Incidental Mutation 'IGL01152:Tmem116'
ID51204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem116
Ensembl Gene ENSMUSG00000029452
Gene Nametransmembrane protein 116
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01152
Quality Score
Status
Chromosome5
Chromosomal Location121451893-121524183 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121463799 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 21 (I21V)
Ref Sequence ENSEMBL: ENSMUSP00000091917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031405] [ENSMUST00000060004] [ENSMUST00000094357] [ENSMUST00000111795] [ENSMUST00000149966] [ENSMUST00000156080]
Predicted Effect probably benign
Transcript: ENSMUST00000031405
AA Change: I21V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031405
Gene: ENSMUSG00000029452
AA Change: I21V

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
transmembrane domain 65 84 N/A INTRINSIC
transmembrane domain 105 127 N/A INTRINSIC
transmembrane domain 170 192 N/A INTRINSIC
transmembrane domain 225 242 N/A INTRINSIC
transmembrane domain 257 279 N/A INTRINSIC
low complexity region 311 326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000060004
SMART Domains Protein: ENSMUSP00000054232
Gene: ENSMUSG00000029452

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 105 122 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
low complexity region 191 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094357
AA Change: I21V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000091917
Gene: ENSMUSG00000029452
AA Change: I21V

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
transmembrane domain 94 116 N/A INTRINSIC
transmembrane domain 140 162 N/A INTRINSIC
transmembrane domain 205 227 N/A INTRINSIC
transmembrane domain 260 277 N/A INTRINSIC
transmembrane domain 292 314 N/A INTRINSIC
low complexity region 346 361 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111795
SMART Domains Protein: ENSMUSP00000144614
Gene: ENSMUSG00000029452

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000124247
AA Change: N78S
SMART Domains Protein: ENSMUSP00000134334
Gene: ENSMUSG00000029452
AA Change: N78S

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000145729
AA Change: N61S
Predicted Effect probably benign
Transcript: ENSMUST00000149966
SMART Domains Protein: ENSMUSP00000116328
Gene: ENSMUSG00000029452

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 105 123 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000150805
AA Change: N78S
Predicted Effect probably benign
Transcript: ENSMUST00000156080
SMART Domains Protein: ENSMUSP00000121579
Gene: ENSMUSG00000029452

