Col13a1 - SNV Details



 Gene Information 
Gene Name Col13a1
Gene Description collagen, type XIII, alpha 1 [Source:MGI Symbol;Acc:MGI:1277201]
MGI phenotype Mice homozygous for an allele lacking the transmembrane exhibit small muscle fibers and are susceptible to excerise-induced muscle damage and muscle inflammation. Mice homozygous for a knock-out allele exhibit tremors and abnormal neuromuscular junction morphology and endplate potential.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; collagen trimer; cell-cell junction; protein binding; single organismal cell-cell adhesion; integral component of membrane; morphogenesis of a branching structure; heparin binding; endochondral ossification; cell-matrix adhesion; plasma membrane
Homolog in other species COL13A1
Omim http://omim.org/entry/120350
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
MEDIAN(HIGH IN LUNG)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000058806
Chromosome 10
Coordinate 61,905,285     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 12
Allele Frequency
A:R0.58
T:V0.42
Amino Acid Change Disrupted splicing
Splice Position 5
Sample ID IGL02884
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved