Incidental Mutation 'IGL01539:Tspan18'
ID 90100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan18
Ensembl Gene ENSMUSG00000027217
Gene Name tetraspanin 18
Synonyms 2610042G18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01539
Quality Score
Status
Chromosome 2
Chromosomal Location 93032105-93164850 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93041198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 135 (S135P)
Ref Sequence ENSEMBL: ENSMUSP00000106896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028646] [ENSMUST00000111265]
AlphaFold Q80WR1
Predicted Effect probably damaging
Transcript: ENSMUST00000028646
AA Change: S135P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028646
Gene: ENSMUSG00000027217
AA Change: S135P

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 247 1.8e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111265
AA Change: S135P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106896
Gene: ENSMUSG00000027217
AA Change: S135P

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 247 3.3e-50 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4b T A 3: 144,631,918 (GRCm39) M196L probably benign Het
Cyp4a14 T C 4: 115,344,374 (GRCm39) N497S possibly damaging Het
Eif3b T C 5: 140,416,008 (GRCm39) probably benign Het
Grin2c T C 11: 115,140,932 (GRCm39) Q1062R probably benign Het
Ina A G 19: 47,003,903 (GRCm39) E237G probably damaging Het
Lmx1b T C 2: 33,529,510 (GRCm39) D83G possibly damaging Het
Macf1 A G 4: 123,289,701 (GRCm39) probably benign Het
Muc6 T A 7: 141,236,306 (GRCm39) M406L probably benign Het
Myo15b T C 11: 115,754,299 (GRCm39) I933T probably benign Het
Or4c121 A G 2: 89,023,836 (GRCm39) F181L possibly damaging Het
Or6c204 T C 10: 129,022,804 (GRCm39) N162S probably benign Het
Pde1b A T 15: 103,433,772 (GRCm39) probably benign Het
Rab29 G A 1: 131,798,445 (GRCm39) R75Q probably damaging Het
Scn10a A T 9: 119,467,764 (GRCm39) I792N probably damaging Het
Serpinb6a A T 13: 34,114,117 (GRCm39) V70D probably damaging Het
Slco1a7 A G 6: 141,673,333 (GRCm39) S402P possibly damaging Het
Spart A G 3: 55,024,723 (GRCm39) D106G possibly damaging Het
Sucla2 A G 14: 73,828,561 (GRCm39) E359G probably damaging Het
Sycp2 T C 2: 178,016,488 (GRCm39) Y658C probably damaging Het
Tenm2 T A 11: 35,997,654 (GRCm39) T811S possibly damaging Het
Trim66 C A 7: 109,054,273 (GRCm39) M1312I probably benign Het
Ube2j1 T C 4: 33,043,993 (GRCm39) probably benign Het
Ubr1 A C 2: 120,756,494 (GRCm39) V711G possibly damaging Het
Veph1 T C 3: 66,065,496 (GRCm39) T524A probably benign Het
Vmn1r222 A T 13: 23,417,059 (GRCm39) F51L probably benign Het
Vwf G T 6: 125,567,225 (GRCm39) V338L possibly damaging Het
Zfp770 G T 2: 114,027,574 (GRCm39) A165E probably damaging Het
Other mutations in Tspan18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02897:Tspan18 APN 2 93,050,518 (GRCm39) missense possibly damaging 0.92
R2513:Tspan18 UTSW 2 93,050,440 (GRCm39) missense possibly damaging 0.81
R3826:Tspan18 UTSW 2 93,050,453 (GRCm39) missense probably benign 0.00
R3827:Tspan18 UTSW 2 93,050,453 (GRCm39) missense probably benign 0.00
R3830:Tspan18 UTSW 2 93,050,453 (GRCm39) missense probably benign 0.00
R4114:Tspan18 UTSW 2 93,142,291 (GRCm39) critical splice donor site probably null
R4697:Tspan18 UTSW 2 93,142,375 (GRCm39) splice site probably null
R5468:Tspan18 UTSW 2 93,040,207 (GRCm39) missense probably benign
R6358:Tspan18 UTSW 2 93,040,219 (GRCm39) missense probably benign 0.17
R6707:Tspan18 UTSW 2 93,040,302 (GRCm39) missense probably benign 0.27
R7389:Tspan18 UTSW 2 93,040,272 (GRCm39) missense probably benign 0.05
R7942:Tspan18 UTSW 2 93,041,203 (GRCm39) missense probably benign 0.01
R7955:Tspan18 UTSW 2 93,040,305 (GRCm39) missense possibly damaging 0.81
R8155:Tspan18 UTSW 2 93,040,357 (GRCm39) splice site probably null
R9255:Tspan18 UTSW 2 93,040,200 (GRCm39) missense probably benign
R9328:Tspan18 UTSW 2 93,036,065 (GRCm39) missense probably benign 0.12
R9510:Tspan18 UTSW 2 93,050,462 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03