Incidental Mutation 'A4554:Tm4sf4'
ID 95
Institutional Source Beutler Lab
Gene Symbol Tm4sf4
Ensembl Gene ENSMUSG00000027801
Gene Name transmembrane 4 superfamily member 4
Synonyms il-TMP
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # A4554 of strain gemini
Quality Score
Status Validated
Chromosome 3
Chromosomal Location 57332831-57349098 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 57345188 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029377] [ENSMUST00000029377]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000029377
SMART Domains Protein: ENSMUSP00000029377
Gene: ENSMUSG00000027801

DomainStartEndE-ValueType
Pfam:L6_membrane 1 191 2.7e-80 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000029377
SMART Domains Protein: ENSMUSP00000029377
Gene: ENSMUSG00000027801

DomainStartEndE-ValueType
Pfam:L6_membrane 1 191 2.7e-80 PFAM
Meta Mutation Damage Score 0.9488 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 63.0%
Validation Efficiency 84% (92/109)
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 glycoprotein that can regulate cell proliferation.[provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap1 T C 15: 63,996,560 (GRCm39) probably benign Het
Bpifb5 A T 2: 154,069,100 (GRCm39) Y139F possibly damaging Homo
Chd2 A C 7: 73,130,716 (GRCm39) V782G probably benign Homo
Chst4 G T 8: 110,756,520 (GRCm39) Q448K probably benign Homo
Dido1 T C 2: 180,317,164 (GRCm39) K8E probably damaging Homo
Evpl A G 11: 116,111,660 (GRCm39) L2010P probably damaging Homo
Fgl2 A G 5: 21,577,776 (GRCm39) E21G probably benign Homo
Greb1l A T 18: 10,532,862 (GRCm39) M919L possibly damaging Homo
Kel T A 6: 41,674,353 (GRCm39) D359V possibly damaging Homo
Lmtk2 A G 5: 144,103,135 (GRCm39) D298G possibly damaging Homo
Masp1 A T 16: 23,273,690 (GRCm39) probably null Homo
Mrgprb8 A T 7: 48,039,156 (GRCm39) I276F probably damaging Homo
Nde1 T C 16: 14,006,274 (GRCm39) probably benign Homo
Rbck1 G T 2: 152,161,092 (GRCm39) N385K probably damaging Homo
Senp6 G T 9: 80,055,740 (GRCm39) probably benign Het
Ubn2 A T 6: 38,461,045 (GRCm39) H488L probably damaging Homo
Vmn2r120 A G 17: 57,832,715 (GRCm39) F155L probably benign Homo
Vmn2r65 T A 7: 84,595,791 (GRCm39) T298S probably damaging Homo
Other mutations in Tm4sf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02707:Tm4sf4 APN 3 57,333,939 (GRCm39) nonsense probably null
R0582:Tm4sf4 UTSW 3 57,341,278 (GRCm39) splice site probably benign
R2396:Tm4sf4 UTSW 3 57,345,181 (GRCm39) missense unknown
R3104:Tm4sf4 UTSW 3 57,345,043 (GRCm39) missense possibly damaging 0.86
R3105:Tm4sf4 UTSW 3 57,345,043 (GRCm39) missense possibly damaging 0.86
R3106:Tm4sf4 UTSW 3 57,345,043 (GRCm39) missense possibly damaging 0.86
R3888:Tm4sf4 UTSW 3 57,345,166 (GRCm39) nonsense probably null
R5279:Tm4sf4 UTSW 3 57,341,159 (GRCm39) missense probably benign 0.00
R6287:Tm4sf4 UTSW 3 57,333,112 (GRCm39) missense probably damaging 1.00
R7328:Tm4sf4 UTSW 3 57,333,925 (GRCm39) missense probably benign 0.12
Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at base pair 57241689 in the Genbank genomic region NC_000069 for the Tm4sf4 gene on chromosome 3 (GTAAGTTAGG -> GAAAGTTAGG). The mutation is located within intron 4, two nucleotides from the previous exon 4. The Tm4sf4 transcript contains 5 total exons. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1). 

Protein Function and Prediction

The Tm4sf4  gene encodes a 202 amino acid multi-pass membrane protein that belongs to the L6 tetraspanin family. Tm4sf4 may regulate the adhesive and proliferative status of intestinal epithelial cells (Uniprot Q91XD3).

Posted On 2010-03-16