Incidental Mutation 'IGL02435:Tspan6'
ID293247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan6
Ensembl Gene ENSMUSG00000067377
Gene Nametetraspanin 6
SynonymsTm4sf6, 6720473L21Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02435
Quality Score
Status
ChromosomeX
Chromosomal Location133891068-133898429 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 133892744 bp
ZygosityHeterozygous
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]
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
AI314180 A G 4: 58,830,325 probably benign Het
Amph A G 13: 19,139,163 probably benign Het
Ankrd12 G T 17: 65,987,156 S427R probably damaging Het
Atp4a A G 7: 30,717,057 T420A probably benign Het
Braf C T 6: 39,646,766 S414N probably benign Het
C1rl T C 6: 124,508,873 L401P probably damaging Het
Elmo1 A T 13: 20,589,656 D612V probably damaging Het
Fbxo15 T C 18: 84,959,226 S88P probably damaging Het
Glrx3 A G 7: 137,461,396 N132S possibly damaging Het
Hamp G T 7: 30,943,899 Q29K probably benign Het
Igfbp2 G A 1: 72,852,086 R281Q probably damaging Het
Itih3 C T 14: 30,915,754 A483T probably damaging Het
Mrc1 C T 2: 14,248,860 Q231* probably null Het
Nif3l1 A G 1: 58,447,861 T69A possibly damaging Het
Ntrk1 A G 3: 87,788,732 F157S probably benign Het
Olfr1245 A G 2: 89,575,546 F60S probably damaging Het
Olfr1447 A T 19: 12,901,027 I251N probably damaging Het
Olfr694 A G 7: 106,689,503 V76A probably benign Het
Pck2 T C 14: 55,544,390 probably benign Het
Pdgfrb T C 18: 61,064,926 probably null Het
Ric8b A G 10: 84,980,076 N194S probably benign Het
Rlbp1 A G 7: 79,381,666 F105L probably damaging Het
Sde2 G T 1: 180,866,152 K402N probably damaging Het
Slc13a3 T C 2: 165,408,940 H461R possibly damaging Het
Spag17 A T 3: 99,982,444 I210F possibly damaging Het
Szt2 G A 4: 118,390,823 R735W probably damaging Het
Ugt8a A G 3: 125,867,320 S508P probably benign Het
Zfp217 T C 2: 170,119,453 D318G possibly damaging Het
Posted On2015-04-16