Incidental Mutation 'R1368:Tspan3'
ID 155883
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 039433-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R1368 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 56043168-56068354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56054783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 48 (V48E)
Ref Sequence ENSEMBL: ENSMUSP00000034876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034876] [ENSMUST00000215906] [ENSMUST00000216320]
AlphaFold Q9QY33
Predicted Effect probably benign
Transcript: ENSMUST00000034876
AA Change: V48E

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000034876
Gene: ENSMUSG00000032324
AA Change: V48E

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 237 1.2e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214970
Predicted Effect probably benign
Transcript: ENSMUST00000215906
AA Change: V51E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216317
Predicted Effect probably benign
Transcript: ENSMUST00000216320
AA Change: V88E

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (55/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,241,836 (GRCm39) D1233G probably benign Het
Abcc8 G A 7: 45,772,284 (GRCm39) R832W probably damaging Het
Atp10b A G 11: 43,092,981 (GRCm39) T439A probably damaging Het
Brd10 C A 19: 29,693,796 (GRCm39) S1966I probably damaging Het
C130073F10Rik T A 4: 101,747,953 (GRCm39) N74Y possibly damaging Het
Cct8 G A 16: 87,288,200 (GRCm39) S124L probably damaging Het
Cdh9 T A 15: 16,848,568 (GRCm39) probably benign Het
Cep290 C T 10: 100,330,828 (GRCm39) probably benign Het
Chrng T A 1: 87,133,575 (GRCm39) L10H probably damaging Het
Cnn3 T C 3: 121,250,786 (GRCm39) L189S probably benign Het
Cog4 A G 8: 111,585,157 (GRCm39) probably benign Het
Cxcl12 A G 6: 117,153,111 (GRCm39) probably benign Het
Eif2b2 G A 12: 85,270,230 (GRCm39) A257T probably damaging Het
Entrep2 A T 7: 64,469,625 (GRCm39) V41E probably damaging Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,858,903 (GRCm39) Q2341R possibly damaging Het
Fktn G A 4: 53,734,880 (GRCm39) G173R probably damaging Het
Gabbr2 T C 4: 46,674,464 (GRCm39) N841S probably benign Het
Gm5622 T A 14: 51,899,647 (GRCm39) V167E possibly damaging Het
Gnaq T C 19: 16,355,651 (GRCm39) V289A probably benign Het
Gpatch2l T G 12: 86,307,439 (GRCm39) D272E possibly damaging Het
Gzmg G A 14: 56,395,263 (GRCm39) T74I probably benign Het
Ikzf2 G A 1: 69,578,474 (GRCm39) A271V possibly damaging Het
Lig4 T C 8: 10,021,176 (GRCm39) D868G possibly damaging Het
Mfsd6 T C 1: 52,747,764 (GRCm39) E367G possibly damaging Het
Mpz T C 1: 170,987,533 (GRCm39) L223P probably damaging Het
Muc17 T C 5: 137,175,674 (GRCm39) probably benign Het
Or2f1b C A 6: 42,739,613 (GRCm39) T209K possibly damaging Het
Pdcd2 G T 17: 15,746,846 (GRCm39) N104K probably damaging Het
Pigg G T 5: 108,465,154 (GRCm39) G129V probably damaging Het
Ppp3cc T C 14: 70,483,311 (GRCm39) Y254C probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Psg23 A G 7: 18,348,645 (GRCm39) V54A probably benign Het
Psmd3 A G 11: 98,573,746 (GRCm39) D64G probably damaging Het
Psmg2 CTTCAGTT CTTCAGTTCAGTT 18: 67,779,095 (GRCm39) probably null Het
Ptgdr T A 14: 45,090,799 (GRCm39) I320F probably damaging Het
Rad50 T A 11: 53,574,072 (GRCm39) K722* probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rgs9 G A 11: 109,138,977 (GRCm39) S255L probably benign Het
Ror1 C T 4: 100,298,334 (GRCm39) P569L possibly damaging Het
Rsad2 T C 12: 26,497,147 (GRCm39) probably null Het
Scn8a A G 15: 100,933,422 (GRCm39) D1501G probably damaging Het
Sema3c A G 5: 17,883,330 (GRCm39) T313A possibly damaging Het
Serpinc1 T A 1: 160,821,094 (GRCm39) F59L probably damaging Het
Sike1 A G 3: 102,903,500 (GRCm39) D63G possibly damaging Het
Slc25a11 T A 11: 70,536,352 (GRCm39) probably null Het
Slc32a1 A G 2: 158,453,240 (GRCm39) M27V probably benign Het
Smc5 A G 19: 23,187,807 (GRCm39) V1003A probably damaging Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Topaz1 A G 9: 122,577,315 (GRCm39) E75G possibly damaging Het
Ugt1a6b T C 1: 88,035,358 (GRCm39) I232T probably benign Het
Unc79 A G 12: 103,122,772 (GRCm39) K2290E probably damaging Het
Vmn1r19 T C 6: 57,381,656 (GRCm39) F70L 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
R4673:Tspan3 UTSW 9 56,043,980 (GRCm39) missense probably damaging 1.00
R6727:Tspan3 UTSW 9 56,054,724 (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'- ACAGCCCTCCATAGTCTGACATTGG -3'
(R):5'- CAATAATGCTTTCTGCACCCGTGAC -3'

Sequencing Primer
(F):5'- CTCCATAGTCTGACATTGGAGAGTG -3'
(R):5'- atagagcccagcacatcac -3'
Posted On 2014-02-11