Incidental Mutation 'R4152:Tspan15'
ID 314960
Institutional Source Beutler Lab
Gene Symbol Tspan15
Ensembl Gene ENSMUSG00000037031
Gene Name tetraspanin 15
Synonyms Tm4sf15, 2700063A19Rik
MMRRC Submission 040996-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4152 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62021175-62067030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62025621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 197 (M197K)
Ref Sequence ENSEMBL: ENSMUSP00000047029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047883]
AlphaFold F7BWT7
Predicted Effect possibly damaging
Transcript: ENSMUST00000047883
AA Change: M197K

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047029
Gene: ENSMUSG00000037031
AA Change: M197K

DomainStartEndE-ValueType
Pfam:Tetraspannin 18 259 1.1e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219106
Meta Mutation Damage Score 0.3742 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (45/47)
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. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,183,752 (GRCm39) M31R possibly damaging Het
Akap6 A C 12: 53,187,190 (GRCm39) S1535R probably benign Het
Ap3b2 A G 7: 81,127,765 (GRCm39) I137T probably damaging Het
Cdc16 A G 8: 13,812,857 (GRCm39) S36G probably damaging Het
Clcn4 T C 7: 7,297,833 (GRCm39) N67D probably benign Het
Col4a1 T C 8: 11,267,227 (GRCm39) probably null Het
Crem G T 18: 3,288,055 (GRCm39) N179K probably damaging Het
Fam78b T C 1: 166,906,369 (GRCm39) M176T probably benign Het
Fcgbpl1 T A 7: 27,856,322 (GRCm39) H2036Q possibly damaging Het
Gcn1 A G 5: 115,751,413 (GRCm39) probably null Het
Gm6483 T C 8: 19,737,926 (GRCm39) noncoding transcript Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klk1b16 T C 7: 43,789,973 (GRCm39) F81S probably benign Het
Lpgat1 C A 1: 191,451,600 (GRCm39) Y36* probably null Het
Mavs A G 2: 131,088,528 (GRCm39) D444G probably benign Het
Ndst3 T C 3: 123,465,876 (GRCm39) Y32C probably damaging Het
Nemp2 A G 1: 52,680,210 (GRCm39) S145G probably benign Het
Or52b1 T C 7: 104,978,592 (GRCm39) N269S probably damaging Het
Or7g20 T A 9: 18,946,816 (GRCm39) Y132* probably null Het
Or8g52 A C 9: 39,631,296 (GRCm39) M258L probably benign Het
Pds5a A T 5: 65,823,514 (GRCm39) C92* probably null Het
Pgk2 A G 17: 40,519,149 (GRCm39) V93A probably damaging Het
Phf3 C T 1: 30,870,539 (GRCm39) V116I probably benign Het
Prl8a2 T C 13: 27,534,985 (GRCm39) Y86H possibly damaging Het
Rab4b T C 7: 26,875,551 (GRCm39) probably benign Het
Rsad1 T C 11: 94,439,449 (GRCm39) probably benign Het
Sim1 G A 10: 50,859,950 (GRCm39) C604Y probably damaging Het
Slc5a3 T A 16: 91,874,696 (GRCm39) L251* probably null Het
Slit3 A G 11: 35,589,147 (GRCm39) N1234S probably damaging Het
Sntg1 A T 1: 8,653,569 (GRCm39) probably null Het
Snx31 T C 15: 36,525,785 (GRCm39) N305D probably benign Het
St14 T C 9: 31,001,802 (GRCm39) I768V probably benign Het
Tep1 G A 14: 51,075,051 (GRCm39) H1755Y possibly damaging Het
Tlr6 A C 5: 65,110,555 (GRCm39) F784C probably damaging Het
Tmem132a A G 19: 10,836,427 (GRCm39) V701A probably benign Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vegfb T C 19: 6,963,446 (GRCm39) Y106C probably damaging Het
Vmn2r100 AAAACAGGAGTATTGATTGGAAAC AAAAC 17: 19,743,681 (GRCm39) probably null Het
Vmn2r18 T A 5: 151,485,730 (GRCm39) Q588L probably damaging Het
Vmn2r66 T C 7: 84,654,800 (GRCm39) D503G probably benign Het
Zc3h15 T C 2: 83,488,913 (GRCm39) V161A probably benign Het
Other mutations in Tspan15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02145:Tspan15 APN 10 62,029,751 (GRCm39) splice site probably benign
PIT1430001:Tspan15 UTSW 10 62,023,899 (GRCm39) missense probably damaging 0.98
R0071:Tspan15 UTSW 10 62,038,849 (GRCm39) splice site probably benign
R0071:Tspan15 UTSW 10 62,038,849 (GRCm39) splice site probably benign
R0310:Tspan15 UTSW 10 62,023,872 (GRCm39) missense probably benign 0.01
R2415:Tspan15 UTSW 10 62,037,570 (GRCm39) missense probably benign 0.00
R4766:Tspan15 UTSW 10 62,027,323 (GRCm39) missense probably benign 0.00
R7446:Tspan15 UTSW 10 62,029,734 (GRCm39) missense probably benign
R8814:Tspan15 UTSW 10 62,023,835 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAAACCCTCTATTAGCTGAGGAG -3'
(R):5'- TTCACTGGGGCATTTCCTGG -3'

Sequencing Primer
(F):5'- CCCTCTATTAGCTGAGGAGTAGGAC -3'
(R):5'- TCCTGGAGGTGGTCACTAAGATAC -3'
Posted On 2015-05-14