Incidental Mutation 'R1848:Tspan31'
ID 207923
Institutional Source Beutler Lab
Gene Symbol Tspan31
Ensembl Gene ENSMUSG00000006736
Gene Name tetraspanin 31
Synonyms 2700085A14Rik, Tspan31, Sas
MMRRC Submission 039873-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # R1848 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127067280-127070264 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127069458 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 40 (V40A)
Ref Sequence ENSEMBL: ENSMUSP00000057751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006911] [ENSMUST00000060991] [ENSMUST00000120226] [ENSMUST00000125682] [ENSMUST00000133115] [ENSMUST00000142558]
AlphaFold Q9CQ88
Predicted Effect probably benign
Transcript: ENSMUST00000006911
SMART Domains Protein: ENSMUSP00000006911
Gene: ENSMUSG00000006728

S_TKc 6 295 9.2e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000060991
AA Change: V40A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057751
Gene: ENSMUSG00000006736
AA Change: V40A

Pfam:Tetraspannin 8 200 1.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120226
SMART Domains Protein: ENSMUSP00000112549
Gene: ENSMUSG00000006728

Pfam:Pkinase 6 103 6e-10 PFAM
low complexity region 121 138 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123456
Predicted Effect probably benign
Transcript: ENSMUST00000125682
SMART Domains Protein: ENSMUSP00000117234
Gene: ENSMUSG00000006728

S_TKc 6 261 5.19e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133115
SMART Domains Protein: ENSMUSP00000122973
Gene: ENSMUSG00000006728

S_TKc 6 250 1.55e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140254
Predicted Effect probably benign
Transcript: ENSMUST00000142558
SMART Domains Protein: ENSMUSP00000116190
Gene: ENSMUSG00000006728

