Incidental Mutation 'R8013:Tm4sf1'
ID 616983
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 067453-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R8013 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 57193032-57209409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57200319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 99 (I99V)
Ref Sequence ENSEMBL: ENSMUSP00000029376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029376] [ENSMUST00000171384] [ENSMUST00000196506] [ENSMUST00000196979]
AlphaFold Q64302
Predicted Effect probably benign
Transcript: ENSMUST00000029376
AA Change: I99V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000029376
Gene: ENSMUSG00000027800
AA Change: I99V

DomainStartEndE-ValueType
Pfam:L6_membrane 1 194 6e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171384
AA Change: I99V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000130999
Gene: ENSMUSG00000027800
AA Change: I99V

DomainStartEndE-ValueType
Pfam:L6_membrane 1 195 1.2e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196506
AA Change: I99V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143697
Gene: ENSMUSG00000027800
AA Change: I99V

DomainStartEndE-ValueType
Pfam:L6_membrane 1 137 3.5e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196979
AA Change: I99V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000143652
Gene: ENSMUSG00000027800
AA Change: I99V

DomainStartEndE-ValueType
Pfam:L6_membrane 1 194 6e-77 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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 antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik C A 15: 12,824,615 (GRCm39) D7Y probably benign Het
Ahnak A G 19: 8,986,699 (GRCm39) D2661G unknown Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Apob T A 12: 8,060,798 (GRCm39) N3093K possibly damaging Het
Baz2a C T 10: 127,961,157 (GRCm39) R1627C probably benign Het
Baz2a T G 10: 127,961,161 (GRCm39) V1628G possibly damaging Het
Bbs7 A T 3: 36,648,536 (GRCm39) I404K probably damaging Het
Cacna1g T C 11: 94,347,796 (GRCm39) Y764C probably damaging Het
Casr G A 16: 36,330,006 (GRCm39) L443F probably benign Het
Cfap43 T A 19: 47,761,548 (GRCm39) I849F probably damaging Het
Cntn3 A T 6: 102,176,278 (GRCm39) H812Q probably benign Het
Cog1 A G 11: 113,546,990 (GRCm39) D528G probably damaging Het
Depdc5 C T 5: 33,131,186 (GRCm39) T1229M probably benign Het
Dis3 T A 14: 99,314,835 (GRCm39) R954W possibly damaging Het
Disp2 T A 2: 118,620,163 (GRCm39) Y298* probably null Het
Dnai3 T C 3: 145,787,040 (GRCm39) T332A probably damaging Het
Dock2 A C 11: 34,596,677 (GRCm39) I393S probably damaging Het
Dtd1 A G 2: 144,459,252 (GRCm39) D92G probably damaging Het
Eef2 T A 10: 81,014,030 (GRCm39) V121D probably damaging Het
Eml1 T A 12: 108,487,938 (GRCm39) I550N probably benign Het
Entpd7 A G 19: 43,716,494 (GRCm39) D496G probably benign Het
Ets2 T A 16: 95,517,144 (GRCm39) L292Q probably damaging Het
Ext1 T C 15: 52,939,283 (GRCm39) I589V possibly damaging Het
Fam20a T A 11: 109,576,332 (GRCm39) E142D possibly damaging Het
Farp1 T A 14: 121,479,813 (GRCm39) I368N probably damaging Het
Fars2 C T 13: 36,389,068 (GRCm39) Q186* probably null Het
Fbn2 T C 18: 58,237,153 (GRCm39) T617A possibly damaging Het
Fbxo38 T C 18: 62,663,882 (GRCm39) E203G possibly damaging Het
Fcgbpl1 G A 7: 27,836,966 (GRCm39) R295H probably benign Het
Fhdc1 A T 3: 84,381,946 (GRCm39) M1K probably null Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gm28363 A G 1: 117,654,534 (GRCm39) R58G probably benign Het
Gm8356 A T 14: 17,692,450 (GRCm39) N58K probably damaging Het
Grsf1 A G 5: 88,823,615 (GRCm39) probably null Het
Hephl1 T A 9: 14,965,905 (GRCm39) D1016V possibly damaging Het
Hrob A G 11: 102,148,725 (GRCm39) N379D probably benign Het
Kcnma1 T A 14: 23,423,211 (GRCm39) I831F probably benign Het
Krt78 T C 15: 101,856,977 (GRCm39) R377G probably damaging Het
Lama2 T C 10: 27,220,494 (GRCm39) H457R probably benign Het
Lmnb1 T A 18: 56,841,431 (GRCm39) Y83N probably damaging Het
Loxl4 A G 19: 42,596,115 (GRCm39) C113R probably damaging Het
Lrba A T 3: 86,325,278 (GRCm39) D1912V probably damaging Het
Macf1 T A 4: 123,420,619 (GRCm39) T212S probably benign Het
Map3k4 A T 17: 12,489,918 (GRCm39) C504* probably null Het
Map4k4 T C 1: 40,001,372 (GRCm39) I53T unknown Het
Mtcl2 A G 2: 156,872,706 (GRCm39) probably null Het
Myo5b C T 18: 74,893,970 (GRCm39) Q1700* probably null Het
Npas2 T C 1: 39,377,146 (GRCm39) F503L probably benign Het
Nrg1 A T 8: 32,439,951 (GRCm39) S149T probably benign Het
Or13c7 T A 4: 43,854,958 (GRCm39) F216L probably benign Het
Or2ag15 C T 7: 106,340,824 (GRCm39) V106I probably benign Het
Or4a71 A G 2: 89,358,280 (GRCm39) V158A probably benign Het
Or9r7 T A 10: 129,962,647 (GRCm39) K93M probably damaging Het
Pdia6 T C 12: 17,323,966 (GRCm39) L66S probably damaging Het
Prss35 T C 9: 86,637,478 (GRCm39) S83P probably damaging Het
Psme4 G A 11: 30,754,320 (GRCm39) M192I probably benign Het
Ptprs A C 17: 56,742,994 (GRCm39) S383A probably damaging Het
Resf1 T G 6: 149,230,368 (GRCm39) V1138G probably damaging Het
Sar1b C T 11: 51,670,621 (GRCm39) P55L possibly damaging Het
Sgsh A G 11: 119,243,521 (GRCm39) V67A probably damaging Het
Slc16a4 A G 3: 107,218,794 (GRCm39) Y465C probably damaging Het
Stard9 T C 2: 120,518,582 (GRCm39) I502T probably damaging Het
Sugp2 T A 8: 70,704,292 (GRCm39) Y610N probably damaging Het
Tbc1d24 G A 17: 24,401,795 (GRCm39) P385S possibly damaging Het
Tpr G T 1: 150,274,359 (GRCm39) V163L probably benign Het
Usp31 T C 7: 121,248,480 (GRCm39) S988G probably damaging Het
Zbtb26 T A 2: 37,327,013 (GRCm39) probably null Het
Zfp536 T C 7: 37,269,035 (GRCm39) N127S probably damaging Het
Zfp750 T A 11: 121,403,843 (GRCm39) D344V possibly damaging Het
Zmym5 T A 14: 57,031,883 (GRCm39) K408N possibly 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
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
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'- GACTGCCCATCTAGCCTTACATAC -3'
(R):5'- AAGAGGACTGCTGTGGTTGC -3'

Sequencing Primer
(F):5'- GCCTTACATACTGCATGATTTGG -3'
(R):5'- GTTGCTGCGGCTACGAAAACTAC -3'
Posted On 2020-01-23