Kctd1 - SNV Details



 Human Rare Diseases 
Scalp-ear-nipple syndrome

 Gene Information 
Gene Name Kctd1
Old Gene Names for Kctd1 Aw553000 , Ai661543 , 4933402k10rik
Gene Description potassium channel tetramerisation domain containing 1 [Source:MGI Symbol;Acc:MGI:1918269]
Uniprot Name
CCDS Name
Gene GO
negative regulation of transcription
DNA-dependent; transcription
DNA-dependent; transcription corepressor activity; protein binding; nucleus; protein homooligomerization; transcription factor binding
Homolog in other species KCTD1
Omim http://omim.org/entry/613420
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
HIGH(LOWER IN PANCREAS, IMM.G3, SPLEEN)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036225
Chromosome 18
Coordinate 15,062,690     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gCc
Var Base G
Zygosity Heterozygous
Read Depth 44
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Position 292
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01318
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.38
Polyphen Prediction Benign
Sift Score 0.23
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000128070:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Protein of unknown function DUF3504 DUF3504 IPR021893 ENSMUSP00000128070 Pfam 278
437 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved