Id2 - SNV Details



 Gene Information 
Gene Name Id2
Old Gene Names for Id2 Idb2 , Ai255428 , C78922
Gene Description inhibitor of DNA binding 2 [Source:MGI Symbol;Acc:MGI:96397]
MGI phenotype Mice homozygous for disruptions in this gene display postnatal lethality with immune system defects. Homozygotes may also have defects in the digestive tract, kidneys, adipose tissue and in mammary gland development.
Uniprot Name
CCDS Name
Gene GO
DNA-dependent
Peyer's patch development
adipose tissue development
bundle of His development
cell development
cell maturation
cellular response to lithium ion
chromatin
cytoplasm
cytosol
entrainment of circadian clock
Homolog in other species ID2
Omim http://omim.org/entry/600386
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, PANCREAS, BROWNFAT, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020644
Chromosome 12
Coordinate 25,095,356     (Assembly: GRCm38)    
Ref Base C
Codon Change Gag/Tag
Var Base A
Zygosity Heterozygous
Read Depth 64
Allele Frequency
C:0.39
A:0.59
Amino Acid Position 123
Amino Acid Change E->Stop (Glutamic acid -> Stop)
Sample ID IGL00743
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability