Special

MmuALTA0011080-2/4 @ mm9

Alternative 3'ss

Gene
ENSMUSG00000026766 | Mmadhc
Description
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:MGI Symbol;Acc:MGI:1923786]
Coordinates
chr2:50148329-50151829:-
Coord C1 exon
chr2:50151772-50151829
Coord A exon
chr2:50148380-50148418
Coord C2 exon
chr2:50148329-50148379
Length
39 bp
Sequences
Splice sites
5' ss Seq
CATGTAAGT
5' ss Score
8.31
3' ss Seq
CCCAGGATTTTGTTCTTTAGTGA
3' ss Score
4.31
Exon sequences
Seq C1 exon
GGATACTTTGCAGTGGGGCAAGAATTTGCGTCCGCCTTCTTCACTAGAAATGGCCCAT
Seq A exon
TGAAAAGAGTCATCAATCCAAGAGCCTTTTCAACTGCAG
Seq C2 exon
GATCTTCAGGTTCTGATGAGTCTCATGTGGCCACCGCACCTCCAGATATAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000026766-3-6,3-5,3-4,3-3-2/4
Average complexity
Alt3
Mappability confidence:
NA
Protein Impact





	

	
ORF disruption when splice site is used (sequence inclusion)





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.347
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
NO

							
A:
NA

							
C2:
PF102294=DUF2246=PU(11.6=65.3)

						

					

				








    
Main Inclusion Isoform:
NA





     
                   









    
Main Skipping Isoform:
ENSMUSP00000099830





     
      









    
Other Inclusion Isoforms:
NA
          









    
Other Skipping Isoforms:
ENSMUSP00000115961, ENSMUSP00000122804
  



Associated events






Other assemblies


mm10




Conservation


Human
(hg38)
No conservation detected
Human
(hg19)
chr2:150438731-150438732 
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
chr2:46652299-46652300 
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
chr7:36563091-36563092 
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
GGATACTTTGCAGTGGGGCA

				
R: 
TATATCTGGAGGTGCGGTGGC

				
Band lengths: 
108-147

			

		

	





	
Functional annotations
(Submit an annotation)

	


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






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