Itgbl1 - SNV Details



 Gene Information 
Gene Name Itgbl1
Old Gene Names for Itgbl1 B930011d01rik
Gene Description integrin, beta-like 1 [Source:MGI Symbol;Acc:MGI:2443439]
Uniprot Name
CCDS Name
Gene GO
receptor activity; protein binding; cellular_component; integrin complex; cell-matrix adhesion; extracellular region; integrin-mediated signaling pathway; biological_process; receptor binding; molecular_function
Homolog in other species ITGBL1
Omim http://omim.org/entry/604234
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN OSTEOBLASTS)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000032925
Chromosome 14
Coordinate 123,827,743     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.39
T:V0.61
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL02483
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved