Irx5 - SNV Details



 Human Rare Diseases 
Craniofacial dysplasia-osteopenia syndrome

 Gene Information 
Gene Name Irx5
Gene Description Iroquois related homeobox 5 (Drosophila) [Source:MGI Symbol;Acc:MGI:1859086]
MGI phenotype Mice homozygous for a knock-out allele exhibit reduced body size, narrow eye opening, and impaired retinal cone bipolar cell development.
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; response to stimulus; transcription
DNA-dependent; retinal bipolar neuron differentiation; cell development; DNA binding; sequence-specific DNA binding transcription factor activity; regulation of gene expression; nucleus; visual perception; regulation of transcription
DNA-dependent; gonad development; regulation of heart rate; embryonic cranial skeleton morphogenesis; neuron maturation
Homolog in other species IRX5
Omim http://omim.org/entry/606195
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031737
Chromosome 8
Coordinate 92,360,703     (Assembly: GRCm38)    
Ref Base A
Codon Change cAt/cTt
Var Base T
Zygosity Heterozygous
Read Depth 60
Allele Frequency
A:R0.58
T:V0.42
Amino Acid Position 421
Amino Acid Change H->L (Histidine -> Leucine)
Sample ID IGL01735
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.11
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Line Propagating