Incidental Mutation 'IGL03247:Tm4sf1'
ID414455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm4sf1
Ensembl Gene ENSMUSG00000027800
Gene Nametransmembrane 4 superfamily member 1
SynonymsL6, 12A8 target antigen, L6 antigen, M3s1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL03247
Quality Score
Status
Chromosome3
Chromosomal Location57285611-57301988 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57293015 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 89 (S89P)
Ref Sequence ENSEMBL: ENSMUSP00000143652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029376] [ENSMUST00000171384] [ENSMUST00000196506] [ENSMUST00000196979]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029376
AA Change: S89P

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029376
Gene: ENSMUSG00000027800
AA Change: S89P

DomainStartEndE-ValueType
Pfam:L6_membrane 1 194 6e-77 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171384
AA Change: S89P

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130999
Gene: ENSMUSG00000027800
AA Change: S89P

DomainStartEndE-ValueType
Pfam:L6_membrane 1 195 1.2e-96 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196506
AA Change: S89P

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143697
Gene: ENSMUSG00000027800
AA Change: S89P

DomainStartEndE-ValueType
Pfam:L6_membrane 1 137 3.5e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196704
Predicted Effect possibly damaging
Transcript: ENSMUST00000196979
AA Change: S89P

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143652
Gene: ENSMUSG00000027800
AA Change: S89P

DomainStartEndE-ValueType
Pfam:L6_membrane 1 194 6e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198030
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 antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 55,770,096 I926F probably damaging Het
Agap3 A G 5: 24,487,822 N418D probably damaging Het
Alms1 T C 6: 85,678,597 V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 M1L possibly damaging Het
Aox4 A G 1: 58,264,367 D1188G probably damaging Het
Car2 T A 3: 14,887,939 L47Q probably damaging Het
Catsper2 A G 2: 121,410,200 V107A probably benign Het
Catsperg2 T C 7: 29,717,048 N313S possibly damaging Het
Dolk T C 2: 30,285,511 Y174C probably damaging Het
Erfe A G 1: 91,370,425 E219G probably benign Het
Ern2 T C 7: 122,171,671 E733G probably benign Het
Fam159a A T 4: 108,367,901 C155S probably benign Het
Fam228a A G 12: 4,737,734 F13S probably damaging Het
Fancd2 T C 6: 113,568,208 V829A probably benign Het
Gid4 C A 11: 60,432,343 T87N probably benign Het
H2-Ob A G 17: 34,243,492 K152R probably benign Het
Ifna2 T A 4: 88,683,377 T135S probably benign Het
Il1rapl2 G A X: 138,789,680 G298D probably damaging Het
Mbd1 T A 18: 74,274,754 L174* probably null Het
Mga T A 2: 119,935,513 D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 M54K probably benign Het
Mphosph8 T A 14: 56,678,820 probably null Het
Mrps23 A G 11: 88,210,096 probably benign Het
Necab1 C T 4: 14,960,046 M300I probably benign Het
Nid2 G A 14: 19,779,620 D660N probably damaging Het
Olfr693 T A 7: 106,677,547 H313L probably benign Het
Olfr824 T A 10: 130,126,715 E114V probably damaging Het
P2ry13 A T 3: 59,209,592 V255D possibly damaging Het
Peak1 C T 9: 56,257,930 E905K probably damaging Het
Picalm C A 7: 90,194,291 Q550K probably benign Het
Rnf103 T A 6: 71,510,305 V640E possibly damaging Het
Sec31b T G 19: 44,518,940 K817N possibly damaging Het
Skint2 C A 4: 112,626,026 H209Q probably benign Het
Skint5 T C 4: 113,940,808 S193G probably damaging Het
Tacr3 A G 3: 134,930,091 probably benign Het
Tek A G 4: 94,865,443 M1041V possibly damaging Het
Tusc3 T A 8: 39,130,777 N299K possibly damaging Het
Washc4 T C 10: 83,564,463 S418P probably benign Het
Other mutations in Tm4sf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02004:Tm4sf1 APN 3 57293078 missense possibly damaging 0.87
IGL02988:Tm4sf1 UTSW 3 57293116 splice site probably null
R0195:Tm4sf1 UTSW 3 57293059 missense probably damaging 1.00
R1710:Tm4sf1 UTSW 3 57292883 missense probably damaging 1.00
R4573:Tm4sf1 UTSW 3 57294785 missense possibly damaging 0.78
R4801:Tm4sf1 UTSW 3 57294679 missense probably damaging 1.00
R4802:Tm4sf1 UTSW 3 57294679 missense probably damaging 1.00
R4917:Tm4sf1 UTSW 3 57293027 missense probably damaging 1.00
R4918:Tm4sf1 UTSW 3 57293027 missense probably damaging 1.00
R5127:Tm4sf1 UTSW 3 57292868 missense possibly damaging 0.79
R5670:Tm4sf1 UTSW 3 57293087 missense probably benign 0.03
R5946:Tm4sf1 UTSW 3 57292868 missense possibly damaging 0.79
R6905:Tm4sf1 UTSW 3 57294909 start gained probably benign
R7334:Tm4sf1 UTSW 3 57293089 missense probably damaging 1.00
R7508:Tm4sf1 UTSW 3 57294755 missense probably benign
R8013:Tm4sf1 UTSW 3 57292898 missense probably benign 0.04
R8014:Tm4sf1 UTSW 3 57292898 missense probably benign 0.04
R8024:Tm4sf1 UTSW 3 57287765 nonsense probably null
Posted On2016-08-02