Lama3 - SNV Details



 Human Rare Diseases 
Junctional epidermolysis bullosa, Herlitz type
LOC syndrome
Generalized junctional epidermolysis bullosa, non-Herlitz type

 Gene Information 
Gene Name Lama3
Gene Description laminin, alpha 3 [Source:MGI Symbol;Acc:MGI:99909]
MGI phenotype Mice homozygous for a targeted null mutation develop a lethal blistering phenotype similar to human junctional epidermolysis bullosa, and die 2-3 days after birth from a failure to thrive.
Uniprot Name
CCDS Name
Gene GO
basement membrane; regulation of cell migration; cell adhesion; regulation of embryonic development; protein binding; extracellular region; receptor binding; laminin-1 complex; regulation of cell adhesion; laminin-5 complex
Homolog in other species LAMA3
Omim http://omim.org/entry/600805
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024421
Chromosome 18
Coordinate 12,578,127     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 31
Allele Frequency
T:R0.45
C:V0.55
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL02733
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability