Incidental Mutation 'R6727:Tspan3'
ID 529914
Institutional Source Beutler Lab
Gene Symbol Tspan3
Ensembl Gene ENSMUSG00000032324
Gene Name tetraspanin 3
Synonyms Tspan-3, 1700055K04Rik, tetraspanin, TM4-A, tetraspanin TM4-A homolog, Tm4sf8
MMRRC Submission 044845-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R6727 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 56043168-56068354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56054724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 108 (G108S)
Ref Sequence ENSEMBL: ENSMUSP00000148864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034876] [ENSMUST00000215906] [ENSMUST00000216320]
AlphaFold Q9QY33
Predicted Effect probably damaging
Transcript: ENSMUST00000034876
AA Change: G68S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034876
Gene: ENSMUSG00000032324
AA Change: G68S

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 237 1.2e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214970
Predicted Effect probably damaging
Transcript: ENSMUST00000215906
AA Change: G71S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216317
Predicted Effect probably damaging
Transcript: ENSMUST00000216320
AA Change: G108S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 98% (44/45)
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 use of alternate polyadenylation sites has been found for this gene. Multiple alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased hematopoietic stem cell number and decreased leukemia incidence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109A12Rik A G 5: 93,354,434 (GRCm39) probably benign Het
4930563M21Rik C T 9: 55,896,760 (GRCm39) V283I possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Allc T A 12: 28,607,388 (GRCm39) H288L probably damaging Het
Atg16l1 T C 1: 87,702,576 (GRCm39) I279T possibly damaging Het
Atp6v1b1 A G 6: 83,728,857 (GRCm39) probably benign Het
Barhl1 G A 2: 28,805,495 (GRCm39) P66L probably benign Het
Brd8dc T A 18: 34,713,894 (GRCm39) M244L probably benign Het
Cfap58 A T 19: 47,943,856 (GRCm39) D352V probably benign Het
Cyp3a44 T A 5: 145,731,781 (GRCm39) K122* probably null Het
Dnai1 G T 4: 41,625,308 (GRCm39) R424L probably benign Het
Dync1li2 G T 8: 105,167,167 (GRCm39) H79Q probably damaging Het
Fem1b A G 9: 62,704,015 (GRCm39) V415A possibly damaging Het
Fgb C T 3: 82,954,094 (GRCm39) S48N possibly damaging Het
Gm5624 T C 14: 44,799,332 (GRCm39) D31G possibly damaging Het
Gzmn T A 14: 56,403,432 (GRCm39) I226F probably damaging Het
H2-T5 A T 17: 36,476,622 (GRCm39) V284E probably damaging Het
Il31ra T C 13: 112,683,902 (GRCm39) S184G probably damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Kcnj15 A G 16: 95,097,193 (GRCm39) S272G probably damaging Het
Kcnk16 C T 14: 20,312,997 (GRCm39) A106T probably benign Het
Kmt2b A G 7: 30,283,984 (GRCm39) V876A probably damaging Het
Large2 G T 2: 92,201,215 (GRCm39) probably benign Het
Maml2 A T 9: 13,532,847 (GRCm39) probably benign Het
Me1 A G 9: 86,464,851 (GRCm39) L533P possibly damaging Het
Muc16 A G 9: 18,477,986 (GRCm39) probably null Het
Nova2 C A 7: 18,692,419 (GRCm39) T516K probably damaging Het
Or1l4 T A 2: 37,092,118 (GRCm39) N288K probably damaging Het
Or56b1 T C 7: 104,285,094 (GRCm39) I71T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Ppp2r1a T A 17: 21,176,087 (GRCm39) V103E probably benign Het
Prl3d3 G A 13: 27,341,147 (GRCm39) probably null Het
Rhbdf1 G T 11: 32,164,042 (GRCm39) A288E possibly damaging Het
Rnf213 T C 11: 119,321,147 (GRCm39) S1202P possibly damaging Het
Slc25a17 A G 15: 81,222,154 (GRCm39) V106A probably benign Het
Slc4a4 T G 5: 89,318,624 (GRCm39) S640A probably benign Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Tek G T 4: 94,741,732 (GRCm39) G830* probably null Het
Tgfb1 A T 7: 25,388,587 (GRCm39) probably benign Het
Themis T C 10: 28,657,903 (GRCm39) I157T probably damaging Het
Trmt12 A G 15: 58,744,514 (GRCm39) probably benign Het
Trrap T C 5: 144,793,760 (GRCm39) W3654R probably damaging Het
Ugt1a10 T A 1: 87,983,979 (GRCm39) probably null Het
Vps13b A G 15: 35,770,829 (GRCm39) K2091E probably benign Het
Wdr62 A T 7: 29,971,045 (GRCm39) V184D probably damaging Het
Zfp958 C A 8: 4,678,247 (GRCm39) Q90K probably benign Het
Other mutations in Tspan3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02880:Tspan3 APN 9 56,053,800 (GRCm39) missense possibly damaging 0.78
R0585:Tspan3 UTSW 9 56,053,216 (GRCm39) splice site probably benign
R0608:Tspan3 UTSW 9 56,054,669 (GRCm39) critical splice donor site probably null
R1067:Tspan3 UTSW 9 56,068,104 (GRCm39) missense probably benign 0.01
R1368:Tspan3 UTSW 9 56,054,783 (GRCm39) missense probably benign 0.08
R4673:Tspan3 UTSW 9 56,043,980 (GRCm39) missense probably damaging 1.00
R7701:Tspan3 UTSW 9 56,054,803 (GRCm39) nonsense probably null
R7995:Tspan3 UTSW 9 56,054,438 (GRCm39) missense probably benign
R8937:Tspan3 UTSW 9 56,053,883 (GRCm39) missense probably benign 0.44
R9147:Tspan3 UTSW 9 56,043,960 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTCTAGAGGTTTAAGGCATGTG -3'
(R):5'- CTGAGCAAGAGTAGGAACTTCG -3'

Sequencing Primer
(F):5'- AGGCATGTGTTAATACTCTGGTATAG -3'
(R):5'- ACTTCGGGGTTGGGACTCAAAC -3'
Posted On 2018-08-01