Incidental Mutation 'R5879:Tspan8'
ID 455725
Institutional Source Beutler Lab
Gene Symbol Tspan8
Ensembl Gene ENSMUSG00000034127
Gene Name tetraspanin 8
Synonyms Tm4sf3, E330007O21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5879 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 115652737-115685798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115669156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 64 (S64P)
Ref Sequence ENSEMBL: ENSMUSP00000136645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035563] [ENSMUST00000080630] [ENSMUST00000179196] [ENSMUST00000217900]
AlphaFold Q8R3G9
Predicted Effect possibly damaging
Transcript: ENSMUST00000035563
AA Change: S64P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: S64P

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 4.8e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000080630
AA Change: S64P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: S64P

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 8.3e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179196
AA Change: S64P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: S64P

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 8.3e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217900
AA Change: S64P

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220081
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
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 that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 C T 7: 44,796,930 (GRCm39) W66* probably null Het
Arhgap39 T C 15: 76,636,007 (GRCm39) D76G probably damaging Het
Arhgef2 G A 3: 88,550,924 (GRCm39) probably null Het
C1qtnf2 T C 11: 43,376,835 (GRCm39) M99T probably damaging Het
Cyren A G 6: 34,851,593 (GRCm39) L87P probably damaging Het
Eml3 G A 19: 8,912,379 (GRCm39) C392Y possibly damaging Het
Ephb4 C A 5: 137,358,678 (GRCm39) P287Q probably benign Het
Fat4 G T 3: 38,941,485 (GRCm39) R126L probably benign Het
Flt3 T C 5: 147,271,719 (GRCm39) M858V probably damaging Het
Gprin3 A C 6: 59,331,698 (GRCm39) I203R probably benign Het
Insr G T 8: 3,248,173 (GRCm39) Y457* probably null Het
Ipo13 G A 4: 117,760,400 (GRCm39) T649I possibly damaging Het
Krba1 A G 6: 48,392,678 (GRCm39) D818G possibly damaging Het
Llgl1 G A 11: 60,603,806 (GRCm39) G1016R probably benign Het
Loxl4 A G 19: 42,596,066 (GRCm39) V142A probably benign Het
Mthfd1 A G 12: 76,340,992 (GRCm39) I464V probably benign Het
Mycs C A X: 5,380,131 (GRCm39) K316N probably damaging Het
Ncor2 A G 5: 125,103,839 (GRCm39) probably benign Het
Nlrc3 A G 16: 3,781,909 (GRCm39) F516S probably damaging Het
Oacyl A G 18: 65,882,743 (GRCm39) S540G probably damaging Het
Olfml2a A T 2: 38,850,242 (GRCm39) T653S probably damaging Het
Or8s16 C T 15: 98,211,369 (GRCm39) V21I probably benign Het
Pcnx2 A T 8: 126,500,685 (GRCm39) N1468K probably damaging Het
Plbd1 A G 6: 136,611,503 (GRCm39) I258T probably damaging Het
Ppargc1b C G 18: 61,442,164 (GRCm39) D591H probably damaging Het
Pramel21 A T 4: 143,344,161 (GRCm39) Y487F possibly damaging Het
Prop1 C T 11: 50,844,153 (GRCm39) V27M probably damaging Het
Rfx4 T G 10: 84,650,625 (GRCm39) probably null Het
Rgs11 C T 17: 26,422,437 (GRCm39) probably benign Het
Slc6a5 T A 7: 49,595,260 (GRCm39) F541I probably damaging Het
Srgap3 A T 6: 112,699,807 (GRCm39) V1057E possibly damaging Het
Synpo2 A T 3: 122,907,946 (GRCm39) W457R probably damaging Het
Tet2 T A 3: 133,193,721 (GRCm39) N238Y possibly damaging Het
Tiam2 T A 17: 3,487,540 (GRCm39) M687K probably damaging Het
Ticrr A G 7: 79,346,438 (GRCm39) E1866G probably benign Het
Ugt2b37 C T 5: 87,402,265 (GRCm39) G122D probably benign Het
Uqcrc2 A G 7: 120,237,111 (GRCm39) E53G probably damaging Het
Vcan T C 13: 89,852,071 (GRCm39) D963G probably damaging Het
Vmn2r24 T A 6: 123,764,226 (GRCm39) Y368N possibly damaging Het
Wdr5 A G 2: 27,418,323 (GRCm39) T208A probably benign Het
Zbtb18 A G 1: 177,275,936 (GRCm39) Y423C probably damaging Het
Zc3h6 A G 2: 128,839,696 (GRCm39) probably null Het
Other mutations in Tspan8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Tspan8 APN 10 115,680,044 (GRCm39) splice site probably benign
IGL01738:Tspan8 APN 10 115,653,570 (GRCm39) splice site probably null
IGL01755:Tspan8 APN 10 115,671,203 (GRCm39) missense probably damaging 1.00
IGL01993:Tspan8 APN 10 115,675,913 (GRCm39) splice site probably benign
IGL02369:Tspan8 APN 10 115,675,783 (GRCm39) missense probably benign 0.44
IGL02369:Tspan8 APN 10 115,675,782 (GRCm39) missense probably benign 0.01
BB001:Tspan8 UTSW 10 115,669,229 (GRCm39) critical splice donor site probably null
BB011:Tspan8 UTSW 10 115,669,229 (GRCm39) critical splice donor site probably null
PIT4131001:Tspan8 UTSW 10 115,653,515 (GRCm39) missense probably damaging 1.00
R1269:Tspan8 UTSW 10 115,685,287 (GRCm39) missense probably damaging 0.97
R1693:Tspan8 UTSW 10 115,679,949 (GRCm39) splice site probably benign
R1850:Tspan8 UTSW 10 115,669,130 (GRCm39) missense probably damaging 0.98
R1975:Tspan8 UTSW 10 115,680,035 (GRCm39) missense probably benign 0.00
R1976:Tspan8 UTSW 10 115,680,035 (GRCm39) missense probably benign 0.00
R1977:Tspan8 UTSW 10 115,680,035 (GRCm39) missense probably benign 0.00
R4058:Tspan8 UTSW 10 115,671,187 (GRCm39) nonsense probably null
R4059:Tspan8 UTSW 10 115,671,187 (GRCm39) nonsense probably null
R4999:Tspan8 UTSW 10 115,653,534 (GRCm39) missense possibly damaging 0.91
R6290:Tspan8 UTSW 10 115,663,729 (GRCm39) missense probably damaging 0.98
R6358:Tspan8 UTSW 10 115,669,132 (GRCm39) missense probably benign 0.12
R6524:Tspan8 UTSW 10 115,679,984 (GRCm39) missense probably benign
R7924:Tspan8 UTSW 10 115,669,229 (GRCm39) critical splice donor site probably null
R8139:Tspan8 UTSW 10 115,675,802 (GRCm39) missense probably benign 0.01
R9427:Tspan8 UTSW 10 115,669,213 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAGGACAATTCAAGGCTGGAAAC -3'
(R):5'- GTCCAAAACCTATGCCATAGTATCTTC -3'

Sequencing Primer
(F):5'- TCAGGAGGTGCCAACATTTC -3'
(R):5'- CCTATGCCATAGTATCTTCCATAAAC -3'
Posted On 2017-02-10