Incidental Mutation 'R7328:Tm4sf4'
ID 569037
Institutional Source Beutler Lab
Gene Symbol Tm4sf4
Ensembl Gene ENSMUSG00000027801
Gene Name transmembrane 4 superfamily member 4
Synonyms il-TMP
MMRRC Submission 045421-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 57332831-57349098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57333925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 71 (N71Y)
Ref Sequence ENSEMBL: ENSMUSP00000029377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029377]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029377
AA Change: N71Y

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029377
Gene: ENSMUSG00000027801
AA Change: N71Y

DomainStartEndE-ValueType
Pfam:L6_membrane 1 191 2.7e-80 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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 that can regulate cell proliferation.[provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C G 11: 72,060,606 (GRCm39) probably null Het
Abca13 T A 11: 9,241,545 (GRCm39) V1136E probably benign Het
Arl4c C A 1: 88,629,239 (GRCm39) E50* probably null Het
Atxn7l1 T C 12: 33,198,502 (GRCm39) probably null Het
Ctdsp1 A T 1: 74,433,199 (GRCm39) I115F probably damaging Het
Cyp2j5 A G 4: 96,551,450 (GRCm39) V91A probably damaging Het
Dscam T A 16: 96,446,235 (GRCm39) K1469* probably null Het
Elf2 A G 3: 51,174,198 (GRCm39) C110R probably damaging Het
Ephb1 A G 9: 102,072,438 (GRCm39) Y114H probably damaging Het
Ephb2 C T 4: 136,386,245 (GRCm39) probably null Het
Fbxw20 C A 9: 109,061,383 (GRCm39) C122F probably damaging Het
Flnb T C 14: 7,883,788 (GRCm38) I338T possibly damaging Het
Flnb T A 14: 7,894,660 (GRCm38) Y819* probably null Het
Foxo3 A T 10: 42,073,258 (GRCm39) S420T probably benign Het
Herpud1 T C 8: 95,113,248 (GRCm39) V10A possibly damaging Het
Hmcn1 A T 1: 150,514,617 (GRCm39) V3585E possibly damaging Het
Hsdl1 T C 8: 120,292,830 (GRCm39) T202A probably benign Het
Htr1d G A 4: 136,170,614 (GRCm39) S281N probably benign Het
Igkv14-111 T A 6: 68,233,709 (GRCm39) I70N probably damaging Het
Igkv8-34 A G 6: 70,021,328 (GRCm39) S45P probably damaging Het
Inha T C 1: 75,486,760 (GRCm39) Y352H probably damaging Het
Lats1 A T 10: 7,581,311 (GRCm39) M699L possibly damaging Het
Marchf9 T C 10: 126,894,165 (GRCm39) E146G probably damaging Het
Mcm8 T C 2: 132,674,777 (GRCm39) V443A probably benign Het
Melk A T 4: 44,332,931 (GRCm39) S296C probably benign Het
Myo18a T C 11: 77,698,737 (GRCm39) S4P Het
Myof T C 19: 37,904,847 (GRCm39) Y1646C probably damaging Het
Noc4l C A 5: 110,796,789 (GRCm39) A498S possibly damaging Het
Nrxn3 T C 12: 88,762,345 (GRCm39) S131P probably benign Het
Or5ae2 T C 7: 84,506,507 (GRCm39) I312T probably benign Het
Or5ak23 A G 2: 85,244,668 (GRCm39) I185T probably benign Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Or8g23 T C 9: 38,971,857 (GRCm39) Y35C probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Phldb2 T A 16: 45,578,572 (GRCm39) probably null Het
Polr2b C T 5: 77,463,846 (GRCm39) P81L probably damaging Het
Rbfa C A 18: 80,236,454 (GRCm39) G215C probably benign Het
Rdh19 T C 10: 127,692,896 (GRCm39) S188P probably damaging Het
Scn9a T C 2: 66,314,931 (GRCm39) M1596V probably benign Het
Sele A T 1: 163,876,844 (GRCm39) Y40F probably benign Het
Setd1b T A 5: 123,290,442 (GRCm39) V803D unknown Het
Siglecf C T 7: 43,001,691 (GRCm39) T167I possibly damaging Het
Slc39a6 T C 18: 24,733,987 (GRCm39) E234G probably benign Het
Slco1a1 T A 6: 141,882,134 (GRCm39) D145V possibly damaging Het
Son G A 16: 91,455,278 (GRCm39) V1342I probably benign Het
Sybu G A 15: 44,651,190 (GRCm39) P38L not run Het
Taf15 C T 11: 83,375,658 (GRCm39) T41M possibly damaging Het
Tm7sf2 C T 19: 6,114,156 (GRCm39) V226I possibly damaging Het
Trim66 C A 7: 109,056,958 (GRCm39) Q1066H probably damaging Het
Tyw1 T C 5: 130,291,685 (GRCm39) V51A probably benign Het
Vav3 A T 3: 109,410,744 (GRCm39) I192L probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AAAAGCTGCCATGAGCCATCG -3'
(R):5'- CTGGCATCTCAGTGTACTGG -3'

Sequencing Primer
(F):5'- GCCATCGGCTGTTAGGTC -3'
(R):5'- GAGCTTAATCCTGTACCAGATGGC -3'
Posted On 2019-09-13