Incidental Mutation 'R6290:Tspan8'
ID 508378
Institutional Source Beutler Lab
Gene Symbol Tspan8
Ensembl Gene ENSMUSG00000034127
Gene Name tetraspanin 8
Synonyms Tm4sf3, E330007O21Rik
MMRRC Submission 044460-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6290 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 115652737-115685798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115663729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 22 (C22S)
Ref Sequence ENSEMBL: ENSMUSP00000136645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035563] [ENSMUST00000080630] [ENSMUST00000179196] [ENSMUST00000217900]
AlphaFold Q8R3G9
Predicted Effect probably damaging
Transcript: ENSMUST00000035563
AA Change: C22S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049243
Gene: ENSMUSG00000034127
AA Change: C22S

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 4.8e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080630
AA Change: C22S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079463
Gene: ENSMUSG00000034127
AA Change: C22S

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 8.3e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179196
AA Change: C22S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136645
Gene: ENSMUSG00000034127
AA Change: C22S

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 232 8.3e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000217900
AA Change: C22S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220081
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 T A 1: 173,289,681 (GRCm39) I208N possibly damaging Het
Albfm1 T C 5: 90,740,864 (GRCm39) probably null Het
Ank3 A C 10: 69,827,198 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,259,036 (GRCm39) E687G possibly damaging Het
Ash1l T A 3: 88,890,068 (GRCm39) L649* probably null Het
Atp7b C T 8: 22,510,836 (GRCm39) G437S probably damaging Het
Cep89 G A 7: 35,119,688 (GRCm39) G349D probably damaging Het
Cntn6 T A 6: 104,744,851 (GRCm39) Y315N probably damaging Het
Cspg4b A T 13: 113,456,492 (GRCm39) N846I probably damaging Het
Csrp2 T C 10: 110,767,844 (GRCm39) C10R probably damaging Het
Cux1 T C 5: 136,340,412 (GRCm39) N625D probably damaging Het
Dnah9 T C 11: 65,732,201 (GRCm39) N4235S probably damaging Het
Dpy19l1 A G 9: 24,373,896 (GRCm39) C265R probably damaging Het
Dse A G 10: 34,028,336 (GRCm39) M918T probably benign Het
Duox1 C A 2: 122,164,288 (GRCm39) T916N possibly damaging Het
E130308A19Rik A T 4: 59,691,332 (GRCm39) I389F probably benign Het
Eif2ak1 T A 5: 143,821,617 (GRCm39) V311D probably benign Het
Eps15 T A 4: 109,220,395 (GRCm39) M534K probably benign Het
Gpr182 A T 10: 127,586,893 (GRCm39) F19L probably benign Het
Ifi214 T A 1: 173,356,983 (GRCm39) D40V probably damaging Het
Klhl2 A G 8: 65,264,351 (GRCm39) V121A possibly damaging Het
Klrh1 A G 6: 129,743,658 (GRCm39) Y209H probably benign Het
Mylk T A 16: 34,715,213 (GRCm39) S514T probably benign Het
Myo18b C T 5: 113,013,601 (GRCm39) R785H possibly damaging Het
Naga T G 15: 82,219,057 (GRCm39) D230A possibly damaging Het
Napsa A G 7: 44,230,761 (GRCm39) N70D probably benign Het
Nup210l T A 3: 90,027,216 (GRCm39) Y199* probably null Het
Olfml2b A T 1: 170,477,359 (GRCm39) K165* probably null Het
Or1j20 C T 2: 36,760,448 (GRCm39) P290L probably damaging Het
Paxip1 A T 5: 27,970,576 (GRCm39) probably null Het
Pcyox1 T A 6: 86,365,881 (GRCm39) K444N probably benign Het
Pikfyve T A 1: 65,242,084 (GRCm39) probably null Het
Ppp6r3 T C 19: 3,544,011 (GRCm39) I335V probably benign Het
Prkcz A G 4: 155,440,956 (GRCm39) S71P probably damaging Het
Psg19 C T 7: 18,528,014 (GRCm39) R243Q probably benign Het
Ptbp2 A T 3: 119,517,769 (GRCm39) M382K possibly damaging Het
Slc16a14 T A 1: 84,885,106 (GRCm39) I478L probably benign Het
Slc45a1 A T 4: 150,727,096 (GRCm39) N174K probably damaging Het
Slc5a5 G A 8: 71,343,822 (GRCm39) T160I probably damaging Het
Smpdl3b T A 4: 132,465,586 (GRCm39) H278L possibly damaging Het
Sorcs2 C T 5: 36,219,931 (GRCm39) R371H probably damaging Het
Synpo2 A T 3: 122,910,701 (GRCm39) S315T probably damaging Het
Taok3 A G 5: 117,342,433 (GRCm39) Y137C probably damaging Het
Tapbpl T C 6: 125,207,679 (GRCm39) D49G probably benign Het
Tbr1 T C 2: 61,635,394 (GRCm39) S115P probably benign Het
Trim67 C T 8: 125,549,918 (GRCm39) T516I probably benign Het
Trrap T A 5: 144,741,828 (GRCm39) L1351Q probably damaging Het
Tsc2 A G 17: 24,815,884 (GRCm39) I166T probably benign Het
Tyro3 T C 2: 119,647,321 (GRCm39) S813P probably benign Het
U2af2 G T 7: 5,078,683 (GRCm39) V421L probably benign Het
Vmn1r77 T C 7: 11,775,736 (GRCm39) S103P probably damaging Het
Vmn2r1 T A 3: 64,012,873 (GRCm39) D911E probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Vmn2r56 A T 7: 12,428,809 (GRCm39) C486S probably damaging Het
Vwa8 A G 14: 79,331,772 (GRCm39) probably null Het
Xirp1 T G 9: 119,847,791 (GRCm39) E364A probably benign Het
Zbp1 T C 2: 173,057,634 (GRCm39) E99G probably damaging Het
Zfp385b C A 2: 77,280,612 (GRCm39) V109F possibly damaging 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
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'- AATGGACTGTGATTCTTACCAGTCG -3'
(R):5'- AACTCTCCAGAAGGACGGTG -3'

Sequencing Primer
(F):5'- ACCAGTCGTATCCTGCTGTG -3'
(R):5'- TCCAGAAGGACGGTGCCATG -3'
Posted On 2018-03-15