Incidental Mutation 'R6358:Tspan18'
ID513320
Institutional Source Beutler Lab
Gene Symbol Tspan18
Ensembl Gene ENSMUSG00000027217
Gene Nametetraspanin 18
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6358 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location93201760-93334505 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93209874 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 179 (R179G)
Ref Sequence ENSEMBL: ENSMUSP00000106896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028646] [ENSMUST00000111265]
Predicted Effect probably benign
Transcript: ENSMUST00000028646
AA Change: R179G

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028646
Gene: ENSMUSG00000027217
AA Change: R179G

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 247 1.8e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111265
AA Change: R179G

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106896
Gene: ENSMUSG00000027217
AA Change: R179G

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 247 3.3e-50 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 40,826,681 V703A probably benign Het
Adgrv1 T A 13: 81,414,583 Q5389L probably damaging Het
Aldh18a1 A T 19: 40,577,678 I42N possibly damaging Het
Ankrd28 A C 14: 31,710,864 C575W probably damaging Het
Car14 T A 3: 95,898,175 T329S possibly damaging Het
Cdhr2 T C 13: 54,736,546 F1298S probably damaging Het
Crhr2 A G 6: 55,093,043 I341T probably benign Het
D5Ertd579e T A 5: 36,616,236 probably null Het
Emilin1 A G 5: 30,918,218 E601G probably damaging Het
Erbin T A 13: 103,845,565 Q456L probably damaging Het
Glp1r T C 17: 30,932,644 V405A probably benign Het
Gm10220 C G 5: 26,120,305 probably null Het
Gm2016 A G 12: 87,877,000 E139G unknown Het
Gm527 A T 12: 64,923,548 H219L possibly damaging Het
Gorasp2 T A 2: 70,672,760 M1K probably null Het
H2-DMa T A 17: 34,137,984 L152H probably damaging Het
Hsd3b7 T A 7: 127,801,537 H54Q probably damaging Het
Hspa12b T C 2: 131,137,066 probably benign Het
Iars C A 13: 49,727,143 T1006K possibly damaging Het
Jmjd1c T C 10: 67,225,939 V1357A probably benign Het
Magi3 T C 3: 104,050,952 M606V probably damaging Het
Mia T C 7: 27,180,978 D24G probably benign Het
Mon2 A T 10: 123,013,504 L1297Q probably damaging Het
Musk T A 4: 58,373,171 S691T possibly damaging Het
Myo5c A T 9: 75,296,012 E1463D possibly damaging Het
Ndufs6 C T 13: 73,320,319 G87D probably damaging Het
Npnt C T 3: 132,904,718 V415I probably benign Het
Ntsr2 A G 12: 16,656,768 I266V probably benign Het
Olfr259 T C 2: 87,108,434 probably benign Het
Olfr736 A T 14: 50,393,388 I211F possibly damaging Het
Pkmyt1 T A 17: 23,733,656 probably null Het
Polr1e T C 4: 45,026,813 L166P probably damaging Het
Ppib T G 9: 66,061,474 F48C probably damaging Het
Ppl C A 16: 5,087,929 E1501* probably null Het
Prpf8 T C 11: 75,491,495 V384A probably benign Het
Ptch1 T G 13: 63,513,689 S1212R probably damaging Het
Ralb C A 1: 119,476,005 D131Y probably damaging Het
Rfx4 T A 10: 84,844,235 M141K probably damaging Het
Rgl2 T A 17: 33,937,131 probably null Het
Rpl27 A G 11: 101,443,956 probably benign Het
Sdc1 A C 12: 8,791,297 T213P probably damaging Het
Setx T A 2: 29,171,348 N2256K possibly damaging Het
Shank2 A G 7: 144,031,297 M12V probably benign Het
Slc22a28 T A 19: 8,071,888 K332M probably damaging Het
Slf2 A T 19: 44,935,425 H226L probably benign Het
Tbc1d10b T C 7: 127,203,412 S362G probably benign Het
Tbxas1 G A 6: 38,952,112 probably benign Het
Tctn1 A G 5: 122,261,512 V83A probably damaging Het
Tgm4 A G 9: 123,056,518 E375G probably damaging Het
Tmeff2 T A 1: 51,133,114 Y247* probably null Het
Tmem167b C T 3: 108,558,895 R79H possibly damaging Het
Tmprss7 T G 16: 45,669,573 M429L probably benign Het
Tnfsf18 T A 1: 161,503,579 D99E probably benign Het
Tnrc18 A T 5: 142,727,981 S2534T probably damaging Het
Tnxb A G 17: 34,678,994 E872G probably damaging Het
Tomm40l C T 1: 171,219,637 V237I possibly damaging Het
Trbv2 A G 6: 41,047,902 Q84R probably benign Het
Tspan8 G T 10: 115,833,227 V56L probably benign Het
Zbtb22 T C 17: 33,918,737 S619P probably damaging Het
Zfp2 A T 11: 50,900,601 I205N probably damaging Het
Zfpm1 A G 8: 122,337,111 probably benign Het
Other mutations in Tspan18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01539:Tspan18 APN 2 93210853 missense probably damaging 1.00
IGL02897:Tspan18 APN 2 93220173 missense possibly damaging 0.92
R2513:Tspan18 UTSW 2 93220095 missense possibly damaging 0.81
R3826:Tspan18 UTSW 2 93220108 missense probably benign 0.00
R3827:Tspan18 UTSW 2 93220108 missense probably benign 0.00
R3830:Tspan18 UTSW 2 93220108 missense probably benign 0.00
R4114:Tspan18 UTSW 2 93311946 critical splice donor site probably null
R4697:Tspan18 UTSW 2 93312030 splice site probably null
R5468:Tspan18 UTSW 2 93209862 missense probably benign
R6707:Tspan18 UTSW 2 93209957 missense probably benign 0.27
R7389:Tspan18 UTSW 2 93209927 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CTGTGCCACAGCCAGAATTG -3'
(R):5'- TTACCGCAGTCATATGCAGGG -3'

Sequencing Primer
(F):5'- GTGCCACAGCCAGAATTGTTTAC -3'
(R):5'- TCATATGCAGGGCAGAGGGATC -3'
Posted On2018-04-27