Col7a1 - SNV Details



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