MmuEX0003627 @ mm9
Exon Skipping
Gene
ENSMUSG00000052374 | Actn2
Description
actinin alpha 2 [Source:MGI Symbol;Acc:MGI:109192]
Coordinates
chr13:12393202-12398628:-
Coord C1 exon
chr13:12398541-12398628
Coord A exon
chr13:12396581-12396659
Coord C2 exon
chr13:12393202-12393283
Length
79 bp
Sequences
Splice sites
3' ss Seq
TTCTTCTTTCTGTTGCGAAGCTG
3' ss Score
5.01
5' ss Seq
AAGGTCATT
5' ss Score
4.32
Exon sequences
Seq C1 exon
AAACATCTGCCAAAGAAGGGCTGCTGCTATGGTGTCAGAGGAAGACAGCTCCATACAGAAATGTGAATATCCAGAACTTCCACACCAG
Seq A exon
CTGGAAAGATGGCCTTGGACTCTGTGCCCTCATCCACAGACACCGGCCCGACCTCATTGACTACTCAAAGCTTAACAAG
Seq C2 exon
GATGACCCCATAGGAAACATTAACCTGGCCATGGAAATAGCAGAGAAGCACTTGGATATCCCTAAGATGTTGGATGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000052374_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (disopred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=PU(24.0=83.3)
A:
PF0030726=CH=FE(25.0=100)
C2:
PF0030726=CH=FE(26.0=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAAAGAAGGGCTGCTGCTAT
R:
TCAGCATCCAACATCTTAGGGA
Band lengths:
159-238
Functional annotations
There are 1 annotated functions for this event
PMID: 34816743
CRISPR/Cas9-mediated deletion of exon 6 from ACTN2 in hESCs, as well as forced expression of full-length ACTN2 in RBM24-/- hESCs, corroborated that inclusion of exon 6 is critical for sarcomere assembly.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Pre-implantation embryo development
- Neural differentiation time course
- Muscular differentiation time course
- Spermatogenesis cell types
- Reprogramming of fibroblasts to iPSCs
- Hematopoietic precursors and cell types