Cux1 - SNV Details



 Gene Information 
Gene Name Cux1
Old Gene Names for Cux1 Aa407197 , Cutl1
Gene Description cut-like homeobox 1 [Source:MGI Symbol;Acc:MGI:88568]
MGI phenotype Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters.
Uniprot Name
CCDS Name
Gene GO
sequence-specific DNA binding; protein binding
bridging; chromatin binding; Golgi membrane; cytoplasm; auditory receptor cell differentiation; DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; lung development; regulation of transcription
DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; integral to Golgi membrane; retrograde transport
vesicle recycling within Golgi; intra-Golgi vesicle-mediated transport
Homolog in other species CUX1
Immgen Expression
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000029705
Chromosome 5
Coordinate 136,304,718     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 10
Allele Frequency
G:R0.40
A:V0.60
Amino Acid Change Disrupted splicing
Sample ID IGL01129
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved