Col7a1 - SNV Details



 Human Rare Diseases 
Transient bullous dermolysis of the newborn
Pruriginous dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa, nails only
Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
Acral dystrophic epidermolysis bullosa
Centripetal dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Epidermolysis bullosa simplex superficialis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Dystrophic epidermolysis bullosa inversa

 Gene Information 
Gene Name Col7a1
Old Gene Names for Col7a1 Aw209154
Gene Description collagen, type VII, alpha 1 [Source:MGI Symbol;Acc:MGI:88462]
MGI phenotype Mice homozygous for this targeted mutation are postnatal lethal, exhibit a severe blistering phenotype, and provide an excellent mouse model for recessive dystrophic epidermolysis bullosa.
Uniprot Name
CCDS Name
Gene GO
basement membrane; cell adhesion; serine-type endopeptidase inhibitor activity; protein binding; collagen
Homolog in other species COL7A1
Omim http://omim.org/entry/120120
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000025650
Chromosome 9
Coordinate 108,967,999     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 21
Allele Frequency
T:R0.43
A:V0.57
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL01936
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 69 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability