Incidental Mutation 'R4918:Tm4sf1'
ID 378385
Institutional Source Beutler Lab
Gene Symbol Tm4sf1
Ensembl Gene ENSMUSG00000027800
Gene Name transmembrane 4 superfamily member 1
Synonyms M3s1, L6, 12A8 target antigen, L6 antigen
MMRRC Submission 042520-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4918 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 57193032-57209409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57200448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 85 (G85S)
Ref Sequence ENSEMBL: ENSMUSP00000143652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029376] [ENSMUST00000171384] [ENSMUST00000196506] [ENSMUST00000196979]
AlphaFold Q64302
Predicted Effect probably damaging
Transcript: ENSMUST00000029376
AA Change: G85S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029376
Gene: ENSMUSG00000027800
AA Change: G85S

DomainStartEndE-ValueType
Pfam:L6_membrane 1 194 6e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171384
AA Change: G85S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130999
Gene: ENSMUSG00000027800
AA Change: G85S

DomainStartEndE-ValueType
Pfam:L6_membrane 1 195 1.2e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196506
AA Change: G85S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143697
Gene: ENSMUSG00000027800
AA Change: G85S

DomainStartEndE-ValueType
Pfam:L6_membrane 1 137 3.5e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196704
Predicted Effect probably damaging
Transcript: ENSMUST00000196979
AA Change: G85S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143652
Gene: ENSMUSG00000027800
AA Change: G85S