Pfam:Pkinase 6 74 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218603
Meta Mutation Damage Score 0.3549 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
Validation Efficiency 98% (120/123)
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 thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C A 8: 87,568,493 (GRCm38) Y86* probably null Het
Aadac A G 3: 60,039,697 (GRCm38) E272G probably damaging Het
Abcc8 A T 7: 46,166,902 (GRCm38) D271E probably benign Het
Acan T C 7: 79,099,035 (GRCm38) F1185L probably benign Het
Adam1a A T 5: 121,519,620 (GRCm38) C537S probably damaging Het
Ago2 A G 15: 73,123,965 (GRCm38) V395A probably benign Het
Alox15 A G 11: 70,350,752 (GRCm38) V101A probably damaging Het
Ankra2 T C 13: 98,271,124 (GRCm38) I194T probably damaging Het
Apobec4 C A 1: 152,756,230 (GRCm38) P3H probably damaging Het
Arid3b G T 9: 57,796,677 (GRCm38) Y329* probably null Het
Atm A T 9: 53,468,012 (GRCm38) S1993T probably benign Het
Bpgm T G 6: 34,487,734 (GRCm38) S129A probably benign Het
Brat1 A G 5: 140,718,509 (GRCm38) D839G possibly damaging Het
Ccdc15 A T 9: 37,342,570 (GRCm38) S128T probably benign Het
Cd300lg A T 11: 102,046,206 (GRCm38) probably benign Het
Cdc34b C A 11: 94,742,477 (GRCm38) Q168K probably damaging Het
Celsr2 A T 3: 108,401,310 (GRCm38) V1767E probably benign Het
Cep350 T C 1: 155,953,651 (GRCm38) D169G probably benign Het
Col7a1 A T 9: 108,969,565 (GRCm38) D1762V possibly damaging Het
Coro7 A G 16: 4,630,434 (GRCm38) L724P probably damaging Het
Crb1 T A 1: 139,237,012 (GRCm38) I1125F probably damaging Het
Ctif T A 18: 75,519,941 (GRCm38) D415V probably damaging Het
Dab1 C T 4: 104,731,751 (GRCm38) A524V probably benign Het
Dhrs2 A G 14: 55,240,841 (GRCm38) D237G probably benign Het
Dhx9 T C 1: 153,465,753 (GRCm38) Q582R probably damaging Het
Dnajc1 C T 2: 18,219,713 (GRCm38) R443Q probably damaging Het
Dnm2 C T 9: 21,505,681 (GRCm38) R837W possibly damaging Het
Dpf2 C A 19: 5,906,615 (GRCm38) Q70H probably damaging Het
Dqx1 T A 6: 83,066,107 (GRCm38) D608E probably damaging Het
Dync2h1 T A 9: 7,049,166 (GRCm38) T3245S probably benign Het
Ect2l A G 10: 18,200,033 (GRCm38) L35P probably damaging Het
Efcab5 A T 11: 77,103,306 (GRCm38) L1285Q probably damaging Het
Eif4g1 G C 16: 20,681,867 (GRCm38) R697P probably damaging Het
Emsy T A 7: 98,600,821 (GRCm38) E753V probably damaging Het
Entpd3 A G 9: 120,558,419 (GRCm38) I227M probably damaging Het
Epn1 T A 7: 5,089,998 (GRCm38) V103E probably damaging Het
Esrra T C 19: 6,912,010 (GRCm38) D337G probably benign Het
Fam83e A T 7: 45,728,769 (GRCm38) K406* probably null Het
Fam83e A T 7: 45,728,770 (GRCm38) K406M possibly damaging Het
Fat2 A G 11: 55,311,558 (GRCm38) I230T probably damaging Het
Fbxl16 A G 17: 25,816,446 (GRCm38) I6V probably benign Het
Fgf23 T C 6: 127,073,193 (GRCm38) I55T probably damaging Het
Fibcd1 T A 2: 31,821,549 (GRCm38) D288V probably damaging Het
Flnb T C 14: 7,892,113 (GRCm38) I594T probably damaging Het
Gabbr2 T C 4: 46,739,823 (GRCm38) E449G probably benign Het
Gbf1 T G 19: 46,272,037 (GRCm38) S1130A possibly damaging Het
Gipc3 T C 10: 81,341,265 (GRCm38) E157G probably damaging Het
Glra3 G T 8: 55,940,907 (GRCm38) A18S probably benign Het
Gm6625 A C 8: 89,146,834 (GRCm38) noncoding transcript Het
Gpx4 A G 10: 80,056,036 (GRCm38) probably benign Het
Grb10 A G 11: 11,946,029 (GRCm38) F264L possibly damaging Het
Grik3 T C 4: 125,694,138 (GRCm38) Y684H probably damaging Het
Gstp1 C T 19: 4,036,795 (GRCm38) probably benign Het
Haus8 G A 8: 71,256,123 (GRCm38) probably benign Het
Hip1 G A 5: 135,435,141 (GRCm38) probably null Het
Hist3h2ba A T 11: 58,949,102 (GRCm38) I55F possibly damaging Het
Hspbap1 T A 16: 35,818,764 (GRCm38) probably null Het
Htr2b T A 1: 86,099,429 (GRCm38) I452F possibly damaging Het
Hydin T A 8: 110,569,808 (GRCm38) H3656Q probably benign Het
Klb T A 5: 65,348,837 (GRCm38) D142E probably benign Het
Lamb3 A T 1: 193,334,616 (GRCm38) T777S possibly damaging Het
Lins1 C A 7: 66,714,322 (GRCm38) T650K probably damaging Het
Loxhd1 A G 18: 77,281,971 (GRCm38) K5R possibly damaging Het
