Stil - SNV Details



 Human Rare Diseases 
Autosomal recessive primary microcephaly
Precursor T-cell acute lymphoblastic leukemia

 Gene Information 
Gene Name Stil
Old Gene Names for Stil Sil
Gene Description Scl/Tal1 interrupting locus [Source:MGI Symbol;Acc:MGI:107477]
MGI phenotype Mice homozygous for disruptions in this gene die as embryos with various neural tube defects.
Uniprot Name
CCDS Name
Gene GO
embryonic axis specification; neural tube development; negative regulation of apoptotic process; in utero embryonic development; neural tube closure; multicellular organism growth; floor plate development; determination of left/right symmetry; notochord development; forebrain development; smoothened signaling pathway; centrosome; heart looping
Homolog in other species STIL
Omim http://omim.org/entry/181590
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028718
Chromosome 4
Coordinate 115,010,111     (Assembly: GRCm38)    
Ref Base C
Codon Change tCa/tTa
Var Base T
Zygosity Heterozygous
Read Depth 79
Allele Frequency
C:R0.57
T:V0.43
Amino Acid Position 239
Amino Acid Change S->L (Serine -> Leucine)
Sample ID IGL02355
Median Base Quality 39
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability