Incidental Mutation 'R0585:Tspan3'
ID 55717
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 038775-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.405) question?
Stock # R0585 (G1)
Quality Score 168
Status Validated
Chromosome 9
Chromosomal Location 56043168-56068354 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 56053216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034876] [ENSMUST00000215906] [ENSMUST00000216320]
AlphaFold Q9QY33
Predicted Effect probably benign
Transcript: ENSMUST00000034876
SMART Domains Protein: ENSMUSP00000034876
Gene: ENSMUSG00000032324

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 237 1.2e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214970
Predicted Effect probably benign
Transcript: ENSMUST00000215906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216317
Predicted Effect probably benign
Transcript: ENSMUST00000216320
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.2%
Validation Efficiency 100% (38/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brdt T G 5: 107,504,748 (GRCm39) probably null Het
Ccdc162 C T 10: 41,462,375 (GRCm39) C1474Y probably benign Het
Ces2e T C 8: 105,656,453 (GRCm39) S228P probably damaging Het
Clca3a1 G T 3: 144,738,386 (GRCm39) H41N probably benign Het
Cyp2c39 A T 19: 39,525,203 (GRCm39) I169F probably benign Het
Cyp2c65 A G 19: 39,057,686 (GRCm39) K107R probably benign Het
Cyp2c67 T A 19: 39,627,138 (GRCm39) N231Y possibly damaging Het
Eps8l3 G C 3: 107,788,513 (GRCm39) D33H probably damaging Het
Evi5 T C 5: 107,961,402 (GRCm39) probably benign Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Gm3993 T A 12: 20,122,149 (GRCm39) probably null Het
Gtf2ird1 A C 5: 134,405,796 (GRCm39) L28R probably damaging Het
Hsf4 A G 8: 105,997,663 (GRCm39) D75G probably damaging Het
Iqca1l A G 5: 24,755,721 (GRCm39) V267A probably benign Het
Larp4b A G 13: 9,197,529 (GRCm39) T249A probably damaging Het
Larp4b A G 13: 9,220,737 (GRCm39) D578G probably benign Het
Lyz3 T A 10: 117,074,356 (GRCm39) I44F possibly damaging Het
Matn3 A T 12: 9,011,103 (GRCm39) probably benign Het
Myo10 T A 15: 25,736,541 (GRCm39) Y428N probably damaging Het
Nf1 T A 11: 79,459,527 (GRCm39) D661E probably damaging Het
Nktr A G 9: 121,583,346 (GRCm39) probably benign Het
Npbwr1 G A 1: 5,986,677 (GRCm39) T279I possibly damaging Het
Or52n3 A C 7: 104,530,706 (GRCm39) H264P probably damaging Het
Osmr T C 15: 6,867,274 (GRCm39) I341V probably benign Het
Pan2 T C 10: 128,146,384 (GRCm39) probably null Het
Pknox2 G A 9: 36,821,056 (GRCm39) probably benign Het
Pla2g2d A C 4: 138,506,704 (GRCm39) D50A probably benign Het
Ptprk C T 10: 28,451,664 (GRCm39) L1051F probably damaging Het
Rap1gds1 G A 3: 138,727,633 (GRCm39) T59M probably benign Het
Rps5 T C 7: 12,659,332 (GRCm39) V41A possibly damaging Het
Ryr1 G T 7: 28,735,501 (GRCm39) D4092E probably damaging Het
Spic T C 10: 88,511,905 (GRCm39) Y117C probably damaging Het
Thrap3 A T 4: 126,072,367 (GRCm39) probably null Het
Tlr9 C T 9: 106,102,275 (GRCm39) T522I probably benign Het
Ttn T C 2: 76,703,503 (GRCm39) probably benign Het
Zfp773 T A 7: 7,135,574 (GRCm39) I341L probably benign Het
Zmat3 G A 3: 32,415,254 (GRCm39) P19S probably damaging Het
Other mutations in Tspan3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02880:Tspan3 APN 9 56,053,800 (GRCm39) missense possibly damaging 0.78
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
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'- GTCCAGGCAGTGACTAGAAAGTGAC -3'
(R):5'- GTGAACCTGCATAGCCAGGATGAG -3'

Sequencing Primer
(F):5'- TAGAAAGTGACAATCAGGTCACACTC -3'
(R):5'- tcagttcttcagtcacactaacc -3'
Posted On 2013-07-11