Incidental Mutation 'R6358:Tspan8'
ID 513347
Institutional Source Beutler Lab
Gene Symbol Tspan8
Ensembl Gene ENSMUSG00000034127
Gene Name tetraspanin 8
Synonyms Tm4sf3, E330007O21Rik
MMRRC Submission 044508-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6358 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 115652737-115685798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115669132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 56 (V56L)
Ref Sequence ENSEMBL: ENSMUSP00000136645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035563] [ENSMUST00000080630] [ENSMUST00000179196] [ENSMUST00000217900]
AlphaFold Q8R3G9
Predicted Effect probably benign
Transcript: ENSMUST00000035563
AA Change: V56L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: V56L

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 4.8e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080630
AA Change: V56L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: V56L

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 8.3e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179196
AA Change: V56L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: V56L

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 8.3e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217900
AA Change: V56L

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220081
Meta Mutation Damage Score 0.3567 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,279,718 (GRCm39) V703A probably benign Het
Adgrv1 T A 13: 81,562,702 (GRCm39) Q5389L probably damaging Het
Aldh18a1 A T 19: 40,566,122 (GRCm39) I42N possibly damaging Het
Ankrd28 A C 14: 31,432,821 (GRCm39) C575W probably damaging Het
Car14 T A 3: 95,805,487 (GRCm39) T329S possibly damaging Het
Cdhr2 T C 13: 54,884,359 (GRCm39) F1298S probably damaging Het
Crhr2 A G 6: 55,070,028 (GRCm39) I341T probably benign Het
D5Ertd579e T A 5: 36,773,580 (GRCm39) probably null Het
Eif1ad3 A G 12: 87,843,770 (GRCm39) E139G unknown Het
Emilin1 A G 5: 31,075,562 (GRCm39) E601G probably damaging Het
Erbin T A 13: 103,982,073 (GRCm39) Q456L probably damaging Het
Glp1r T C 17: 31,151,618 (GRCm39) V405A probably benign Het
Gm10220 C G 5: 26,325,303 (GRCm39) probably null Het
Gm527 A T 12: 64,970,322 (GRCm39) H219L possibly damaging Het
Gorasp2 T A 2: 70,503,104 (GRCm39) M1K probably null Het
H2-DMa T A 17: 34,356,958 (GRCm39) L152H probably damaging Het
Hsd3b7 T A 7: 127,400,709 (GRCm39) H54Q probably damaging Het
Hspa12b T C 2: 130,978,986 (GRCm39) probably benign Het
Iars1 C A 13: 49,880,619 (GRCm39) T1006K possibly damaging Het
Jmjd1c T C 10: 67,061,718 (GRCm39) V1357A probably benign Het
Magi3 T C 3: 103,958,268 (GRCm39) M606V probably damaging Het
Mia T C 7: 26,880,403 (GRCm39) D24G probably benign Het
Mon2 A T 10: 122,849,409 (GRCm39) L1297Q probably damaging Het
Musk T A 4: 58,373,171 (GRCm39) S691T possibly damaging Het
Myo5c A T 9: 75,203,294 (GRCm39) E1463D possibly damaging Het
Ndufs6 C T 13: 73,468,438 (GRCm39) G87D probably damaging Het
Npnt C T 3: 132,610,479 (GRCm39) V415I probably benign Het
Ntsr2 A G 12: 16,706,769 (GRCm39) I266V probably benign Het
Or11j4 A T 14: 50,630,845 (GRCm39) I211F possibly damaging Het
Or5aq7 T C 2: 86,938,778 (GRCm39) probably benign Het
Pkmyt1 T A 17: 23,952,630 (GRCm39) probably null Het
Polr1e T C 4: 45,026,813 (GRCm39) L166P probably damaging Het
Ppib T G 9: 65,968,756 (GRCm39) F48C probably damaging Het
Ppl C A 16: 4,905,793 (GRCm39) E1501* probably null Het
Prpf8 T C 11: 75,382,321 (GRCm39) V384A probably benign Het
Ptch1 T G 13: 63,661,503 (GRCm39) S1212R probably damaging Het
Ralb C A 1: 119,403,735 (GRCm39) D131Y probably damaging Het
Rfx4 T A 10: 84,680,099 (GRCm39) M141K probably damaging Het
Rgl2 T A 17: 34,156,105 (GRCm39) probably null Het
Rpl27 A G 11: 101,334,782 (GRCm39) probably benign Het
Sdc1 A C 12: 8,841,297 (GRCm39) T213P probably damaging Het
Setx T A 2: 29,061,360 (GRCm39) N2256K possibly damaging Het
Shank2 A G 7: 143,585,034 (GRCm39) M12V probably benign Het
Slc22a28 T A 19: 8,049,253 (GRCm39) K332M probably damaging Het
Slf2 A T 19: 44,923,864 (GRCm39) H226L probably benign Het
Tbc1d10b T C 7: 126,802,584 (GRCm39) S362G probably benign Het
Tbxas1 G A 6: 38,929,046 (GRCm39) probably benign Het
Tctn1 A G 5: 122,399,575 (GRCm39) V83A probably damaging Het
Tgm4 A G 9: 122,885,583 (GRCm39) E375G probably damaging Het
Tmeff2 T A 1: 51,172,273 (GRCm39) Y247* probably null Het
Tmem167b C T 3: 108,466,211 (GRCm39) R79H possibly damaging Het
Tmprss7 T G 16: 45,489,936 (GRCm39) M429L probably benign Het
Tnfsf18 T A 1: 161,331,148 (GRCm39) D99E probably benign Het
Tnrc18 A T 5: 142,713,736 (GRCm39) S2534T probably damaging Het
Tnxb A G 17: 34,897,968 (GRCm39) E872G probably damaging Het
Tomm40l C T 1: 171,047,206 (GRCm39) V237I possibly damaging Het
Trbv2 A G 6: 41,024,836 (GRCm39) Q84R probably benign Het
Tspan18 T C 2: 93,040,219 (GRCm39) R179G probably benign Het
Zbtb22 T C 17: 34,137,711 (GRCm39) S619P probably damaging Het
Zfp2 A T 11: 50,791,428 (GRCm39) I205N probably damaging Het
Zfpm1 A G 8: 123,063,850 (GRCm39) probably benign 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
R5879:Tspan8 UTSW 10 115,669,156 (GRCm39) missense possibly damaging 0.89
R6290:Tspan8 UTSW 10 115,663,729 (GRCm39) missense probably damaging 0.98
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'- CATTAAGCTTGGCAAGGACAAG -3'

Sequencing Primer
(F):5'- TCAGGAGGTGCCAACATTTC -3'
(R):5'- CTTGGCAAGGACAAGTCTTGTGAC -3'
Posted On 2018-04-27