ZMP
SF1
Ensembl ID:
Description:
splicing factor 1 [Source:HGNC Symbol;Acc:12950]
Human Orthologues:
KHDRBS3, SF1
Human Descriptions:
KH domain containing, RNA binding, signal transduction associated 3 [Source:HGNC Symbol;Acc:18117]
splicing factor 1 [Source:HGNC Symbol;Acc:12950]
splicing factor 1 [Source:HGNC Symbol;Acc:12950]
Mouse Orthologue:
Khdrbs3
Mouse Description:
KH domain containing, RNA binding, signal transduction associated 3 Gene [Source:MGI Symbol;Acc:MGI:
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa12636 | Essential Splice Site | Available for shipment | Available now |
sa34782 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa12636
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000125996 | Essential Splice Site | 63 | 247 | 2 | 7 |
Genomic Location (Zv9):
Chromosome 9 (position 54510497)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN149702.1 | 84869 |
GRCz11 | KN149702.1 | 84869 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGCTAGAATGGGCCACGCTTTGGAGGAGATCAAAAAGTTCCTSATTCCGG[T/G]ACGWCTGTGCTGKTAWTACAGTGTCAGTGTGTTATTWCAGTATGCAGAAC
Long Flanking Sequence:
TATTATTATTATTATTGTTATTATTATTATTATTATTATTATTATTATTATTATTATCATTATCATTATTATTGTTGTTGTTATTATCATTTTTTAATATTTTTATTATTGTGGTTTTGGTTATTGTTTTTAATATTGTGTAAAAATATATAGATTTATTTTAATTTATAATTTTATAATAATATATTATAAAATCATCAATAAATAAATAAATATGTTTGTATGTATATTTATGATTTAATTTATGATTTATTTCAATGAATGCAATTCATTCCTGTGAAGCAAAGCAGAATTTCCAGCATCATTGTGCTAATGCCTAAATGTTTCTTTTGTTTTTCATTTACGTTAATAGGAAGAAGAGCTGCGAAAGAGCGGAGAGACAAAGTATCATCACCTGAATGAAGATCTCCATGTGCTTATTGAGGTGTTTGCTCCTCCGGCGGAAGCGTACGCTAGAATGGGCCACGCTTTGGAGGAGATCAAAAAGTTCCTCATTCCGG[T/G]ACGTCTGTGCTGTTATTACAGTGTCAGTGTGTTATTACAGTATGCAGAACGCAAGCCGAGCATCAGCATCTGTTACCTTGTTATGGTGTTTATTACCTTCAGACCAAAAAGTGCTATTTTAAAGGGGATCTTTTTAAATTGCGCTATTTTGGTGACTGTCATTTTAAATTCAAAAGAGATTGTGCTCTGAACCCTATTTTGAAAAAAAGGGCGGAGCTAAAAAAGCCTATGCATTGGCATAGCAGCAGATTCAAAATGGCTGCTTCTTACTCAGGGTTGTCTAGGCTAATGAGGGAGAGATCATCACTAACATGTAGGGCTTTCTCTCTCTGAAGACATGTACAAAGAAAGATTGTTAATCAAAGTGATTCTGCAGATGTTTTTTATCAAGTGTGATTATAAAAATTTAAATTTATTAATTATAAAATGTATTATTTAATTATTTATTTTTTCACCATTAGAAGCTGGTTATATTCACACACTGCTGACACACAATGATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34782
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:
Splice Site, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000125996 | Splice Site, Nonsense | 172 | 247 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 9 (position 54514816)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | KN149702.1 | 80550 |
GRCz11 | KN149702.1 | 80550 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAGGATACAGGCCTCCCCCTGCTGTTGTGCAGGACACATATGGAGAATA[T/A]GTGAGTAGCTCAAACATCTCTTTCTGTAGGTGGCACTCTAAGACGTTTTA
Long Flanking Sequence:
TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTCATCTAAATTTTTATGTAACGTTTAATTTTTGCATTTAAGTTTTCGTTTTCATTGTATTTGCAGGACTAGAGGGGGCGTTCCTCCTCCTCAGGCTGCGGTCCCGCGAGGGGCAGCGCCAAGAGGAGCTCCGCCCAGTAGAGTCCCCTCCAGCAGAGGAGTGGCCGTGTCCTCACGGAGAGCACGAGGAGCTCCGCCCCCACCAGGATACAGGCCTCCCCCTGCTGTTGTGCAGGACACATATGGAGAATA[T/A]GTGAGTAGCTCAAACATCTCTTTCTGTAGGTGGCACTCTAAGACGTTTTAGTAGGGTAACACAGGGGCTGTGTCAAAATTCACATAGGCTGCTTCCGAAATCACATACTTACCAACTGTATAGTATGTGAAAACAGCCTAGTAGGAGCCTAGCAGTCATATGTCAAACAGTATATGCGAGAAGTACCCAGATGACCTTCTACTACTGATTCTGAAGTGTGTATTCGCAACACAACTGATGCTGGTTGATCATGTCAAAATGGCAGATGTAGTATGTCCGAATTTCATTCATACTACACACATTGATACTATATAGAAAGTACTTTTCTAATGGTTGCAAAGTAAATTCAGATTCAAGTGTTGTACATACTCAAGTATTAGGCGATATAGAAAGTAGCTATACTATTTAGTTGGCGATATGATTCTGACAAGATTTCAAATTTTGCGAATGATGGATGATCATGTTAATGAGACACTGGATGAGCCACTCGGCCATGTGCA
Associated Phenotype:
Not determined