Incidental Mutation 'IGL02725:Tm4sf5'
ID 305139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm4sf5
Ensembl Gene ENSMUSG00000018919
Gene Name transmembrane 4 superfamily member 5
Synonyms 2010003F10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL02725
Quality Score
Status
Chromosome 11
Chromosomal Location 70396100-70402009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70401448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 149 (H149R)
Ref Sequence ENSEMBL: ENSMUSP00000019063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019063] [ENSMUST00000021179]
AlphaFold Q91XF2
Predicted Effect probably benign
Transcript: ENSMUST00000019063
AA Change: H149R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019063
Gene: ENSMUSG00000018919
AA Change: H149R

DomainStartEndE-ValueType
Pfam:L6_membrane 1 189 3.8e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000021179
SMART Domains Protein: ENSMUSP00000021179
Gene: ENSMUSG00000020830

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:VOMI 35 199 6.2e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179986
Coding Region Coverage
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 glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,611,445 (GRCm39) I414T possibly damaging Het
Agpat3 A C 10: 78,113,889 (GRCm39) D266E probably benign Het
Alpk3 G T 7: 80,743,358 (GRCm39) Q1058H possibly damaging Het
Atat1 A T 17: 36,220,381 (GRCm39) V37E probably benign Het
Bcl6b A G 11: 70,119,344 (GRCm39) V124A probably damaging Het
Bmt2 T C 6: 13,628,495 (GRCm39) E396G probably damaging Het
Ccdc50 T C 16: 27,255,347 (GRCm39) C237R probably benign Het
Chd9 A G 8: 91,778,312 (GRCm39) I2790M possibly damaging Het
Chkb A G 15: 89,313,340 (GRCm39) L82P probably damaging Het
Cit T C 5: 116,123,532 (GRCm39) Y1458H probably benign Het
Clp1 T A 2: 84,554,208 (GRCm39) K320N probably benign Het
Cry2 T C 2: 92,243,605 (GRCm39) probably benign Het
Cyp20a1 C T 1: 60,405,865 (GRCm39) R220W probably benign Het
Cyp27a1 C T 1: 74,774,862 (GRCm39) P268S probably damaging Het
Cyp2e1 T G 7: 140,343,828 (GRCm39) I22S probably null Het
Defb34 A G 8: 19,173,774 (GRCm39) T3A unknown Het
Dpy19l3 A T 7: 35,411,343 (GRCm39) M422K probably benign Het
Eif4g3 A T 4: 137,897,782 (GRCm39) probably benign Het
Elmod3 A G 6: 72,571,758 (GRCm39) S7P probably damaging Het
Fam151a T G 4: 106,605,211 (GRCm39) S524R probably damaging Het
Gcc1 A T 6: 28,418,458 (GRCm39) V625E probably benign Het
Glmn G A 5: 107,723,155 (GRCm39) P112S possibly damaging Het
Grm5 A C 7: 87,723,873 (GRCm39) D721A probably damaging Het
Hivep3 T C 4: 119,953,019 (GRCm39) V445A possibly damaging Het
Hmcn1 T A 1: 150,480,654 (GRCm39) E4507D possibly damaging Het
Hmcn2 A C 2: 31,295,540 (GRCm39) E2583A probably damaging Het
Ifnb1 T A 4: 88,440,867 (GRCm39) I49F probably benign Het
Ints8 A C 4: 11,239,406 (GRCm39) C306W probably benign Het
Jakmip2 A G 18: 43,695,655 (GRCm39) S540P probably damaging Het
Kctd1 A G 18: 15,102,667 (GRCm39) V838A possibly damaging Het
Klk10 T C 7: 43,431,044 (GRCm39) L29P probably damaging Het
Lyst T A 13: 13,935,412 (GRCm39) I3627K probably damaging Het
Maml3 A G 3: 52,011,195 (GRCm39) S124P probably damaging Het
Nav2 A T 7: 49,214,843 (GRCm39) K1632I probably damaging Het
Or2ab1 T C 11: 58,488,690 (GRCm39) V156A probably benign Het
Pde2a G T 7: 101,156,425 (GRCm39) M616I probably null Het
Pdia2 T C 17: 26,415,506 (GRCm39) D440G probably benign Het
Rab11fip5 A G 6: 85,351,471 (GRCm39) S14P probably damaging Het
Rhpn2 T C 7: 35,079,031 (GRCm39) S383P probably damaging Het
Rnf220 A G 4: 117,129,576 (GRCm39) probably benign Het
Rnf43 A G 11: 87,622,411 (GRCm39) D504G probably damaging Het
Setbp1 A T 18: 78,900,589 (GRCm39) L1026* probably null Het
Slc1a4 A T 11: 20,258,408 (GRCm39) S264T probably damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sptan1 T C 2: 29,886,055 (GRCm39) I739T probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stat5b A T 11: 100,695,840 (GRCm39) D47E possibly damaging Het
Taar7b A T 10: 23,875,961 (GRCm39) Y42F probably benign Het
Tfdp2 T A 9: 96,169,748 (GRCm39) I33K possibly damaging Het
Tmco6 A G 18: 36,871,760 (GRCm39) M257V probably benign Het
Tuba8 G T 6: 121,202,916 (GRCm39) G410* probably null Het
Ubd T A 17: 37,504,853 (GRCm39) V4D probably benign Het
Ugt2b34 C T 5: 87,054,284 (GRCm39) V166I probably benign Het
Vmn2r70 C T 7: 85,214,553 (GRCm39) V200I possibly damaging Het
Wdcp A T 12: 4,901,206 (GRCm39) N354I probably damaging Het
Wipi2 A T 5: 142,652,618 (GRCm39) Y410F possibly damaging Het
Zc3hav1 G T 6: 38,309,127 (GRCm39) P565Q probably damaging Het
Zfp398 T C 6: 47,842,737 (GRCm39) V131A probably benign Het
Zkscan3 T C 13: 21,579,063 (GRCm39) D144G possibly damaging Het
Zpbp T A 11: 11,412,358 (GRCm39) probably benign Het
Other mutations in Tm4sf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03107:Tm4sf5 APN 11 70,396,223 (GRCm39) missense possibly damaging 0.57
IGL03161:Tm4sf5 APN 11 70,401,098 (GRCm39) missense probably benign 0.06
H8562:Tm4sf5 UTSW 11 70,396,338 (GRCm39) splice site probably benign
R0009:Tm4sf5 UTSW 11 70,401,538 (GRCm39) missense probably damaging 1.00
R0009:Tm4sf5 UTSW 11 70,401,538 (GRCm39) missense probably damaging 1.00
R0269:Tm4sf5 UTSW 11 70,401,495 (GRCm39) missense probably damaging 1.00
R0315:Tm4sf5 UTSW 11 70,401,462 (GRCm39) missense probably damaging 0.99
R0617:Tm4sf5 UTSW 11 70,401,495 (GRCm39) missense probably damaging 1.00
R5477:Tm4sf5 UTSW 11 70,401,174 (GRCm39) missense probably benign 0.02
R9418:Tm4sf5 UTSW 11 70,401,134 (GRCm39) missense probably damaging 1.00
Z1176:Tm4sf5 UTSW 11 70,396,271 (GRCm39) missense probably benign
Posted On 2015-04-16