Special

MmuALTD0008629-2/2 @ mm9

Alternative 5'ss

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
chr2:50136619-50136622
Coord C2 exon
chr2:50135401-50135922
Length
4 bp
Sequences
Splice sites
5' ss Seq
TAAGTAAAT
5' ss Score
1.48
3' ss Seq
TCATTTCTCCTTTCCTCCAGTTT
3' ss Score
9.68
Exon sequences
Seq C1 exon
TTCATCAGTGGTGCTAAGGAGATCTGCTATGCCCTTCGGGCTGAAGGATACTGGGCTGACTTCATTGACCCATCATCTGGTGTGGCA
Seq A exon
GTAA
Seq C2 exon
TTTTTTGGACCATATACCAACAACACACTTTTTGAAACAGATGAACGGTACCGGCATTTAGGATTCTCAGTTGACGACCTTGGCTGCTGTAAAGTGATCCGTCACAGTCTCTGGGGCACTCATGTGGTTGTAGGAAGTATCTTCACTAACGCAACAGCAGACAGCAGTATCATGAGGAAGCTCAGTGGAAACTAGCAGCTGGCACTGTGATCCCTGCAGCGCTGTTTGTCTGTCATGGATTGCTCTATATAAACACTGTCATGGACAGCAGCTTCTAGAGGATTCTTGTTTCTAGGTATTTATTGTATCATTTATGGGTTTACATGGACAGGTGACTTGGGGTTTCAGAATTGCAAATGCTAGTTCCTATTCTGGAGTGCATGCTGAACACATCCATATTCTGCAAAGTGAGGTCATCAGCTTGTAACCAGGGTATGTGTGTTCTCTTAGGGTTGATTCTCCCCTTTATTGGGAAAACTTTAATTATTTTTTCCAAAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000026766-14-13,15-13-2/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact





	

	
Protein isoform when splice site is used (No Ref, Alt. Stop)





No structure available

		

			
Features


			

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

							
C2:
PF102294=DUF2246=PD(22.5=95.4)

						

					

				








    
Main Inclusion Isoform:
NA





     
                   









    
Main Skipping Isoform:
ENSMUSP00000099830





     
      









    
Other Inclusion Isoforms:
NA
          









    
Other Skipping Isoforms:
ENSMUSP00000099830f1987A, ENSMUSP00000122804
  



Associated events






Other assemblies


mm10




Conservation


Human
(hg38)
chr2:149571081-149571171 
LOW PSI
HsaALTD1034373-2/2
(MMADHC)
Human
(hg19)
chr2:150427593-150427594 
Rat
(rn6)
chr3:35784779-35784780 
Cow
(bosTau6)
chr2:46663171-46663261 
LOW PSI
BtaALTD0013501-2/2
(MMADHC)
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
chr7:36556422-36556424 
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
CTGGGCTGACTTCATTGACCC

				
R: 
GCCGGTACCGTTCATCTGTTT

				
Band lengths: 
92-96

			

		

	





	
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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