ZMP
sf3b3
Ensembl ID:
ZFIN ID:
Description:
Splicing factor 3B subunit 3 [Source:UniProtKB/Swiss-Prot;Acc:Q1LVE8]
Human Orthologue:
SF3B3
Human Description:
splicing factor 3b, subunit 3, 130kDa [Source:HGNC Symbol;Acc:10770]
Mouse Orthologue:
Sf3b3
Mouse Description:
splicing factor 3b, subunit 3 Gene [Source:MGI Symbol;Acc:MGI:1289341]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45636 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45636
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000122831 | Essential Splice Site | 1088 | 1217 | None | 26 |
| ENSDART00000147743 | Essential Splice Site | 1088 | 1217 | None | 27 |
The following transcripts of ENSDARG00000089880 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 18 (position 18337393)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 18565937 |
| GRCz11 | 18 | 18555003 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAACAAAGCATTGTGGGACAGAGGCTTGCTTAACGGAGCTTCACAGAAGG[T/G]ATACGTTTCTACTACCCTCAATTTCTCATTTCCCACAGGTCCCGGAAACT
Long Flanking Sequence:
TGACAGGCATCCACACTATCGGCCAGCGTGTGATTGTTTCAGATGTTCAGGAGAGTCTGTTCTGGGTGCGCTATCGCCGCAATGAGAACCAACTCATCATCTTTGCTGACGATACTTATCCTCGGTGGATCACCACTGCCTGTCTGCTTGATTATGACACAATGGCTTCAGCGGATAAGTTTGGAAATATCTGCGTTGTGAGTGTCGCCACCTGCTTTGTTTTGAAACCTTTGAGACCAGTGTGCTCTATAGTCTGTTTGTCAAGCCAATATCACCAAAACAAACGTAAAAATATACCCCTGTAAATAATTACATTTTAACATTGTATTTTTTAGTAAATGCATTTGAGAATGAAAGTGGCATGCATTGGCATACTAAATGTATGCTAAATCTTTATTAGGTTCGCCTTCCCCCAAACACCAGCGATGATGTTGATGAGGACCCCACAGGGAACAAAGCATTGTGGGACAGAGGCTTGCTTAACGGAGCTTCACAGAAGG[T/G]ATACGTTTCTACTACCCTCAATTTCTCATTTCCCACAGGTCCCGGAAACTGACCTTTGGCACTGAGCTGTCCTAACCACTTGTTCCTGCATTGTTTTTGTCTGTCTGGTTGGTTTTGCGGTTGCTGTTCTCCTTGCTCACACTCAGACTTGCACCCCAGAACATTTGGCTTGCGTCCACTCTCCGCTTCTGGTTCTGAAACCTCAGCAGCAAATCTTGTCCTCTCGCCAGAGATCATTATGTGCAGATTAGTAGCATGGAAATGTTTAGGTGGAAACAAGGGAAAGTCCCTATTTGCACACCAATGACTTGCGTCTAGCTCTGACGGACATGCCTAAAGCATGTGTAATCAGGATTGTGGTGGACTAAACATATTGTGGAACCTGCCTAGGGGTGCAAAGTGTATCATAAGCAGATCCGTTATCAACTGATATTAGTTAGCTGATCACTGATATTAGTGTCATTTCCACCTGTTCGGCATCAGATAAAATTAAGATAAAT
Associated Phenotype:
Not determined