Incidental Mutation 'IGL02897:Tspan18'
ID363453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspan18
Ensembl Gene ENSMUSG00000027217
Gene Nametetraspanin 18
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02897
Quality Score
Status
Chromosome2
Chromosomal Location93201760-93334505 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93220173 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 35 (L35P)
Ref Sequence ENSEMBL: ENSMUSP00000106896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028646] [ENSMUST00000111265]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028646
AA Change: L35P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028646
Gene: ENSMUSG00000027217
AA Change: L35P

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 247 1.8e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111265
AA Change: L35P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106896
Gene: ENSMUSG00000027217
AA Change: L35P

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,517,308 E108D probably benign Het
Abca7 T C 10: 80,001,592 F437L probably damaging Het
Abi2 T C 1: 60,448,194 V134A probably damaging Het
Ablim2 T C 5: 35,833,126 I75T probably damaging Het
Aldh1a3 A G 7: 66,427,327 V29A probably benign Het
Bptf T C 11: 107,047,121 K2715E probably damaging Het
Cd163 A T 6: 124,325,527 S1017C probably damaging Het
Cdc14b T C 13: 64,247,253 I76V probably benign Het
Cers6 T A 2: 68,934,533 C63* probably null Het
Chd9 T C 8: 90,933,868 probably benign Het
Col19a1 T C 1: 24,534,098 N198D unknown Het
Cse1l T C 2: 166,919,708 C61R possibly damaging Het
Cubn T C 2: 13,318,312 T2815A possibly damaging Het
Cyp19a1 G T 9: 54,166,911 T453K possibly damaging Het
Dlg1 G T 16: 31,771,856 probably null Het
Dpp7 T C 2: 25,353,672 Y339C probably damaging Het
Dtl T C 1: 191,541,544 probably benign Het
Gm5591 T C 7: 38,520,042 E469G probably damaging Het
Ing3 T A 6: 21,969,326 V202E probably benign Het
Inpp5j A G 11: 3,500,619 L578P probably damaging Het
Irak4 A G 15: 94,553,991 N155S probably benign Het
Kif2b A T 11: 91,576,219 S413T probably damaging Het
L3mbtl1 A T 2: 162,965,772 Y490F probably damaging Het
Med17 T G 9: 15,267,534 D447A probably damaging Het
Med26 T C 8: 72,496,521 T245A probably benign Het
Nlrc3 A T 16: 3,964,074 S490R possibly damaging Het
Nme5 A G 18: 34,569,903 probably benign Het
Olfr611 T C 7: 103,518,130 R85G probably benign Het
Rnf10 G T 5: 115,248,641 Q530K probably benign Het
Robo3 A T 9: 37,427,502 Y281* probably null Het
Sclt1 T C 3: 41,675,387 I330V probably benign Het
Smim14 A T 5: 65,450,396 probably benign Het
Trank1 T G 9: 111,367,517 H1536Q probably damaging Het
Ubr4 G A 4: 139,472,508 V4568M probably damaging Het
Vmn1r63 A G 7: 5,802,745 V296A possibly damaging Het
Other mutations in Tspan18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01539:Tspan18 APN 2 93210853 missense probably damaging 1.00
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
R6358:Tspan18 UTSW 2 93209874 missense probably benign 0.17
R6707:Tspan18 UTSW 2 93209957 missense probably benign 0.27
R7389:Tspan18 UTSW 2 93209927 missense probably benign 0.05
R8155:Tspan18 UTSW 2 93210012 intron probably null
Posted On2015-12-18