Incidental Mutation 'R0009:Tm4sf5'
ID 40486
Institutional Source Beutler Lab
Gene Symbol Tm4sf5
Ensembl Gene ENSMUSG00000018919
Gene Name transmembrane 4 superfamily member 5
Synonyms 2010003F10Rik
MMRRC Submission 038304-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0009 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 70505244-70511178 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70510712 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 179 (A179V)
Ref Sequence ENSEMBL: ENSMUSP00000019063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019063] [ENSMUST00000021179]
AlphaFold Q91XF2
Predicted Effect probably damaging
Transcript: ENSMUST00000019063
AA Change: A179V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019063
Gene: ENSMUSG00000018919
AA Change: A179V

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

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
Meta Mutation Damage Score 0.5625 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (68/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,919,633 probably benign Het
Abcg4 T G 9: 44,277,649 probably benign Het
Afm C A 5: 90,545,384 probably benign Het
Ahrr G A 13: 74,283,024 probably benign Het
Aplnr T A 2: 85,137,276 probably null Het
Arih2 T A 9: 108,611,727 H264L probably damaging Het
Atp1a1 A T 3: 101,579,835 I886N possibly damaging Het
Bmf A T 2: 118,549,622 V14E probably damaging Het
Ccdc116 T C 16: 17,144,039 E15G probably damaging Het
Ccdc175 T C 12: 72,135,965 N427D possibly damaging Het
Cfap53 A G 18: 74,299,176 H45R probably benign Het
Chd3 A G 11: 69,349,906 L1569P probably damaging Het
Cntn2 G A 1: 132,516,180 Q457* probably null Het
Coro1a A T 7: 126,701,413 probably benign Het
Cracr2b T A 7: 141,463,759 L91Q probably damaging Het
Ctdspl T C 9: 119,020,046 probably null Het
Dip2b T A 15: 100,169,312 L565Q probably damaging Het
Dip2c T A 13: 9,621,903 C1004S probably damaging Het
Dnah11 A T 12: 118,045,522 I2135N possibly damaging Het
Dnah14 A G 1: 181,769,407 probably benign Het
Dnase1 T C 16: 4,038,946 V147A probably damaging Het
Dusp8 T C 7: 142,082,054 probably benign Het
Fer1l6 T C 15: 58,662,787 Y1828H probably damaging Het
Flvcr1 A G 1: 191,008,191 V544A probably benign Het
Fsd1l T C 4: 53,687,209 V311A probably benign Het
Glud1 G A 14: 34,334,268 G300S probably benign Het
Gm4847 C T 1: 166,630,486 V433I probably benign Het
Gstm3 T G 3: 107,967,840 Y62S probably damaging Het
Gtse1 C T 15: 85,862,435 P151S probably benign Het
Herc2 T C 7: 56,207,812 S4048P probably benign Het
Hp1bp3 T A 4: 138,221,683 I19K probably benign Het
Htr7 C A 19: 36,041,540 probably benign Het
Il1a C T 2: 129,309,074 D10N probably damaging Het
Il22ra2 A T 10: 19,624,458 N39I probably damaging Het
Kcnn4 T C 7: 24,379,255 C267R possibly damaging Het
Larp1 A G 11: 58,055,473 K879R possibly damaging Het
Lcn5 T A 2: 25,661,405 probably benign Het
Lep T A 6: 29,068,972 C7* probably null Het
Magi2 A T 5: 20,611,055 Y747F probably benign Het
Mast4 T C 13: 102,742,058 T1223A probably damaging Het
Mcc C T 18: 44,445,933 E803K probably damaging Het
Mtmr4 T C 11: 87,611,508 I796T probably benign Het
Myef2 A T 2: 125,108,978 D312E probably benign Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Myo19 T A 11: 84,888,169 probably null Het
Naa15 T G 3: 51,470,219 H763Q probably damaging Het
Pde5a C T 3: 122,824,902 probably benign Het
Plpp2 C T 10: 79,527,244 R184H probably benign Het
Rab19 T G 6: 39,389,687 L179V probably damaging Het
Rims2 T A 15: 39,534,966 M1087K probably damaging Het
Riox2 C A 16: 59,489,367 D361E probably benign Het
Sh3rf1 T A 8: 61,226,293 V123E probably damaging Het
Slc35e1 A T 8: 72,484,709 N318K probably damaging Het
Slc9a2 A T 1: 40,763,602 E604V probably benign Het
Srp72 T C 5: 76,987,885 S221P probably damaging Het
Tbx19 A T 1: 165,160,520 S15T possibly damaging Het
Tcea2 A G 2: 181,685,817 T112A probably benign Het
Tesk1 T A 4: 43,445,368 D230E probably damaging Het
Tnr G T 1: 159,852,416 G320V probably damaging Het
Trappc11 A T 8: 47,503,320 C874S possibly damaging Het
Trpm3 T A 19: 22,914,446 Y885N probably damaging Het
Unc5a T A 13: 55,002,879 C505S probably damaging Het
Vmn1r28 G A 6: 58,265,717 A182T probably benign Het
Xpo5 T C 17: 46,204,786 probably benign Het
Zfp637 C A 6: 117,845,668 H252Q probably damaging Het
Zfp646 T A 7: 127,880,731 D693E probably damaging Het
Other mutations in Tm4sf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02725:Tm4sf5 APN 11 70510622 missense probably benign
IGL03107:Tm4sf5 APN 11 70505397 missense possibly damaging 0.57
IGL03161:Tm4sf5 APN 11 70510272 missense probably benign 0.06
H8562:Tm4sf5 UTSW 11 70505512 splice site probably benign
R0009:Tm4sf5 UTSW 11 70510712 missense probably damaging 1.00
R0269:Tm4sf5 UTSW 11 70510669 missense probably damaging 1.00
R0315:Tm4sf5 UTSW 11 70510636 missense probably damaging 0.99
R0617:Tm4sf5 UTSW 11 70510669 missense probably damaging 1.00
R5477:Tm4sf5 UTSW 11 70510348 missense probably benign 0.02
R9418:Tm4sf5 UTSW 11 70510308 missense probably damaging 1.00
Z1176:Tm4sf5 UTSW 11 70505445 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-23