MmuEX0029280 @ mm9
Exon Skipping
Gene
ENSMUSG00000026766 | Mmadhc
Description
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:MGI Symbol;Acc:MGI:1923786]
Coordinates
chr2:50135401-50136709:-
Coord C1 exon
chr2:50136623-50136709
Coord A exon
chr2:50136093-50136178
Coord C2 exon
chr2:50135401-50135922
Length
86 bp
Sequences
Splice sites
3' ss Seq
AATCATTTTTTAATTTTAAGGTA
3' ss Score
8.69
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
TTCATCAGTGGTGCTAAGGAGATCTGCTATGCCCTTCGGGCTGAAGGATACTGGGCTGACTTCATTGACCCATCATCTGGTGTGGCA
Seq A exon
GTAGAAACAGATACTTTCTGCTTCTCAGTCAAGTACAGTGTCGTATAGACTAGAAGACTTATCTTCCTTTAGTAGAAGAGATGGAG
Seq C2 exon
TTTTTTGGACCATATACCAACAACACACTTTTTGAAACAGATGAACGGTACCGGCATTTAGGATTCTCAGTTGACGACCTTGGCTGCTGTAAAGTGATCCGTCACAGTCTCTGGGGCACTCATGTGGTTGTAGGAAGTATCTTCACTAACGCAACAGCAGACAGCAGTATCATGAGGAAGCTCAGTGGAAACTAGCAGCTGGCACTGTGATCCCTGCAGCGCTGTTTGTCTGTCATGGATTGCTCTATATAAACACTGTCATGGACAGCAGCTTCTAGAGGATTCTTGTTTCTAGGTATTTATTGTATCATTTATGGGTTTACATGGACAGGTGACTTGGGGTTTCAGAATTGCAAATGCTAGTTCCTATTCTGGAGTGCATGCTGAACACATCCATATTCTGCAAAGTGAGGTCATCAGCTTGTAACCAGGGTATGTGTGTTCTCTTAGGGTTGATTCTCCCCTTTATTGGGAAAACTTTAATTATTTTTTCCAAAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000026766_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion (Alt. Stop)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF102294=DUF2246=FE(12.8=100),PF133151=DUF4085=PD(12.5=48.3),PF106444=Misat_Tub_SegII=PD(1.0=3.4)
A:
PF102294=DUF2246=PD(1.8=25.0)
C2:
PF102294=DUF2246=PD(22.5=95.4)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Human
(hg38)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGGCTGACTTCATTGACCC
R:
CTACAACCACATGAGTGCCCC
Band lengths:
170-256
Functional annotations
There are 0 annotated functions for this event
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