Incidental Mutation 'IGL02748:Tmem18'
ID 306164
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem18
Ensembl Gene ENSMUSG00000043061
Gene Name transmembrane protein 18
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02748
Quality Score
Status
Chromosome 12
Chromosomal Location 30634442-30641218 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 30638744 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3TUD9
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: 144,203,415 (GRCm39) probably benign Het
Btbd9 T C 17: 30,553,271 (GRCm39) N397S possibly damaging Het
Crlf3 A G 11: 79,950,145 (GRCm39) S162P probably damaging Het
Dctn2 C T 10: 127,113,142 (GRCm39) R231C probably damaging Het
Dhcr24 T C 4: 106,421,589 (GRCm39) probably benign Het
Efcab12 T A 6: 115,797,063 (GRCm39) T364S probably damaging Het
Eps8l3 A G 3: 107,786,684 (GRCm39) probably benign Het
Ezh2 A G 6: 47,535,173 (GRCm39) L92P probably damaging Het
Fbxw15 A G 9: 109,387,278 (GRCm39) I239T possibly damaging Het
Fndc4 T C 5: 31,452,130 (GRCm39) T96A possibly damaging Het
Gcn1 G A 5: 115,748,859 (GRCm39) probably null Het
Ifna13 A G 4: 88,562,097 (GRCm39) S176P probably damaging Het
Kcnh1 A G 1: 191,903,728 (GRCm39) H56R probably damaging Het
Lrp1b T C 2: 40,592,761 (GRCm39) D3786G probably damaging Het
Mcm3ap T A 10: 76,337,082 (GRCm39) V1339E probably damaging Het
Mthfd1l T C 10: 3,968,587 (GRCm39) V414A possibly damaging Het
Mthfd1l T G 10: 3,930,268 (GRCm39) probably null Het
Or10ag56 T A 2: 87,140,009 (GRCm39) L312Q probably damaging Het
Or5an1c A G 19: 12,218,204 (GRCm39) F274L probably benign Het
Or6b3 A G 1: 92,439,189 (GRCm39) L187P probably damaging Het
Pcdhb15 T C 18: 37,608,273 (GRCm39) S502P probably damaging Het
Pde5a T A 3: 122,554,541 (GRCm39) N242K probably damaging Het
Pik3cb A T 9: 98,945,021 (GRCm39) probably benign Het
Rab3gap1 A G 1: 127,865,198 (GRCm39) M729V probably damaging Het
Rai14 A G 15: 10,589,421 (GRCm39) V259A probably benign Het
Rassf4 T C 6: 116,616,418 (GRCm39) I298V possibly damaging Het
Senp7 C T 16: 56,006,457 (GRCm39) T927M probably damaging Het
Snx27 A T 3: 94,410,872 (GRCm39) I426N probably benign Het
Syce1l A T 8: 114,382,097 (GRCm39) probably benign Het
Tnrc6c T C 11: 117,622,996 (GRCm39) S1006P probably benign Het
Utp20 T C 10: 88,653,157 (GRCm39) T308A probably benign Het
Vmn2r24 T A 6: 123,793,057 (GRCm39) C795S possibly damaging Het
Zdhhc20 A G 14: 58,096,010 (GRCm39) S143P probably benign Het
Other mutations in Tmem18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Tmem18 APN 12 30,638,720 (GRCm39) missense unknown
IGL00774:Tmem18 APN 12 30,638,720 (GRCm39) missense unknown
R1557:Tmem18 UTSW 12 30,637,198 (GRCm39) critical splice acceptor site probably null
R2908:Tmem18 UTSW 12 30,637,252 (GRCm39) nonsense probably null
R7053:Tmem18 UTSW 12 30,634,506 (GRCm39) start codon destroyed probably null 0.85
R7199:Tmem18 UTSW 12 30,638,654 (GRCm39) missense probably benign 0.03
R8322:Tmem18 UTSW 12 30,638,517 (GRCm39) missense probably damaging 1.00
R9542:Tmem18 UTSW 12 30,638,557 (GRCm39) missense
Posted On 2015-04-16