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
transmembrane domain 94 116 N/A INTRINSIC
transmembrane domain 140 162 N/A INTRINSIC
transmembrane domain 205 227 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172722
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,435,164 H356L probably benign Het
A730013G03Rik T G 1: 192,833,639 noncoding transcript Het
Abcb4 G A 5: 8,950,678 V1031M probably benign Het
Abcc4 A G 14: 118,599,385 S655P probably damaging Het
Actn1 T C 12: 80,199,046 K121R probably damaging Het
Aldh1l2 T A 10: 83,522,886 R82* probably null Het
Arhgap31 T A 16: 38,602,239 H1155L possibly damaging Het
Atp8a1 G T 5: 67,847,206 P2Q probably damaging Het
Bcs1l A G 1: 74,592,015 M401V possibly damaging Het
Brca2 A T 5: 150,542,390 N1873I probably damaging Het
Cenpj T C 14: 56,552,300 N764S probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clk1 A T 1: 58,413,452 C359S possibly damaging Het
Clk2 T A 3: 89,176,511 F479I probably damaging Het
Cul4b T C X: 38,543,370 M709V probably damaging Het
D130052B06Rik G T 11: 33,623,620 probably null Het
Dgkb T A 12: 38,084,234 N46K probably damaging Het
Dnah9 C T 11: 66,072,056 R1811H probably damaging Het
Dnajc18 T C 18: 35,680,873 N281S probably benign Het
Galnt5 A T 2: 58,025,393 I654L probably benign Het
Gm9989 T G 3: 81,922,211 noncoding transcript Het
Gpr179 T C 11: 97,337,411 E1306G probably benign Het
Gsc C A 12: 104,471,605 K219N probably damaging Het
Gsx2 A T 5: 75,075,791 I11F probably damaging Het
Igdcc4 A C 9: 65,135,164 E121A probably damaging Het
Lama2 C T 10: 27,208,429 R915H probably benign Het
Large2 A G 2: 92,370,639 L64P probably damaging Het
Lztr1 C A 16: 17,522,453 Q136K probably damaging Het
Mageb18 A G X: 92,119,824 W271R possibly damaging Het
Magoh A C 4: 107,885,006 probably benign Het
Mrgprx1 T C 7: 48,021,486 H171R probably benign Het
Muc1 C A 3: 89,230,754 T301K probably benign Het
Nbas C T 12: 13,360,958 L868F probably damaging Het
Nwd2 A G 5: 63,806,529 D1152G possibly damaging Het
Olfr493 C T 7: 108,346,949 A11T probably benign Het
Olfr77 G A 9: 19,920,949 V247M possibly damaging Het
Ovgp1 T A 3: 105,986,172 D420E possibly damaging Het
Pacsin3 A G 2: 91,263,776 D350G probably benign Het
Pcolce2 A T 9: 95,692,923 N309Y probably damaging Het
Pim2 C A X: 7,878,422 probably benign Het
Plcb1 A G 2: 134,813,659 Y53C probably damaging Het
Pogk T C 1: 166,408,478 E18G probably damaging Het
Pxdn T A 12: 30,001,937 D704E probably damaging Het
Rb1 C A 14: 73,205,870 S781I probably damaging Het
Rnpepl1 A G 1: 92,915,899 H247R possibly damaging Het
Scube1 A T 15: 83,613,570 F697I probably damaging Het
Sel1l3 G T 5: 53,116,333 H1064N probably damaging Het
Serinc3 A G 2: 163,636,911 Y99H probably damaging Het
Slc36a2 T A 11: 55,169,847 probably benign Het
Smarcc1 A C 9: 110,139,625 E130A possibly damaging Het
Strc A G 2: 121,370,795 M1273T probably benign Het
Tmem190 T C 7: 4,784,026 probably benign Het
Trim63 C T 4: 134,325,676 A316V probably benign Het
Ugt2b34 T C 5: 86,901,203 E321G probably damaging Het
Zfat T A 15: 68,110,504 R1053S probably damaging Het
Other mutations in Tmem116
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02711:Tmem116 APN 5 121487741 splice site probably benign
R0008:Tmem116 UTSW 5 121495096 missense probably damaging 1.00
R0131:Tmem116 UTSW 5 121493782 splice site probably benign
R1163:Tmem116 UTSW 5 121493756 missense probably damaging 1.00
R1490:Tmem116 UTSW 5 121495111 missense probably damaging 1.00
R2019:Tmem116 UTSW 5 121489254 missense possibly damaging 0.85
R6007:Tmem116 UTSW 5 121517892 makesense probably null
R6215:Tmem116 UTSW 5 121491108 missense probably benign 0.02
R6216:Tmem116 UTSW 5 121491108 missense probably benign 0.02
R6221:Tmem116 UTSW 5 121491108 missense probably benign 0.02
R6222:Tmem116 UTSW 5 121491108 missense probably benign 0.02
R6980:Tmem116 UTSW 5 121467987 critical splice donor site probably null
R7055:Tmem116 UTSW 5 121467924 missense probably damaging 1.00
R7248:Tmem116 UTSW 5 121463836 splice site probably null
R7268:Tmem116 UTSW 5 121467855 missense
R7485:Tmem116 UTSW 5 121495061 missense
R7655:Tmem116 UTSW 5 121452189 critical splice donor site probably null
R7656:Tmem116 UTSW 5 121452189 critical splice donor site probably null
X0024:Tmem116 UTSW 5 121482394 missense probably damaging 0.97
Posted On2013-06-21