Thoc5 - SNV Details



 Gene Information 
Gene Name Thoc5
Old Gene Names for Thoc5 1700060c24rik , Fmip , A430085l24rik
Gene Description THO complex 5 [Source:MGI Symbol;Acc:MGI:1351333]
MGI phenotype Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E5.5.
Uniprot Name
CCDS Name
Gene GO
positive regulation of DNA-templated transcription
elongation; primitive hemopoiesis; mRNA export from nucleus; stem cell division; negative regulation of DNA damage checkpoint; mRNA binding; negative regulation of macrophage differentiation; cytoplasm; RNA splicing; cell morphogenesis; monocyte differentiation; blastocyst development; regulation of gene expression; protein binding; THO complex part of transcription export complex; nuclear speck; transcription export complex; nucleus; THO complex; intermediate filament cytoskeleton; regulation of stem cell division; regulation of mRNA export from nucleus; mRNA processing; viral mRNA export from host cell nucleus
Homolog in other species THOC5
Omim http://omim.org/entry/612733
Immgen Expression
HIGH(LOWER IN GN.BM)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034274
Chromosome 11
Coordinate 4,904,201     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:R0.54
G:V0.46
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02970
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved