Tns1 - SNV Details



 Gene Information 
Gene Name Tns1
Old Gene Names for Tns1 1110018i21rik , 1200014e20rik , Ai648117 , E030037j05rik , E030018g17rik , Tns
Gene Description tensin 1 [Source:MGI Symbol;Acc:MGI:104552]
MGI phenotype Homozygous null mice become frail and develop cystic kidneys after several months of life. Progressive cyst formation led to kidney degeneration and death from renal failure.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; fibroblast migration; metal ion binding; intracellular; protein binding; cell-substrate junction; cell-substrate junction assembly; actin binding; focal adhesion
Homolog in other species TNS1
Omim http://omim.org/entry/600076
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000055322
Chromosome 1
Coordinate 73,953,810     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Tcc
Var Base A
Zygosity Heterozygous
Read Depth 39
Allele Frequency
T:R0.59
A:V0.41
Amino Acid Position 570
Amino Acid Change T->S (Threonine -> Serine)
Sample ID IGL01288
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0.56
Polyphen Prediction Possibly damaging
Sift Score 0.05
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved