Incidental Mutation 'IGL02711:Tmem116'
ID304583
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 #IGL02711
Quality Score
Status
Chromosome5
Chromosomal Location121451893-121524183 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 121487741 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031405] [ENSMUST00000060004] [ENSMUST00000094357] [ENSMUST00000111795] [ENSMUST00000149966] [ENSMUST00000156080]
Predicted Effect probably benign
Transcript: ENSMUST00000031405
SMART Domains Protein: ENSMUSP00000031405
Gene: ENSMUSG00000029452

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
SMART Domains Protein: ENSMUSP00000091917
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
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 probably benign
Transcript: ENSMUST00000124247
SMART Domains Protein: ENSMUSP00000134334
Gene: ENSMUSG00000029452

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
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 probably benign
Transcript: ENSMUST00000150805
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,723,245 probably null Het
Adamts10 T A 17: 33,538,272 M400K probably damaging Het
Adamts17 G A 7: 67,052,040 probably benign Het
Adh5 A G 3: 138,454,673 K323E probably damaging Het
Angptl2 T C 2: 33,228,243 W10R probably benign Het
Arhgap15 T C 2: 44,116,662 F264L possibly damaging Het
Atp6v1g3 T A 1: 138,283,681 L33Q probably damaging Het
Baz2b A T 2: 59,917,505 probably benign Het
BC027072 T C 17: 71,749,382 D1100G probably benign Het
Capn11 A G 17: 45,632,415 F611S probably damaging Het
Cep152 T A 2: 125,563,942 T1557S possibly damaging Het
Cep76 A T 18: 67,638,336 S75R probably benign Het
Cps1 A G 1: 67,212,517 probably benign Het
Dbf4 G T 5: 8,408,235 A199E probably benign Het
Gldc C T 19: 30,145,146 probably null Het
Hspa14 G A 2: 3,502,520 A117V probably benign Het
Igkv4-80 G A 6: 69,016,817 P30L probably damaging Het
Itga2b A T 11: 102,465,725 W292R possibly damaging Het
Kansl1 A T 11: 104,335,575 S982T probably damaging Het
Klhdc7b A T 15: 89,388,043 K1043* probably null Het
Kmt2a A T 9: 44,824,523 probably benign Het
Krt86 T C 15: 101,473,662 Y38H probably damaging Het
Lingo4 T C 3: 94,403,393 I546T probably benign Het
Lrrk1 A G 7: 66,330,767 S222P probably damaging Het
Lrrk2 T C 15: 91,685,822 V178A possibly damaging Het
Maml2 T C 9: 13,620,063 V191A probably benign Het
Msh3 T C 13: 92,351,311 T133A probably damaging Het
Nck1 T C 9: 100,508,620 D12G probably damaging Het
Nox4 T C 7: 87,396,868 Y572H probably damaging Het
Nqo1 A T 8: 107,392,931 L30Q probably damaging Het
Olfr994 A T 2: 85,430,739 V30E probably damaging Het
Oxr1 A G 15: 41,653,671 probably benign Het
Pcdhb10 A C 18: 37,412,726 D285A possibly damaging Het
Pclo A G 5: 14,522,308 N569S unknown Het
Ppfibp1 T A 6: 147,026,238 Y794* probably null Het
Ripor3 T G 2: 168,006,280 probably benign Het
Rpe65 C A 3: 159,622,877 H441N possibly damaging Het
St14 A G 9: 31,089,900 V845A probably benign Het
Tnfrsf11b A T 15: 54,256,136 D147E probably benign Het
Ttn C A 2: 76,730,122 G27566* probably null Het
Zscan18 G T 7: 12,775,117 probably benign Het
Other mutations in Tmem116
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Tmem116 APN 5 121463799 missense probably benign 0.05
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 On2015-04-16