Incidental Mutation 'IGL02435:Tspan6'
ID 293247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan6
Ensembl Gene ENSMUSG00000067377
Gene Name tetraspanin 6
Synonyms Tm4sf6, 6720473L21Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02435
Quality Score
Status
Chromosome X
Chromosomal Location 132791817-132799178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132793493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 186 (Y186C)
Ref Sequence ENSEMBL: ENSMUSP00000135005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087557] [ENSMUST00000176641] [ENSMUST00000176718]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000087557
AA Change: Y231C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084838
Gene: ENSMUSG00000067377
AA Change: Y231C

DomainStartEndE-ValueType
Pfam:Tetraspannin 16 237 1.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176641
SMART Domains Protein: ENSMUSP00000135626
Gene: ENSMUSG00000067377

DomainStartEndE-ValueType
Pfam:Tetraspannin 42 167 3.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176718
AA Change: Y186C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135005
Gene: ENSMUSG00000067377
AA Change: Y186C

DomainStartEndE-ValueType
Pfam:Tetraspannin 16 150 4.8e-34 PFAM
transmembrane domain 166 188 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177468
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph A G 13: 19,323,333 (GRCm39) probably benign Het
Ankrd12 G T 17: 66,294,151 (GRCm39) S427R probably damaging Het
Atp4a A G 7: 30,416,482 (GRCm39) T420A probably benign Het
Braf C T 6: 39,623,700 (GRCm39) S414N probably benign Het
C1rl T C 6: 124,485,832 (GRCm39) L401P probably damaging Het
Ecpas A G 4: 58,830,325 (GRCm39) probably benign Het
Elmo1 A T 13: 20,773,826 (GRCm39) D612V probably damaging Het
Fbxo15 T C 18: 84,977,351 (GRCm39) S88P probably damaging Het
Glrx3 A G 7: 137,063,125 (GRCm39) N132S possibly damaging Het
Hamp G T 7: 30,643,324 (GRCm39) Q29K probably benign Het
Igfbp2 G A 1: 72,891,245 (GRCm39) R281Q probably damaging Het
Itih3 C T 14: 30,637,711 (GRCm39) A483T probably damaging Het
Mrc1 C T 2: 14,253,671 (GRCm39) Q231* probably null Het
Nif3l1 A G 1: 58,487,020 (GRCm39) T69A possibly damaging Het
Ntrk1 A G 3: 87,696,039 (GRCm39) F157S probably benign Het
Or2ag1b A G 7: 106,288,710 (GRCm39) V76A probably benign Het
Or4a72 A G 2: 89,405,890 (GRCm39) F60S probably damaging Het
Or5b97 A T 19: 12,878,391 (GRCm39) I251N probably damaging Het
Pck2 T C 14: 55,781,847 (GRCm39) probably benign Het
Pdgfrb T C 18: 61,197,998 (GRCm39) probably null Het
Ric8b A G 10: 84,815,940 (GRCm39) N194S probably benign Het
Rlbp1 A G 7: 79,031,414 (GRCm39) F105L probably damaging Het
Sde2 G T 1: 180,693,717 (GRCm39) K402N probably damaging Het
Slc13a3 T C 2: 165,250,860 (GRCm39) H461R possibly damaging Het
Spag17 A T 3: 99,889,760 (GRCm39) I210F possibly damaging Het
Szt2 G A 4: 118,248,020 (GRCm39) R735W probably damaging Het
Ugt8a A G 3: 125,660,969 (GRCm39) S508P probably benign Het
Zfp217 T C 2: 169,961,373 (GRCm39) D318G possibly damaging Het
Posted On 2015-04-16