Incidental Mutation 'IGL02701:Tspan4'
ID 304127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan4
Ensembl Gene ENSMUSG00000025511
Gene Name tetraspanin 4
Synonyms Tspan-4, novel antigen 2, Tm4sf7, NAG-2, D130042I01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL02701
Quality Score
Status
Chromosome 7
Chromosomal Location 141475240-141493427 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 141492028 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 205 (V205M)
Ref Sequence ENSEMBL: ENSMUSP00000113085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026585] [ENSMUST00000026586] [ENSMUST00000117634] [ENSMUST00000118694] [ENSMUST00000138092] [ENSMUST00000140858] [ENSMUST00000146305] [ENSMUST00000153191] [ENSMUST00000166082] [ENSMUST00000209452]
AlphaFold Q9DCK3
Predicted Effect probably damaging
Transcript: ENSMUST00000026585
AA Change: V205M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026585
Gene: ENSMUSG00000025511
AA Change: V205M

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 4.7e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026586
SMART Domains Protein: ENSMUSP00000026586
Gene: ENSMUSG00000025512

DomainStartEndE-ValueType
PDB:3BXW|A 4 240 1e-142 PDB
Blast:Glyco_18 82 302 1e-139 BLAST
SCOP:d1e9la1 84 240 1e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064642
SMART Domains Protein: ENSMUSP00000065953
Gene: ENSMUSG00000025512

DomainStartEndE-ValueType
PDB:3BXW|A 3 236 1e-143 PDB
Blast:Glyco_18 81 268 1e-121 BLAST
SCOP:d1e9la1 83 236 2e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117634
AA Change: V205M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113085
Gene: ENSMUSG00000025511
AA Change: V205M

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 230 1.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118694
SMART Domains Protein: ENSMUSP00000112891
Gene: ENSMUSG00000025512

DomainStartEndE-ValueType
PDB:3BXW|A 1 237 1e-142 PDB
Blast:Glyco_18 79 299 1e-139 BLAST
SCOP:d1e9la1 81 237 1e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130402
Predicted Effect probably benign
Transcript: ENSMUST00000138092
SMART Domains Protein: ENSMUSP00000115421
Gene: ENSMUSG00000025511

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 154 1.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140858
Predicted Effect probably benign
Transcript: ENSMUST00000146305
SMART Domains Protein: ENSMUSP00000118533
Gene: ENSMUSG00000025511

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 158 2.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147610
Predicted Effect probably benign
Transcript: ENSMUST00000153191
SMART Domains Protein: ENSMUSP00000114693
Gene: ENSMUSG00000025512

DomainStartEndE-ValueType
low complexity region 22 32 N/A INTRINSIC
Glyco_18 79 385 3.54e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166082
SMART Domains Protein: ENSMUSP00000130360
Gene: ENSMUSG00000025512

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
Glyco_18 82 388 3.54e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209452
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. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik A G 5: 5,466,623 probably null Het
4833423E24Rik A G 2: 85,484,169 L480P probably damaging Het
Arhgap21 A G 2: 20,892,091 C125R probably damaging Het
Blmh A G 11: 76,971,910 D383G probably benign Het
Brca1 T C 11: 101,525,235 E691G probably damaging Het
Chrm3 G A 13: 9,878,464 R179* probably null Het
Cnrip1 A G 11: 17,078,415 T116A probably benign Het
Csmd2 T C 4: 128,496,141 V2223A probably benign Het
Dalrd3 T A 9: 108,572,284 V143D possibly damaging Het
Ddx60 A T 8: 61,979,341 I886L probably damaging Het
Dennd4a T C 9: 64,897,353 F1325L possibly damaging Het
Dnmt3l A T 10: 78,055,022 T253S probably benign Het
Gde1 T A 7: 118,698,637 T9S probably damaging Het
Ggcx T A 6: 72,418,472 probably benign Het
Gm813 G A 16: 58,615,807 S51L probably benign Het
Hspg2 C T 4: 137,557,174 A3481V probably damaging Het
Igf1r T C 7: 68,201,249 Y931H possibly damaging Het
Ighv12-3 A C 12: 114,366,801 S25A probably damaging Het
Itga5 A C 15: 103,347,766 C920G probably damaging Het
Kmt5b A G 19: 3,796,681 D118G probably benign Het
Lrp1b T G 2: 41,246,017 N1647T possibly damaging Het
Lrrc71 T C 3: 87,741,772 E363G probably benign Het
Mapk1 A G 16: 17,015,906 Y41C probably benign Het
Mib1 T C 18: 10,747,357 V178A probably damaging Het
Olfr1022 A G 2: 85,869,458 I289V probably benign Het
Olfr159 A G 4: 43,770,366 I215T probably benign Het
Olfr472 A T 7: 107,903,442 T242S probably benign Het
Plb1 T C 5: 32,364,197 V1464A unknown Het
Plekhg5 T C 4: 152,103,022 S82P probably damaging Het
Plxna4 T C 6: 32,517,559 T41A probably benign Het
Ppip5k1 A C 2: 121,316,649 probably null Het
Rpl14 T C 9: 120,573,573 probably benign Het
Slc44a2 T C 9: 21,347,951 F554L probably benign Het
Slco1b2 T A 6: 141,685,545 V635E probably benign Het
Sv2a T A 3: 96,187,131 C261S probably damaging Het
Thbs2 T C 17: 14,683,361 I353V probably benign Het
Vezf1 A T 11: 88,076,221 R93* probably null Het
Wwox T A 8: 114,706,368 V258D probably damaging Het
Zmynd12 G T 4: 119,444,755 probably benign Het
Other mutations in Tspan4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03220:Tspan4 APN 7 141491799 missense probably damaging 1.00
R1609:Tspan4 UTSW 7 141491644 missense probably damaging 1.00
R5286:Tspan4 UTSW 7 141482570 splice site probably null
R5335:Tspan4 UTSW 7 141489615 missense probably damaging 1.00
R8343:Tspan4 UTSW 7 141491805 missense probably damaging 1.00
R9027:Tspan4 UTSW 7 141489664 missense probably benign
R9098:Tspan4 UTSW 7 141491903 missense probably benign 0.18
Posted On 2015-04-16