Scx,Bop1 - SNV Details



 Gene Information 
Gene Name Scx , Bop1
Old Gene Names for Scx Bb114693
Old Gene Names for Bop1 Au020183 , Aw146150 , D18861
Gene Description block of proliferation 1 [Source:MGI Symbol;Acc:MGI:1334460],scleraxis [Source:MGI Symbol;Acc:MGI:102934]
MGI phenotype Homozygotes for a targeted mutation develop normally up to E6.0-E6.5, but become arrested and fail to gastrulate and form mesodermal cells. In chimeric embryos, mutant cells are excluded from sclerotome-derived chondrogenic lineages but contribute to other cell types, including mesodermal tissues.,NO_PHENOTYPE
Uniprot Name
CCDS Name
Gene GO
nucleoplasm; regulation of cell cycle; cell proliferation; protein binding; cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA
5.8S rRNA
LSU-rRNA); ribonucleoprotein complex; ribonucleoprotein complex binding; PeBoW complex; rRNA processing; nucleolus; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA
5.8S rRNA
LSU-rRNA); ribosomal large subunit biogenesis
cell differentiation; sequence-specific DNA binding; negative regulation of transcription
DNA-dependent; tendon cell differentiation; heart valve morphogenesis; transcription
DNA-dependent; sclerotome development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of collagen biosynthetic process; E-box binding; tendon development; face morphogenesis; BMP signaling pathway; regulation of cartilage development; negative regulation of apoptotic process; cellular response to BMP stimulus; cellular response to transforming growth factor beta stimulus; mesoderm formation; DNA binding; collagen fibril organization; transcription factor complex; protein binding; positive regulation of cartilage development; embryonic skeletal system development; deltoid tuberosity development; nucleus; positive regulation of transcription
DNA-dependent; heart valve formation; chondrocyte differentiation; tendon formation; protein dimerization activity; endochondral ossification; positive regulation of gastrulation; cellular response to mechanical stimulus; tissue homeostasis; positive regulation of cell proliferation; Sertoli cell differentiation; positive regulation of gene expression; protein heterodimerization activity; bHLH transcription factor binding; cartilage development
Homolog in other species SCXB,BOP1
Omim http://omim.org/entry/610596,http://omim.org/entry/609067
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP),MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
Gnf Expression
HIGH(HIGHER IN IMM.G1, IMM.G3, AND EMB GROUP),LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034161
Chromosome 15
Coordinate 76,459,095     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 46
Allele Frequency
A:R0.52
G:V0.48
Amino Acid Position 200
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02221
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.05
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved