Incidental Mutation 'R6905:Tm4sf1'
ID 538724
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 044997-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6905 (G1)
Quality Score 202.009
Status Validated
Chromosome 3
Chromosomal Location 57193032-57209409 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 57202330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029376] [ENSMUST00000171384] [ENSMUST00000196506] [ENSMUST00000196979]
AlphaFold Q64302
Predicted Effect probably benign
Transcript: ENSMUST00000029376
SMART Domains Protein: ENSMUSP00000029376
Gene: ENSMUSG00000027800

DomainStartEndE-ValueType
Pfam:L6_membrane 1 194 6e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171384
SMART Domains Protein: ENSMUSP00000130999
Gene: ENSMUSG00000027800

DomainStartEndE-ValueType
Pfam:L6_membrane 1 195 1.2e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196506
SMART Domains Protein: ENSMUSP00000143697
Gene: ENSMUSG00000027800

DomainStartEndE-ValueType
Pfam:L6_membrane 1 137 3.5e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196979
SMART Domains Protein: ENSMUSP00000143652
Gene: ENSMUSG00000027800

DomainStartEndE-ValueType
Pfam:L6_membrane 1 194 6e-77 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik G T 1: 151,856,189 (GRCm39) N59K probably damaging Het
Abi3bp A G 16: 56,394,880 (GRCm39) D196G probably damaging Het
Ankrd44 A G 1: 54,831,653 (GRCm39) F50S probably damaging Het
Arid4a C T 12: 71,108,318 (GRCm39) A41V probably benign Het
Cdk11b A T 4: 155,726,065 (GRCm39) probably benign Het
Chrm5 C A 2: 112,309,901 (GRCm39) C405F probably benign Het
Cimip2a A G 2: 25,110,491 (GRCm39) I100V probably benign Het
Col6a4 A T 9: 105,937,517 (GRCm39) probably null Het
Copb1 A C 7: 113,853,125 (GRCm39) I24S probably benign Het
Ctsh A T 9: 89,944,819 (GRCm39) K83N probably damaging Het
Dgkd A G 1: 87,863,097 (GRCm39) E48G probably damaging Het
Dis3l2 A G 1: 86,972,561 (GRCm39) T657A probably benign Het
Flrt1 T A 19: 7,072,757 (GRCm39) K597* probably null Het
Ifit1bl2 T C 19: 34,596,990 (GRCm39) S209G possibly damaging Het
Ifrd2 T C 9: 107,465,089 (GRCm39) M1T probably null Het
Ighv8-12 T C 12: 115,611,705 (GRCm39) Y73C probably benign Het
Klhl21 C A 4: 152,094,184 (GRCm39) A262E probably benign Het
L3mbtl4 A T 17: 69,084,883 (GRCm39) Y598F probably benign Het
Lad1 A G 1: 135,755,618 (GRCm39) K298R probably benign Het
Map2k2 A G 10: 80,944,701 (GRCm39) D71G probably damaging Het
Megf8 T A 7: 25,037,357 (GRCm39) H752Q probably benign Het
Mms22l A T 4: 24,503,107 (GRCm39) M200L probably benign Het
Mup5 C A 4: 61,751,340 (GRCm39) D103Y possibly damaging Het
Nes C T 3: 87,885,985 (GRCm39) P1371S probably damaging Het
Or4c10b A T 2: 89,712,052 (GRCm39) D294V probably benign Het
Or4f14c A T 2: 111,940,703 (GRCm39) M298K probably damaging Het
Or52z14 A T 7: 103,253,574 (GRCm39) T238S probably benign Het
Osbpl3 T C 6: 50,328,862 (GRCm39) I114V probably damaging Het
Pank3 T C 11: 35,667,239 (GRCm39) Y119H probably benign Het
Pcdhb15 C T 18: 37,607,748 (GRCm39) L327F possibly damaging Het
Pnpla8 T C 12: 44,330,336 (GRCm39) V78A probably damaging Het
Rbm14 A G 19: 4,853,264 (GRCm39) probably benign Het
Rev3l G A 10: 39,693,323 (GRCm39) V468M probably benign Het
Ripk1 A G 13: 34,211,973 (GRCm39) I428V probably benign Het
Rps5 T C 7: 12,659,785 (GRCm39) V147A probably damaging Het
Rps6ka2 T A 17: 7,495,340 (GRCm39) I9N probably damaging Het
Samd9l A T 6: 3,375,387 (GRCm39) F625I probably damaging Het
Sh3bp1 A G 15: 78,789,230 (GRCm39) D196G probably benign Het
Slc66a1 A G 4: 139,033,752 (GRCm39) probably null Het
Smg7 A T 1: 152,725,757 (GRCm39) probably null Het
Stap1 G A 5: 86,238,781 (GRCm39) E150K possibly damaging Het
Ticrr T C 7: 79,315,598 (GRCm39) I284T probably benign Het
Traf4 C T 11: 78,051,268 (GRCm39) R296Q probably benign Het
Trav7d-4 G T 14: 53,007,770 (GRCm39) A88S possibly damaging Het
Vwde T C 6: 13,205,926 (GRCm39) E207G probably damaging 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
R4918: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
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'- TAGCTACGATGCAGAAGACAGC -3'
(R):5'- CCTGTGAGCAAGCGGTATAGTG -3'

Sequencing Primer
(F):5'- GATGCAGAAGACAGCAGCCC -3'
(R):5'- GCAAGCGGTATAGTGGATTAGTC -3'
Posted On 2018-11-06