAAATCACAGTTATATCAATATTTTTGATACAAACATCACAGAAAACAAATAATAAGCAATCAATAAAAAAAAAAACATTTTGACAGAGAATGAAAGGCTATTCTTTCAGATGAATGCACAAAAAGATAAAAAAAACTCAATTGATATATATATATATATATATATATATATATATATATATATATATATACACACATACACACACACACACAGTCCACCAGTAAGAGCAGAGTGTAAAGGTTTAATTAGCAGAGTAATAGCTCAGTTTTGCTTAAAATATTGCAAT
Associated Phenotype:
Not determined