Incidental Mutation 'IGL01142:Tmem115'
ID52004
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem115
Ensembl Gene ENSMUSG00000010045
Gene Nametransmembrane protein 115
SynonymsPl6
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.252) question?
Stock #IGL01142
Quality Score
Status
Chromosome9
Chromosomal Location107533945-107538673 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107534645 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 56 (N56S)
Ref Sequence ENSEMBL: ENSMUSP00000010189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010189] [ENSMUST00000041459] [ENSMUST00000195235]
Predicted Effect possibly damaging
Transcript: ENSMUST00000010189
AA Change: N56S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045
AA Change: N56S

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
DUF1751 49 151 4.14e-41 SMART
transmembrane domain 164 183 N/A INTRINSIC
transmembrane domain 190 208 N/A INTRINSIC
transmembrane domain 223 245 N/A INTRINSIC
Blast:DUF1751 304 347 2e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000041459
SMART Domains Protein: ENSMUSP00000044093
Gene: ENSMUSG00000037190

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
B561 47 178 8.01e-42 SMART
transmembrane domain 189 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194344
Predicted Effect probably benign
Transcript: ENSMUST00000195235
SMART Domains Protein: ENSMUSP00000141723
Gene: ENSMUSG00000037190

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
B561 47 178 8.01e-42 SMART
transmembrane domain 189 211 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc3 C T 2: 19,297,898 probably benign Het
Cacnb3 T A 15: 98,642,002 L269* probably null Het
Calu T C 6: 29,366,208 probably null Het
Cep97 A G 16: 55,922,198 S129P probably damaging Het
Cpt1b T C 15: 89,418,993 M620V probably benign Het
Dnah7b T C 1: 46,195,378 probably null Het
Evi5 T C 5: 107,815,611 K410R probably benign Het
Gad2 T C 2: 22,681,285 probably benign Het
Helb A T 10: 120,111,144 V88D probably damaging Het
Hexim2 A G 11: 103,134,134 E19G probably benign Het
Klhl25 T C 7: 75,866,596 Y112H probably damaging Het
Lin52 T C 12: 84,456,235 probably benign Het
Ms4a4c A G 19: 11,426,250 T157A probably benign Het
Olfr1120 T C 2: 87,357,545 F34L possibly damaging Het
Olfr829 A G 9: 18,857,534 N303S probably damaging Het
Plxnb1 A G 9: 109,102,697 T472A probably benign Het
Sez6 T G 11: 77,973,816 V534G probably damaging Het
Sim1 C A 10: 50,910,671 T333K probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Ubac1 T C 2: 26,006,568 I150V probably damaging Het
Vps13a T C 19: 16,687,115 K1455E possibly damaging Het
Yrdc T C 4: 124,853,994 F97L probably damaging Het
Other mutations in Tmem115
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Tmem115 APN 9 107534582 missense probably damaging 1.00
IGL01386:Tmem115 APN 9 107534660 missense probably damaging 1.00
IGL01705:Tmem115 APN 9 107535204 missense probably benign 0.44
R0746:Tmem115 UTSW 9 107537999 missense probably benign 0.11
R1511:Tmem115 UTSW 9 107534975 missense probably benign 0.04
R4182:Tmem115 UTSW 9 107535283 missense probably damaging 1.00
R4770:Tmem115 UTSW 9 107534957 missense probably benign 0.43
R5097:Tmem115 UTSW 9 107534860 missense probably benign 0.03
R5141:Tmem115 UTSW 9 107537942 missense probably benign 0.01
R5687:Tmem115 UTSW 9 107534855 missense probably benign 0.17
R7145:Tmem115 UTSW 9 107535086 missense probably benign 0.30
R8299:Tmem115 UTSW 9 107534546 missense possibly damaging 0.94
R8353:Tmem115 UTSW 9 107534798 missense probably benign 0.44
R8453:Tmem115 UTSW 9 107534798 missense probably benign 0.44
X0067:Tmem115 UTSW 9 107534513 missense probably damaging 0.99
Posted On2013-06-21