Incidental Mutation 'IGL02748:Tmem18'
ID306164
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 #IGL02748
Quality Score
Status
Chromosome12
Chromosomal Location30584426-30591215 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to C at 30588745 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Glutamine at position 141 (*141Q)
Ref Sequence ENSEMBL: ENSMUSP00000050729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057151]
Predicted Effect probably null
Transcript: ENSMUST00000057151
AA Change: *141Q
SMART Domains Protein: ENSMUSP00000050729
Gene: ENSMUSG00000043061
AA Change: *141Q

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baiap2l1 T A 5: 144,266,605 probably benign Het
Btbd9 T C 17: 30,334,297 N397S possibly damaging Het
Crlf3 A G 11: 80,059,319 S162P probably damaging Het
Dctn2 C T 10: 127,277,273 R231C probably damaging Het
Dhcr24 T C 4: 106,564,392 probably benign Het
Efcab12 T A 6: 115,820,102 T364S probably damaging Het
Eps8l3 A G 3: 107,879,368 probably benign Het
Ezh2 A G 6: 47,558,239 L92P probably damaging Het
Fbxw15 A G 9: 109,558,210 I239T possibly damaging Het
Fndc4 T C 5: 31,294,786 T96A possibly damaging Het
Gcn1l1 G A 5: 115,610,800 probably null Het
Ifna13 A G 4: 88,643,860 S176P probably damaging Het
Kcnh1 A G 1: 192,221,420 H56R probably damaging Het
Lrp1b T C 2: 40,702,749 D3786G probably damaging Het
Mcm3ap T A 10: 76,501,248 V1339E probably damaging Het
Mthfd1l T C 10: 4,018,587 V414A possibly damaging Het
Mthfd1l T G 10: 3,980,268 probably null Het
Olfr1118 T A 2: 87,309,665 L312Q probably damaging Het
Olfr1414 A G 1: 92,511,467 L187P probably damaging Het
Olfr262 A G 19: 12,240,840 F274L probably benign Het
Pcdhb15 T C 18: 37,475,220 S502P probably damaging Het
Pde5a T A 3: 122,760,892 N242K probably damaging Het
Pik3cb A T 9: 99,062,968 probably benign Het
Rab3gap1 A G 1: 127,937,461 M729V probably damaging Het
Rai14 A G 15: 10,589,335 V259A probably benign Het
Rassf4 T C 6: 116,639,457 I298V possibly damaging Het
Senp7 C T 16: 56,186,094 T927M probably damaging Het
Snx27 A T 3: 94,503,565 I426N probably benign Het
Syce1l A T 8: 113,655,465 probably benign Het
Tnrc6c T C 11: 117,732,170 S1006P probably benign Het
Utp20 T C 10: 88,817,295 T308A probably benign Het
Vmn2r24 T A 6: 123,816,098 C795S possibly damaging Het
Zdhhc20 A G 14: 57,858,553 S143P probably benign Het
Other mutations in Tmem18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Tmem18 APN 12 30588721 missense unknown
IGL00774:Tmem18 APN 12 30588721 missense unknown
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