Incidental Mutation 'R3104:Tm4sf4'
ID 262940
Institutional Source Beutler Lab
Gene Symbol Tm4sf4
Ensembl Gene ENSMUSG00000027801
Gene Name transmembrane 4 superfamily member 4
Synonyms il-TMP
MMRRC Submission 040578-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3104 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 57332831-57349098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57345043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 150 (R150C)
Ref Sequence ENSEMBL: ENSMUSP00000029377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029377]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029377
AA Change: R150C

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029377
Gene: ENSMUSG00000027801
AA Change: R150C

DomainStartEndE-ValueType
Pfam:L6_membrane 1 191 2.7e-80 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ash1l T A 3: 88,961,693 (GRCm39) V2355E probably damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Bmp4 G A 14: 46,623,438 (GRCm39) A36V probably benign Het
Ccdc191 T C 16: 43,751,573 (GRCm39) F301S probably damaging Het
Cdh9 T C 15: 16,855,900 (GRCm39) S647P probably damaging Het
Cntln C T 4: 84,875,406 (GRCm39) T280M possibly damaging Het
Coch A G 12: 51,650,204 (GRCm39) T398A probably benign Het
Col6a3 T C 1: 90,744,024 (GRCm39) R515G probably damaging Het
Csmd1 A G 8: 17,077,247 (GRCm39) Y137H probably damaging Het
Ctnnal1 G A 4: 56,813,246 (GRCm39) L662F probably benign Het
Cyp19a1 T C 9: 54,094,083 (GRCm39) I60V probably benign Het
Cyp2c68 C T 19: 39,722,757 (GRCm39) V264I probably benign Het
Dbx1 A T 7: 49,286,417 (GRCm39) L16H probably damaging Het
Dgkg T A 16: 22,394,091 (GRCm39) T321S probably damaging Het
Dnah7c T A 1: 46,837,439 (GRCm39) Y3951N probably damaging Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Fam124b T A 1: 80,190,748 (GRCm39) I212F probably damaging Het
Fam187b A G 7: 30,676,665 (GRCm39) D58G probably benign Het
Galnt4 T C 10: 98,945,243 (GRCm39) Y323H probably benign Het
Gfpt1 A G 6: 87,034,628 (GRCm39) D142G probably benign Het
Gm5174 A G 10: 86,492,519 (GRCm39) noncoding transcript Het
Gtf2ird2 G A 5: 134,237,756 (GRCm39) D278N probably benign Het
Herc2 T A 7: 55,785,103 (GRCm39) D1480E probably benign Het
Hnf4g T G 3: 3,717,916 (GRCm39) S388R probably benign Het
Il1rap A G 16: 26,541,502 (GRCm39) E581G probably benign Het
Itpr2 A T 6: 146,214,335 (GRCm39) probably null Het
Lgr6 A G 1: 134,928,210 (GRCm39) probably null Het
Lmod2 A C 6: 24,604,471 (GRCm39) K482T probably damaging Het
Magi3 A G 3: 103,958,636 (GRCm39) V483A probably damaging Het
Ncam2 A G 16: 81,262,598 (GRCm39) probably benign Het
Nphs1 C A 7: 30,166,965 (GRCm39) S724* probably null Het
Or5t9 T C 2: 86,660,035 (GRCm39) M313T probably benign Het
Osgep T C 14: 51,154,286 (GRCm39) T225A probably benign Het
Pcdhgc5 A G 18: 37,954,727 (GRCm39) E667G possibly damaging Het
Plce1 C T 19: 38,608,963 (GRCm39) P424L probably benign Het
Plekhg5 C T 4: 152,196,635 (GRCm39) T694M probably damaging Het
Prkag2 T A 5: 25,076,067 (GRCm39) K233* probably null Het
Prune2 T A 19: 17,096,520 (GRCm39) S675T probably damaging Het
Sars1 C T 3: 108,336,621 (GRCm39) R302H probably damaging Het
Sfmbt1 G A 14: 30,539,753 (GRCm39) C847Y probably damaging Het
Sparcl1 T C 5: 104,241,203 (GRCm39) T74A probably benign Het
Sppl2b A G 10: 80,703,325 (GRCm39) E529G probably benign Het
Stradb C A 1: 59,031,450 (GRCm39) H212Q possibly damaging Het
Tkfc G T 19: 10,574,357 (GRCm39) C198* probably null Het
Tmem212 T C 3: 27,939,019 (GRCm39) S156G probably damaging Het
Tmem51 T C 4: 141,765,035 (GRCm39) N8D probably damaging Het
Tmigd1 A G 11: 76,801,124 (GRCm39) T204A possibly damaging Het
Tsga10 G A 1: 37,840,872 (GRCm39) L445F probably damaging Het
Unc80 G A 1: 66,662,450 (GRCm39) V1768I probably benign Het
Urb1 C T 16: 90,592,331 (GRCm39) V310I probably damaging Het
Usp29 T A 7: 6,965,052 (GRCm39) C298* probably null Het
Usp8 T C 2: 126,600,432 (GRCm39) V1050A probably damaging Het
Vmn1r38 T C 6: 66,753,430 (GRCm39) T229A probably benign Het
Yes1 T C 5: 32,810,515 (GRCm39) S195P probably damaging Het
Other mutations in Tm4sf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02707:Tm4sf4 APN 3 57,333,939 (GRCm39) nonsense probably null
A4554:Tm4sf4 UTSW 3 57,345,188 (GRCm39) critical splice donor site probably null
R0582:Tm4sf4 UTSW 3 57,341,278 (GRCm39) splice site probably benign
R2396:Tm4sf4 UTSW 3 57,345,181 (GRCm39) missense unknown
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
Predicted Primers PCR Primer
(F):5'- AGTGTCCCAGACAGTGTCAG -3'
(R):5'- TTTGCTCTGAGAAGAAACAGGG -3'

Sequencing Primer
(F):5'- GAACGACCTACTCAGTGAGATTTGC -3'
(R):5'- AGGGGAATCCTAACTTACCCC -3'
Posted On 2015-02-05