Incidental Mutation 'IGL02880:Tspan3'
ID 362767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan3
Ensembl Gene ENSMUSG00000032324
Gene Name tetraspanin 3
Synonyms Tspan-3, 1700055K04Rik, tetraspanin, TM4-A, tetraspanin TM4-A homolog, Tm4sf8
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # IGL02880
Quality Score
Status
Chromosome 9
Chromosomal Location 56043168-56068354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56053800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 184 (Q184K)
Ref Sequence ENSEMBL: ENSMUSP00000148864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034876] [ENSMUST00000215906] [ENSMUST00000216320]
AlphaFold Q9QY33
Predicted Effect possibly damaging
Transcript: ENSMUST00000034876
AA Change: Q144K

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034876
Gene: ENSMUSG00000032324
AA Change: Q144K

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 237 1.2e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214970
Predicted Effect possibly damaging
Transcript: ENSMUST00000215906
AA Change: Q147K

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216317
Predicted Effect possibly damaging
Transcript: ENSMUST00000216320
AA Change: Q184K

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
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 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankzf1 T C 1: 75,169,312 (GRCm39) S73P probably benign Het
Camsap3 T C 8: 3,653,913 (GRCm39) Y517H probably damaging Het
Catsperg1 C T 7: 28,894,910 (GRCm39) M562I possibly damaging Het
Ccdc18 A G 5: 108,283,310 (GRCm39) D7G probably benign Het
Ccdc65 A C 15: 98,606,973 (GRCm39) N60T probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Col19a1 A G 1: 24,365,054 (GRCm39) probably benign Het
Ddx6 T C 9: 44,524,194 (GRCm39) probably benign Het
Dync1i1 G A 6: 5,966,821 (GRCm39) probably null Het
Eml6 T C 11: 29,699,959 (GRCm39) N1726D probably benign Het
Exosc10 T C 4: 148,660,640 (GRCm39) S706P probably damaging Het
Fcamr C T 1: 130,741,071 (GRCm39) P497S probably benign Het
Galntl6 T C 8: 58,257,306 (GRCm39) E477G probably benign Het
Gatd1 T G 7: 140,990,951 (GRCm39) Q65H possibly damaging Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Lag3 A G 6: 124,882,434 (GRCm39) L354S probably benign Het
Lrp1 A C 10: 127,376,091 (GRCm39) V4342G probably benign Het
Rap1gds1 T C 3: 138,651,517 (GRCm39) I491V probably benign Het
Scrib A G 15: 75,937,973 (GRCm39) L291P probably damaging Het
Shoc2 T C 19: 54,019,525 (GRCm39) Y523H probably benign Het
Slc47a2 C T 11: 61,198,366 (GRCm39) G443E probably damaging Het
Smarca2 T A 19: 26,654,024 (GRCm39) probably benign Het
Stra6l C T 4: 45,885,278 (GRCm39) T582M possibly damaging Het
Tmem144 G A 3: 79,734,929 (GRCm39) T163I probably benign Het
Tnfrsf17 T C 16: 11,137,622 (GRCm39) Y120H probably damaging Het
Ttn A T 2: 76,628,270 (GRCm39) V14630D possibly damaging Het
Zfp236 T A 18: 82,642,584 (GRCm39) N1054I probably benign Het
Other mutations in Tspan3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-12-18