Incidental Mutation 'IGL00774:Tmem18'
ID277906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem18
Ensembl Gene ENSMUSG00000043061
Gene Nametransmembrane protein 18
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL00774
Quality Score
Status
Chromosome12
Chromosomal Location30584426-30591215 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30588721 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 133 (R133G)
Ref Sequence ENSEMBL: ENSMUSP00000050729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057151]
Predicted Effect unknown
Transcript: ENSMUST00000057151
AA Change: R133G
SMART Domains Protein: ENSMUSP00000050729
Gene: ENSMUSG00000043061
AA Change: R133G

DomainStartEndE-ValueType
Pfam:TMEM18 14 133 5.7e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218826
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit a male-specific increase in body weight, fat mass and lean mass whether fed standard chow or a high-fat diet, increased suseptibility to diet-induced obesity, increased energy expenditure and increased food intake. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,388,539 A1397T possibly damaging Het
Aldob A G 4: 49,536,843 S349P probably benign Het
Cd2 A T 3: 101,283,029 probably null Het
Cmtm2a A G 8: 104,292,930 S43P probably damaging Het
Cts6 T C 13: 61,198,339 probably benign Het
Cyp4a10 A T 4: 115,532,538 I447F probably damaging Het
E2f3 A T 13: 29,918,704 D68E probably damaging Het
Ect2 G A 3: 27,098,443 R869W probably damaging Het
Eml1 A G 12: 108,514,515 probably null Het
Fundc1 T A X: 17,558,013 probably null Het
Gabrb1 G T 5: 72,108,446 probably null Het
Lrrk2 T G 15: 91,801,833 probably benign Het
Map3k2 C T 18: 32,228,239 P584L probably benign Het
Mindy2 T C 9: 70,631,033 D340G probably benign Het
Nav3 T C 10: 109,816,263 D877G probably damaging Het
Nol9 T C 4: 152,052,015 S515P probably benign Het
Osgepl1 A G 1: 53,320,246 I305V probably benign Het
Pign A G 1: 105,597,756 V449A probably benign Het
Rad54b G A 4: 11,593,765 R131K probably benign Het
Rgl3 A T 9: 21,987,722 probably benign Het
Scn2a A G 2: 65,735,853 D1407G probably damaging Het
Sf3b3 A T 8: 110,817,638 I790N probably damaging Het
Srebf1 C T 11: 60,205,139 R358Q probably damaging Het
Tnfrsf11b T G 15: 54,254,072 R262S probably benign Het
Tsc1 A T 2: 28,665,011 H171L probably damaging Het
Ubr5 T C 15: 38,006,541 T1157A probably benign Het
Wdcp A G 12: 4,855,303 E608G probably damaging Het
Zbtb40 T G 4: 136,994,524 H848P probably damaging Het
Other mutations in Tmem18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Tmem18 APN 12 30588721 missense unknown
IGL02748:Tmem18 APN 12 30588745 makesense probably null
R1557:Tmem18 UTSW 12 30587199 critical splice acceptor site probably null
R2908:Tmem18 UTSW 12 30587253 nonsense probably null
R7053:Tmem18 UTSW 12 30584507 start codon destroyed probably null 0.85
R7199:Tmem18 UTSW 12 30588655 missense probably benign 0.03
R8322:Tmem18 UTSW 12 30588518 missense probably damaging 1.00
Posted On2015-04-16