DomainStartEndE-ValueType
Pfam:L6_membrane 1 194 6e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198030
Meta Mutation Damage Score 0.5957 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (116/117)
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 antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,071,377 (GRCm39) I1492F probably damaging Het
Ago4 A C 4: 126,400,635 (GRCm39) C693G probably damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arfgef3 T A 10: 18,492,638 (GRCm39) I1258F probably damaging Het
Arhgef40 A G 14: 52,227,556 (GRCm39) E434G probably damaging Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A T 13: 100,191,713 (GRCm39) V1422E probably damaging Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bnip1 C T 17: 27,002,525 (GRCm39) probably benign Het
Bnip5 T G 17: 29,127,337 (GRCm39) Q224P probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Casp8 T C 1: 58,866,377 (GRCm39) F126S probably damaging Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cntnap2 T C 6: 46,506,969 (GRCm39) probably benign Het
Col9a1 T C 1: 24,276,339 (GRCm39) I749T possibly damaging Het
Ddx50 A T 10: 62,463,450 (GRCm39) C414* probably null Het
Defb42 A G 14: 63,285,790 (GRCm39) I57V probably benign Het
Dennd5a A G 7: 109,500,296 (GRCm39) F943S probably damaging Het
Dhx40 G T 11: 86,695,217 (GRCm39) H98N possibly damaging Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dpysl5 T G 5: 30,949,612 (GRCm39) F461V probably damaging Het
Efcab11 T C 12: 99,685,321 (GRCm39) D151G probably damaging Het
Egfem1 T C 3: 29,206,042 (GRCm39) V93A probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Esyt2 T C 12: 116,287,760 (GRCm39) V226A probably benign Het
Fan1 A T 7: 64,023,286 (GRCm39) probably benign Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fn1 A T 1: 71,634,968 (GRCm39) probably null Het
Fsip2 G A 2: 82,824,114 (GRCm39) V6616I possibly damaging Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gm10764 A G 10: 87,126,579 (GRCm39) noncoding transcript Het
Gm6788 C T 19: 28,740,664 (GRCm39) noncoding transcript Het
Gm8122 T C 14: 43,091,573 (GRCm39) N65S unknown Het
Golga4 C A 9: 118,387,213 (GRCm39) S1445Y probably damaging Het
Gsdmd A G 15: 75,736,241 (GRCm39) I123M probably benign Het
Hsf4 A G 8: 105,999,367 (GRCm39) E235G probably benign Het
Ifi206 T A 1: 173,309,610 (GRCm39) T129S possibly damaging Het
Jakmip1 G A 5: 37,248,619 (GRCm39) R93Q probably damaging Het
Kcnj1 T A 9: 32,308,056 (GRCm39) L160Q probably damaging Het
Kif1a T A 1: 93,002,700 (GRCm39) E233V probably benign Het
Krt5 A T 15: 101,618,742 (GRCm39) Y340N probably damaging Het
Krt90 T A 15: 101,470,914 (GRCm39) H116L possibly damaging Het
Large2 A G 2: 92,196,452 (GRCm39) probably benign Het
Marchf4 T G 1: 72,467,938 (GRCm39) S365R probably benign Het
Mei4 A G 9: 81,772,216 (GRCm39) T10A probably benign Het
Meis1 T C 11: 18,959,222 (GRCm39) probably benign Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mrps28 A G 3: 8,947,614 (GRCm39) probably benign Het
Ncdn G A 4: 126,643,731 (GRCm39) L364F possibly damaging Het
Nckap1l A G 15: 103,392,040 (GRCm39) N825S probably benign Het
Nfat5 T A 8: 108,051,284 (GRCm39) D47E probably damaging Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Nsf G A 11: 103,801,185 (GRCm39) probably benign Het
Or1b1 A T 2: 36,995,170 (GRCm39) I164N possibly damaging Het
Or1n1b A G 2: 36,780,344 (GRCm39) I172T probably damaging Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or51g2 A T 7: 102,622,614 (GRCm39) I195N possibly damaging Het
Or5ak20 C T 2: 85,183,632 (GRCm39) V213I probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Or5bw2 C T 7: 6,573,643 (GRCm39) L218F possibly damaging Het
Or9g10 T C 2: 85,584,465 (GRCm39) probably benign Het
Pcdh20 A C 14: 88,705,104 (GRCm39) L732R probably damaging Het
Pgbd5 C A 8: 125,097,305 (GRCm39) K408N probably benign Het
Pip4k2c T C 10: 127,035,196 (GRCm39) T391A possibly damaging Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Prpf18 T C 2: 4,641,981 (GRCm39) D186G probably benign Het
Rab3gap1 T A 1: 127,816,914 (GRCm39) W58R possibly damaging Het
Rbp3 T C 14: 33,677,368 (GRCm39) Y439H probably damaging Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rsf1 T C 7: 97,311,612 (GRCm39) S781P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A G 13: 11,609,872 (GRCm39) V753A probably damaging Het
Schip1 A T 3: 68,315,818 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Sh3rf3 A T 10: 58,842,925 (GRCm39) D297V probably damaging Het
Slc20a2 C T 8: 23,051,020 (GRCm39) S351L probably damaging Het
Slc35e2 C A 4: 155,700,693 (GRCm39) P272Q probably damaging Het
Slc4a1 A G 11: 102,243,279 (GRCm39) V784A probably damaging Het
Slco1b2 G A 6: 141,615,096 (GRCm39) V334I probably benign Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Spag6 A T 2: 18,750,360 (GRCm39) I469F probably benign Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Sulf1 A G 1: 12,888,720 (GRCm39) D335G probably damaging Het
Tchhl1 A G 3: 93,377,623 (GRCm39) D109G possibly damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Thsd7a A C 6: 12,327,558 (GRCm39) I1438S probably damaging Het
Tmem63a T A 1: 180,794,086 (GRCm39) I541N probably benign Het
Trav6d-4 T C 14: 52,991,240 (GRCm39) F95S probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttn T C 2: 76,589,598 (GRCm39) T21219A probably damaging Het
Unc80 T C 1: 66,685,709 (GRCm39) Y2278H possibly damaging Het
Usp8 A T 2: 126,562,060 (GRCm39) K85* probably null Het
Vmn2r69 T A 7: 85,055,967 (GRCm39) M724L probably benign Het
Zeb2 A G 2: 44,886,894 (GRCm39) I706T probably damaging Het
Zfp512 T C 5: 31,634,209 (GRCm39) S407P probably damaging Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L probably benign Het
Other mutations in Tm4sf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02004:Tm4sf1 APN 3 57,200,499 (GRCm39) missense possibly damaging 0.87
IGL03247:Tm4sf1 APN 3 57,200,436 (GRCm39) missense possibly damaging 0.70
IGL02988:Tm4sf1 UTSW 3 57,200,537 (GRCm39) splice site probably null
R0195:Tm4sf1 UTSW 3 57,200,480 (GRCm39) missense probably damaging 1.00
R1710:Tm4sf1 UTSW 3 57,200,304 (GRCm39) missense probably damaging 1.00
R4573:Tm4sf1 UTSW 3 57,202,206 (GRCm39) missense possibly damaging 0.78
R4801:Tm4sf1 UTSW 3 57,202,100 (GRCm39) missense probably damaging 1.00
R4802:Tm4sf1 UTSW 3 57,202,100 (GRCm39) missense probably damaging 1.00
R4917:Tm4sf1 UTSW 3 57,200,448 (GRCm39) missense probably damaging 1.00
R5127:Tm4sf1 UTSW 3 57,200,289 (GRCm39) missense possibly damaging 0.79
R5670:Tm4sf1 UTSW 3 57,200,508 (GRCm39) missense probably benign 0.03
R5946:Tm4sf1 UTSW 3 57,200,289 (GRCm39) missense possibly damaging 0.79
R6905:Tm4sf1 UTSW 3 57,202,330 (GRCm39) start gained probably benign
R7334:Tm4sf1 UTSW 3 57,200,510 (GRCm39) missense probably damaging 1.00
R7508:Tm4sf1 UTSW 3 57,202,176 (GRCm39) missense probably benign
R8013:Tm4sf1 UTSW 3 57,200,319 (GRCm39) missense probably benign 0.04
R8014:Tm4sf1 UTSW 3 57,200,319 (GRCm39) missense probably benign 0.04
R8024:Tm4sf1 UTSW 3 57,195,186 (GRCm39) nonsense probably null
R9264:Tm4sf1 UTSW 3 57,202,031 (GRCm39) critical splice donor site probably null
R9430:Tm4sf1 UTSW 3 57,197,214 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAGTGATGCCACAATGAC -3'
(R):5'- ATACTTGCGACTCTTCTTAGGC -3'

Sequencing Primer
(F):5'- GTGATGCCACAATGACACAGTAAGC -3'
(R):5'- TGGTTGACCTAATCAGAAGACATAG -3'
Posted On 2016-04-15