Incidental Mutation 'R7508:Tm4sf1'
ID 581881
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 045581-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R7508 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 57193032-57209409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57202176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 12 (Y12H)
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: Y12H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029376
Gene: ENSMUSG00000027800
AA Change: Y12H

DomainStartEndE-ValueType
Pfam:L6_membrane 1 194 6e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171384
AA Change: Y12H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130999
Gene: ENSMUSG00000027800
AA Change: Y12H

DomainStartEndE-ValueType
Pfam:L6_membrane 1 195 1.2e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196506
AA Change: Y12H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143697
Gene: ENSMUSG00000027800
AA Change: Y12H

DomainStartEndE-ValueType
Pfam:L6_membrane 1 137 3.5e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196979
AA Change: Y12H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143652
Gene: ENSMUSG00000027800
AA Change: Y12H

DomainStartEndE-ValueType
Pfam:L6_membrane 1 194 6e-77 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 C T 5: 50,174,209 (GRCm39) A110T probably benign Het
Adra1a A C 14: 66,875,384 (GRCm39) I120L probably damaging Het
Ahnak2 C T 12: 112,740,839 (GRCm39) V1078I possibly damaging Het
Ccser1 A G 6: 61,547,707 (GRCm39) H590R probably benign Het
Cdh12 T G 15: 21,583,851 (GRCm39) L564V probably benign Het
Celsr3 T A 9: 108,713,821 (GRCm39) H1900Q probably benign Het
Clasp1 T A 1: 118,473,164 (GRCm39) M918K probably benign Het
Cmtm6 A G 9: 114,560,308 (GRCm39) E2G probably damaging Het
Ctsg A G 14: 56,337,998 (GRCm39) probably null Het
Cylc2 T A 4: 51,229,256 (GRCm39) probably null Het
Dna2 A G 10: 62,807,772 (GRCm39) probably null Het
Dnai1 G A 4: 41,614,323 (GRCm39) R333H probably benign Het
Egln3 T C 12: 54,227,414 (GRCm39) D239G probably benign Het
Eif1ad12 T C 12: 87,541,612 (GRCm39) M41T possibly damaging Het
Fam13a A T 6: 58,964,269 (GRCm39) D54E probably damaging Het
Fn1 A G 1: 71,636,675 (GRCm39) V2159A probably benign Het
Gcnt2 T A 13: 41,041,157 (GRCm39) F105L probably benign Het
Gpd1 G A 15: 99,619,967 (GRCm39) S255N probably damaging Het
Hacd4 A G 4: 88,355,715 (GRCm39) F57L probably benign Het
Helb T C 10: 119,941,188 (GRCm39) D500G probably benign Het
Ighv1-26 G A 12: 114,752,062 (GRCm39) S94F probably damaging Het
Kirrel1 T C 3: 86,990,746 (GRCm39) D692G possibly damaging Het
Klra7 A T 6: 130,207,054 (GRCm39) probably null Het
Lyl1 T C 8: 85,430,929 (GRCm39) V277A probably benign Het
Mon2 A C 10: 122,859,844 (GRCm39) W811G probably damaging Het
Myo9b T C 8: 71,807,445 (GRCm39) L1627P probably benign Het
Neurl1b C G 17: 26,657,720 (GRCm39) H219Q probably benign Het
Odf4 A T 11: 68,813,249 (GRCm39) C218S possibly damaging Het
Or2b6 T A 13: 21,822,779 (GRCm39) I305F probably benign Het
Or8u3-ps A G 2: 85,952,282 (GRCm39) N5S possibly damaging Het
Pde5a A G 3: 122,611,679 (GRCm39) D571G probably damaging Het
Pgc A G 17: 48,045,111 (GRCm39) E343G probably benign Het
Pik3cd A G 4: 149,739,040 (GRCm39) F667L possibly damaging Het
Prf1 G A 10: 61,135,934 (GRCm39) R70H possibly damaging Het
Ptprb C T 10: 116,189,896 (GRCm39) Q1565* probably null Het
Rapgef4 T A 2: 72,036,077 (GRCm39) N523K probably benign Het
Rbm25 T C 12: 83,719,651 (GRCm39) L557P probably damaging Het
Rhobtb3 C T 13: 76,026,976 (GRCm39) V466I probably benign Het
Rnpep A G 1: 135,206,596 (GRCm39) V166A probably benign Het
Sgo2a A G 1: 58,056,954 (GRCm39) K1046R probably benign Het
Slc12a2 T C 18: 58,037,465 (GRCm39) V525A probably benign Het
Slc1a4 A T 11: 20,256,487 (GRCm39) I448N probably damaging Het
Slc29a4 C T 5: 142,704,261 (GRCm39) P305L probably benign Het
Slc9a5 T A 8: 106,089,885 (GRCm39) probably null Het
Spag16 A T 1: 69,926,679 (GRCm39) N258I possibly damaging Het
Sspo T A 6: 48,443,633 (GRCm39) L2076Q probably damaging Het
Taok1 T A 11: 77,436,152 (GRCm39) H704L probably damaging Het
Tbc1d9b T C 11: 50,035,947 (GRCm39) F148L probably damaging Het
Traj6 C T 14: 54,450,171 (GRCm39) T9M Het
Ttll4 A G 1: 74,726,418 (GRCm39) N672S possibly damaging Het
Ube3a T A 7: 58,953,437 (GRCm39) H790Q possibly damaging Het
Usp49 G A 17: 47,983,205 (GRCm39) R70Q probably benign Het
Vmn2r32 C T 7: 7,470,373 (GRCm39) V515M possibly damaging Het
Wars1 A G 12: 108,848,801 (GRCm39) S49P probably benign Het
Zbp1 T A 2: 173,049,604 (GRCm39) Q386L possibly damaging Het
Zfp369 T C 13: 65,427,087 (GRCm39) F10S unknown Het
Zfp512 C G 5: 31,630,883 (GRCm39) I408M possibly damaging Het
Zfp952 A G 17: 33,222,756 (GRCm39) I412V 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
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
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'- ACTCTCTGCCATTCGAGAGG -3'
(R):5'- GAACCTCGTTTACTGGCACTAAGC -3'

Sequencing Primer
(F):5'- CTCTGCCATTCGAGAGGAGAGG -3'
(R):5'- GCACTAAGCACTGGCACTATTTAAG -3'
Posted On 2019-10-17