Col19a1 - SNV Details



 Gene Information 
Gene Name Col19a1
Gene Description collagen, type XIX, alpha 1 [Source:MGI Symbol;Acc:MGI:1095415]
MGI phenotype Homozygous null mice display postnatal lethality resulting from impaired swallowing, abnormal esophageal muscle development, and impaired muscle relaxation.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; cell adhesion; collagen; skeletal muscle tissue development; extracellular matrix organization
Homolog in other species COL19A1
Omim http://omim.org/entry/120165
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000026141
Chromosome 1
Coordinate 24,312,045     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 50
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL02040
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved