Incidental Mutation 'R6287:Tm4sf4'
ID 508263
Institutional Source Beutler Lab
Gene Symbol Tm4sf4
Ensembl Gene ENSMUSG00000027801
Gene Name transmembrane 4 superfamily member 4
Synonyms il-TMP
MMRRC Submission 044457-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6287 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 57332831-57349098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57333112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 26 (I26N)
Ref Sequence ENSEMBL: ENSMUSP00000029377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029377]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029377
AA Change: I26N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029377
Gene: ENSMUSG00000027801
AA Change: I26N

DomainStartEndE-ValueType
Pfam:L6_membrane 1 191 2.7e-80 PFAM
Meta Mutation Damage Score 0.7202 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 94% (34/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 A G 8: 89,037,736 (GRCm39) N268S possibly damaging Het
Ahnak T A 19: 8,992,367 (GRCm39) H4550Q probably benign Het
C330018D20Rik A C 18: 57,095,407 (GRCm39) probably null Het
Camta2 G C 11: 70,572,295 (GRCm39) Q310E probably damaging Het
Caskin1 A T 17: 24,715,683 (GRCm39) K149M probably damaging Het
Chml T C 1: 175,514,569 (GRCm39) K108E probably benign Het
Ddx60 T C 8: 62,403,612 (GRCm39) L345P probably damaging Het
Defb6 T A 8: 19,278,085 (GRCm39) C52* probably null Het
Flii A T 11: 60,612,423 (GRCm39) I288N probably damaging Het
Fmnl2 T C 2: 52,904,860 (GRCm39) Y55H probably damaging Het
Galk2 A T 2: 125,712,268 (GRCm39) probably benign Het
Ift140 T A 17: 25,269,408 (GRCm39) C688S probably benign Het
Lmln T C 16: 32,894,555 (GRCm39) probably null Het
Muc16 T C 9: 18,570,330 (GRCm39) T730A unknown Het
Nup88 T C 11: 70,856,581 (GRCm39) E184G probably benign Het
Omt2b T C 9: 78,235,543 (GRCm39) F27L possibly damaging Het
Or10g3 A T 14: 52,609,748 (GRCm39) V254E probably damaging Het
Or2a7 A G 6: 43,151,369 (GRCm39) I150V probably benign Het
Or2y13 A G 11: 49,415,072 (GRCm39) N174S probably damaging Het
Or4a15 G A 2: 89,193,363 (GRCm39) R137* probably null Het
Or6c69b T C 10: 129,627,254 (GRCm39) E68G probably damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pigf G A 17: 87,304,967 (GRCm39) A192V probably damaging Het
Pikfyve T C 1: 65,292,691 (GRCm39) probably null Het
Ppat A T 5: 77,066,061 (GRCm39) Y352* probably null Het
Rapgef6 T G 11: 54,517,164 (GRCm39) probably null Het
Rrp15 A T 1: 186,481,373 (GRCm39) S45T probably benign Het
Sap18 A G 14: 58,035,771 (GRCm39) E30G probably damaging Het
Snx6 G T 12: 54,793,813 (GRCm39) A284E possibly damaging Het
Traf5 A G 1: 191,731,833 (GRCm39) L336P probably damaging Het
Ttl G A 2: 128,931,041 (GRCm39) A335T probably damaging Het
Vmn2r87 C T 10: 130,314,291 (GRCm39) probably null Het
Zfp74 G A 7: 29,635,201 (GRCm39) T169I probably benign Het
Zfp937 A T 2: 150,080,261 (GRCm39) H97L possibly damaging Het
Zzef1 G T 11: 72,813,938 (GRCm39) E2842D 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
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
R7328:Tm4sf4 UTSW 3 57,333,925 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- TTCTTATTGACCCCGGTACAGC -3'
(R):5'- TATTAGGGCACTACTTTTCATCGC -3'

Sequencing Primer
(F):5'- TACAGCCACTGGAACGTGCTG -3'
(R):5'- GGGCACTACTTTTCATCGCATATAGG -3'
Posted On 2018-03-15