ZMP
srsf1b
Ensembl ID:
ZFIN ID:
Description:
Serine/arginine-rich splicing factor 1B [Source:UniProtKB/Swiss-Prot;Acc:Q6NYA0]
Human Orthologue:
SRSF1
Human Description:
serine/arginine-rich splicing factor 1 [Source:HGNC Symbol;Acc:10780]
Mouse Orthologue:
Srsf1
Mouse Description:
serine/arginine-rich splicing factor 1 Gene [Source:MGI Symbol;Acc:MGI:98283]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa12863 | Nonsense | Available for shipment | Available now |
| sa12123 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12863
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000110646 | Nonsense | 84 | 258 | 2 | 6 |
| ENSDART00000140865 | Nonsense | 21 | 125 | 1 | 2 |
| ENSDART00000143566 | Nonsense | 21 | 182 | 1 | 3 |
The following transcripts of ENSDARG00000017843 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 38410910)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 39530989 |
| GRCz11 | 21 | 39576047 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGATGCTGTATATGGAYGTGATGGCTATGACTATGACGGCTATCRTCTT[C/T]GAGTGGAGTTCCCAAGGAGTGGCAGGGGAGGTGGAAGAGGTGGAGGTGGA
Long Flanking Sequence:
GTAAATTGTAAATGTGAGAATCATTTTCAATTTCTAAATCATTCTGTGTATTTGGAGTTAGAATAAAAGAATTCTCACAATCTTAAATGTATAGGCTTTCACAATCCTGACTATTTGCTTTAATCGATTTTTACTAATGTCTTTCTTTGTTGGATCTTGCCACTATGTGTTTGAAATATATATATATATATACATACAATTTATACAAAATAGATACAATTTAGTGGTTTCTGAAATTGTTTTCTTGATTTTTCAGACTTGTAAATTGACCAGTTTTATCATTTCTTTGTTCAAATACAGCCAATATTTTAAATGGCAATTTGGCTTCTGTCTCTGACAAGTTCGGTCTCATAGCAAAAAGCATTTATGCACGCTCGTGTGTGTCAACCATAAAGAATTTAAAATCCATATTCAATCCGTTGATTGTTTTCTGTGTCCGCAGAGATGCAGAGGATGCTGTATATGGACGTGATGGCTATGACTATGACGGCTATCGTCTT[C/T]GAGTGGAGTTCCCAAGGAGTGGCAGGGGAGGTGGAAGAGGTGGAGGTGGAGGTGGTGGAGTTGGAGCTCCCAGAGGCAGATACGGACCTCCATCCAGGCGTTCGGAGTACAGGGTCATAGTGTCAGGTGAGCGCACCTCCAGTTTCTCACATCAATGTCTTGTTTTTCACACTCAGTTTAATTACTAGGCCCGAACAAGTGTTTGAGTGTTTTATTGGTTTAATAGCATGTTCATGATTGCATTAATATCAGAAACATTTTACCAAACCTTTTTTTTTTTTTTAAAGCAGACTTGGTTGTGCTTCATGAGTGTGTCCCTGACTTTGTAAAAAATCTTTTCTTCCAATATATTGCCAAGACTTACATTATATGATGTTGCAAAAAGTACTAGTTTTATTTTGACAGTTTGGCTAATTACTGACTGAACTTTTGGTTGCATTTTGTTTCTACACTTTCTAATTTGTGAAAAAATATTAGTAGTTATATAGAAGCAATAACTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12123
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 |
|---|---|---|---|---|---|
| ENSDART00000110646 | Essential Splice Site | None | 258 | None | 6 |
| ENSDART00000140865 | None | None | 125 | None | 2 |
| ENSDART00000143566 | None | None | 182 | 3 | 3 |
The following transcripts of ENSDARG00000017843 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 38405041)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 39525120 |
| GRCz11 | 21 | 39570178 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GATATGTGGAGGAGGAGGAGGAGCAGGCATTTCATTTAAGGAGGCAATGG[T/C]ATGACGGCAAGCAGCTTTAGTCACATTCAAAAMGGCAGTTGATGTTTTTC
Long Flanking Sequence:
TTTCTCTCATCTTTGGTTTGTTGGGTTTTTATGATTTGACTGTCATTTTGCCAATGGCAGCTACACGTGGTGTAAGTGGATGCTCCCCTTTCTCCCCTTTCCTTTCCCGTCAGTTTTTATTTTTATTTTTGTCGTCTCCTAAACCATGACCCTGTTGTGTCTTTGTCTTGCGTTCTCATTTTAATTGGATCTTCATACTCATCCCTTGTACTATATTTGACACAAGGGACTTGTTGAAATGCTTTAAATAGTTGTATGTGTGACGGATTATTCTGCTACTGTTTTTTTTTTTTTTTTGTTAACAATGCTTCATTAATTGGGATGGGGTCATTTTTTTGTTGGAAAACTGTTCTACTTTTACCTTTTCATGTCTTTCTATAGACAACAGAAGAGCAGGATTAAAGAAAGCTTTGGAATAAAGGATTTTGAAGCACAGTTCATTCATATTAGGATATGTGGAGGAGGAGGAGGAGCAGGCATTTCATTTAAGGAGGCAATGG[T/C]ATGACGGCAAGCAGCTTTAGTCACATTCAAAAAGGCAGTTGATGTTTTTCTACAGACTTCCAGTATTCTGGATTTTCTTAGTTCAGTAACACATTAGTTTTGCTTTGCCATTCTTCCTCCCTTCACAGCACTCCCCTTCCTCATTTAATTTACCTTTTTCTCACTGGTCATCGCTGCTAAGCATGCATGTGTACTGTCTGGATGTTGCAATGCTTGTGCGTACATTTAAGACCGTGTTTTGTTCCTTGTTTTTCTTTTGGATGTTTGAAATCCAAAAACATTTTTGCCTGTTGTCCAAAATGTGCTGGGATTTGGCCTTTATTGATCTTCCATGTAGATTTATCATTAGACAGCTGCAGTCGTTCTCATGTAAATTGTGTATTTGTCAAGAGAAAGTATCTGTTTTATTTCCTATCTTAGTTTTCCAAAGAAATAAGCACAATTTAATGTGTTTAGGCGGTGCTCTAAATTTCTTCCGGAGCATATCATCATAGTCTGGT
Associated Phenotype:
Not determined