Incidental Mutation 'IGL01115:Tmem115'
ID51950
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? Probably non essential (E-score: 0.174) question?
Stock #IGL01115
Quality Score
Status
Chromosome9
Chromosomal Location107533945-107538673 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 107534582 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 35 (L35Q)
Ref Sequence ENSEMBL: ENSMUSP00000010189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010189] [ENSMUST00000041459] [ENSMUST00000195235]
Predicted Effect probably damaging
Transcript: ENSMUST00000010189
AA Change: L35Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000010189
Gene: ENSMUSG00000010045
AA Change: L35Q

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4430402I18Rik T C 19: 28,944,442 probably null Het
Abcc10 T C 17: 46,310,426 T934A probably benign Het
Ankzf1 T C 1: 75,192,615 L55P probably damaging Het
Aoc1 T C 6: 48,906,197 S336P probably damaging Het
Bmper T C 9: 23,399,689 probably benign Het
Capza2 A G 6: 17,654,123 N58S probably damaging Het
Cdca2 A G 14: 67,714,697 V75A probably damaging Het
Chmp7 A G 14: 69,721,323 S181P probably damaging Het
Colq A G 14: 31,545,128 probably benign Het
Dennd5b A G 6: 149,009,748 probably benign Het
Has3 A G 8: 106,878,688 T509A probably benign Het
Hsh2d T C 8: 72,200,619 S282P probably damaging Het
Impg2 C T 16: 56,259,440 P536S possibly damaging Het
Naip1 T A 13: 100,443,720 probably null Het
Napb T C 2: 148,707,169 Y111C probably damaging Het
Olfr1132 T C 2: 87,635,384 D121G probably damaging Het
Osmr A G 15: 6,847,201 probably benign Het
Pcdh10 A G 3: 45,392,775 T1002A probably damaging Het
Plcg2 T C 8: 117,557,329 W122R probably damaging Het
Prpf19 C T 19: 10,900,203 T204M probably damaging Het
Ptbp1 T A 10: 79,859,962 probably benign Het
Ptpre T A 7: 135,670,764 D402E probably damaging Het
Siglec1 T C 2: 131,074,502 N1176S probably benign Het
Son A G 16: 91,659,458 T1698A probably benign Het
Speer2 C T 16: 69,861,651 W42* probably null Het
Taf5 T C 19: 47,075,082 V357A probably benign Het
Tctn1 A G 5: 122,264,207 S55P probably benign Het
Tmem30c T A 16: 57,276,117 probably benign Het
Tmprss7 T C 16: 45,660,789 D678G probably damaging Het
Ugt1a7c A T 1: 88,095,245 Q42L probably damaging Het
Unc13b T A 4: 43,258,492 V4099E probably damaging Het
Usp36 G A 11: 118,285,960 L11F probably damaging Het
Zfp955a T A 17: 33,242,580 K193* probably null Het
Zranb2 T C 3: 157,546,691 probably benign Het
Other mutations in Tmem115
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01142:Tmem115 APN 9 107534645 missense possibly damaging 0.94
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
X0067:Tmem115 UTSW 9 107534513 missense probably damaging 0.99
Posted On2013-06-21