Gtf2i - SNV Details



 Human Rare Diseases 
Williams syndrome

 Gene Information 
Gene Name Gtf2i
Old Gene Names for Gtf2i 6030441i21rik
Gene Description general transcription factor II I [Source:MGI Symbol;Acc:MGI:1202722]
MGI phenotype Homozygotes for null allele is embryonic lethal, and show brain hemorrhage and neural tube defects. Although most heterozygote are normal and fertile, at low frequency, growth retardation and small head are also reported.
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; cytoplasm; DNA binding; cell projection; protein binding; neuronal cell body; nucleus; regulation of transcription
DNA-dependent; reduction of cytosolic calcium ion concentration; mitogen-activated protein kinase binding; negative regulation of angiogenesis; embryo development
Homolog in other species GTF2I
Omim http://omim.org/entry/601679
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
HIGH
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000060261
Chromosome 5
Coordinate 134,245,161     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 31
Allele Frequency
G:R0.55
A:V0.45
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL02553
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 60 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved