MmuEX0030346 @ mm10
Exon Skipping
Gene
ENSMUSG00000020900 | Myh10
Description
myosin, heavy polypeptide 10, non-muscle [Source:MGI Symbol;Acc:MGI:1930780]
Coordinates
chr11:68745317-68752034:+
Coord C1 exon
chr11:68745317-68745419
Coord A exon
chr11:68745935-68745964
Coord C2 exon
chr11:68751942-68752034
Length
30 bp
Sequences
Splice sites
3' ss Seq
TATCTGTTTGTAATGAGCAGCAG
3' ss Score
2.12
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
Exon sequences
Seq C1 exon
GGGTGAATCGGGTGCCGGGAAGACAGAAAATACCAAGAAAGTCATTCAGTACCTTGCCCACGTTGCTTCTTCTCACAAAGGAAGAAAGGACCATAATATTCCT
Seq A exon
CAGGAATCGCCTAAGCCCGTGAAACCCCAG
Seq C2 exon
GGGGAACTTGAACGGCAGCTTTTACAAGCAAATCCAATTCTGGAATCCTTTGGAAATGCGAAGACTGTGAAAAATGATAACTCATCTCGCTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000020900_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.264 A=0.780 C2=0.097
Domain overlap (PFAM):
C1:
PF0006316=Myosin_head=FE(25.0=100)
A:
PF0006316=Myosin_head=FE(1.3=100)
C2:
PF0006316=Myosin_head=FE(4.2=100)
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGCCGGGAAGACAGAAAAT
R:
AAAGCTGCCGTTCAAGTTCCC
Band lengths:
115-145
Functional annotations
There are 1 annotated functions for this event
PMID: 16481398
This event
The B1-inserted isoform of NMHC II-B, which contains an insert of 10 amino acids (MmuEX0030346) near the ATP-binding region (loop 1) of the myosin heavy chain, is involved in normal migration of facial neurons. Deletion of the B1 alternative exon, together with reduced expression of myosin II-B, results in abnormal migration and consequent protrusion of facial neurons into the fourth ventricle. This protrusion is associated with the development of hydrocephalus. Restoring the amount of myosin II-B expression to wild-type levels prevents these defects, showing the importance of total myosin activity in facial neuron migration.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Pre-implantation embryo development
- Ribosome-engaged transcriptomes of neuronal types
- Neural differentiation time course
- Muscular differentiation time course
- Spermatogenesis cell types
- Reprogramming of fibroblasts to iPSCs
- Hematopoietic precursors and cell types