Lpp G A 16: 24,761,655 (GRCm38) M40I probably damaging Het
Mia2 A T 12: 59,170,251 (GRCm38) probably benign Het
Miip A C 4: 147,863,092 (GRCm38) F204V probably damaging Het
Mmp21 T C 7: 133,677,153 (GRCm38) R323G probably benign Het
Mta3 T A 17: 83,755,551 (GRCm38) probably benign Het
Myh1 A G 11: 67,213,630 (GRCm38) K1004R probably benign Het
Myh14 T A 7: 44,632,429 (GRCm38) I810F probably damaging Het
Nbas A C 12: 13,413,597 (GRCm38) D1295A probably damaging Het
Niban3 T C 8: 71,603,769 (GRCm38) M371T possibly damaging Het
Npr2 T G 4: 43,632,384 (GRCm38) V67G probably benign Het
Oas1f C A 5: 120,855,429 (GRCm38) Q235K probably damaging Het
Or12d17 T A 17: 37,467,047 (GRCm38) S280R probably damaging Het
Or13a27 T A 7: 140,345,987 (GRCm38) M1L probably benign Het
Or1p1 G T 11: 74,289,213 (GRCm38) C189F probably damaging Het
Or52ae9 T C 7: 103,741,174 (GRCm38) N22S probably benign Het
Or7e166 C T 9: 19,713,090 (GRCm38) H88Y probably benign Het
Pafah2 GCCCC GCCCCC 4: 134,425,541 (GRCm38) probably null Het
Pde1b A G 15: 103,525,340 (GRCm38) probably null Het
Pdilt T C 7: 119,489,384 (GRCm38) T465A probably benign Het
Plxnd1 T C 6: 115,966,546 (GRCm38) H1233R probably damaging Het
Ppm1b T A 17: 84,994,124 (GRCm38) M144K probably benign Het
Prkdc T C 16: 15,808,058 (GRCm38) L3316S probably benign Het
Prm2 T A 16: 10,791,591 (GRCm38) probably benign Het
Prmt7 T C 8: 106,237,008 (GRCm38) V240A probably benign Het
Prx C A 7: 27,518,888 (GRCm38) A938E possibly damaging Het
Rbm7 A G 9: 48,490,894 (GRCm38) V131A probably benign Het
Ric1 T A 19: 29,600,813 (GRCm38) probably null Het
Rnf150 A T 8: 82,864,010 (GRCm38) M1L possibly damaging Het
Rnf20 C T 4: 49,644,628 (GRCm38) R298W probably damaging Het
Rp1 T A 1: 4,347,232 (GRCm38) Y1219F possibly damaging Het
Scn7a A G 2: 66,684,013 (GRCm38) probably null Het
Sdad1 A G 5: 92,292,651 (GRCm38) probably null Het
Septin9 T C 11: 117,353,083 (GRCm38) probably benign Het
Serinc3 T C 2: 163,645,489 (GRCm38) probably benign Het
Shc3 C T 13: 51,461,388 (GRCm38) G178R probably damaging Het
Slc4a10 A T 2: 62,316,606 (GRCm38) K1090M probably damaging Het
Slco1a1 T C 6: 141,923,111 (GRCm38) I376V probably benign Het
Slmap A T 14: 26,422,574 (GRCm38) F719L probably benign Het
Smgc A G 15: 91,859,758 (GRCm38) N573D possibly damaging Het
Spx G A 6: 142,414,079 (GRCm38) probably null Het
Srrt C G 5: 137,296,945 (GRCm38) E308Q probably damaging Het
Tas2r130 T A 6: 131,630,597 (GRCm38) R78S probably benign Het
Tchhl1 A G 3: 93,471,101 (GRCm38) R371G probably damaging Het
Teddm2 C T 1: 153,850,448 (GRCm38) A174T probably benign Het
Tktl2 G A 8: 66,512,347 (GRCm38) V186M probably damaging Het
Trim33 T C 3: 103,324,640 (GRCm38) probably benign Het
Uevld A G 7: 46,945,227 (GRCm38) probably benign Het
Vcl G T 14: 21,008,995 (GRCm38) A560S probably benign Het
Vmn2r24 T A 6: 123,816,224 (GRCm38) C837S probably damaging Het
Vmn2r57 C T 7: 41,428,107 (GRCm38) V212M probably damaging Het
Vps13c A G 9: 67,936,340 (GRCm38) T1968A probably benign Het
Vtn A G 11: 78,500,567 (GRCm38) R269G probably damaging Het
Wdcp G A 12: 4,850,245 (GRCm38) V34I possibly damaging Het
Zc3h14 A G 12: 98,752,832 (GRCm38) D152G possibly damaging Het
Zfp189 C T 4: 49,529,266 (GRCm38) P123L probably benign Het
Zfp318 T C 17: 46,406,055 (GRCm38) S1038P possibly damaging Het
Zfp873 A G 10: 82,060,572 (GRCm38) D416G probably benign Het
Other mutations in Tspan31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02926:Tspan31 APN 10 127,068,909 (GRCm38) splice site probably null
R0989:Tspan31 UTSW 10 127,068,327 (GRCm38) missense probably damaging 0.97
R2104:Tspan31 UTSW 10 127,068,135 (GRCm38) missense probably damaging 1.00
R2327:Tspan31 UTSW 10 127,068,496 (GRCm38) missense probably benign 0.02
R3424:Tspan31 UTSW 10 127,068,502 (GRCm38) missense probably benign
R6450:Tspan31 UTSW 10 127,068,358 (GRCm38) missense probably damaging 1.00
R7204:Tspan31 UTSW 10 127,068,118 (GRCm38) makesense probably null
R9033:Tspan31 UTSW 10 127,068,480 (GRCm38) unclassified probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-06-23