Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00770:Tmem18'

277877

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 #

IGL00770

Quality Score

Status

Chromosome

Chromosomal Location

30634442-30641218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30638720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 133 (R133G)

Ref Sequence

ENSEMBL: ENSMUSP00000050729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057151]

AlphaFold

Q3TUD9

Predicted Effect

unknown
Transcript: ENSMUST00000057151
AA Change: R133G

SMART Domains

Protein: ENSMUSP00000050729
Gene: ENSMUSG00000043061
AA Change: R133G

Domain	Start	End	E-Value	Type
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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,306,776 (GRCm39)	A1397T	possibly damaging	Het
Aldob	A	G	4: 49,536,843 (GRCm39)	S349P	probably benign	Het
Cd2	A	T	3: 101,190,345 (GRCm39)		probably null	Het
Cmtm2a	A	G	8: 105,019,562 (GRCm39)	S43P	probably damaging	Het
Cts6	T	C	13: 61,346,153 (GRCm39)		probably benign	Het
E2f3	A	T	13: 30,102,687 (GRCm39)	D68E	probably damaging	Het
Ect2	G	A	3: 27,152,592 (GRCm39)	R869W	probably damaging	Het
Eml1	A	G	12: 108,480,774 (GRCm39)		probably null	Het
Fundc1	T	A	X: 17,424,252 (GRCm39)		probably null	Het
Gabrb1	G	T	5: 72,265,789 (GRCm39)		probably null	Het
Lrrk2	T	G	15: 91,686,036 (GRCm39)		probably benign	Het
Map3k2	C	T	18: 32,361,292 (GRCm39)	P584L	probably benign	Het
Mindy2	T	C	9: 70,538,315 (GRCm39)	D340G	probably benign	Het
Nav3	T	C	10: 109,652,124 (GRCm39)	D877G	probably damaging	Het
Nol9	T	C	4: 152,136,472 (GRCm39)	S515P	probably benign	Het
Osgepl1	A	G	1: 53,359,405 (GRCm39)	I305V	probably benign	Het
Pign	A	G	1: 105,525,481 (GRCm39)	V449A	probably benign	Het
Rad54b	G	A	4: 11,593,765 (GRCm39)	R131K	probably benign	Het
Rgl3	A	T	9: 21,899,018 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,566,197 (GRCm39)	D1407G	probably damaging	Het
Sf3b3	A	T	8: 111,544,270 (GRCm39)	I790N	probably damaging	Het
Srebf1	C	T	11: 60,095,965 (GRCm39)	R358Q	probably damaging	Het
Tnfrsf11b	T	G	15: 54,117,468 (GRCm39)	R262S	probably benign	Het
Tsc1	A	T	2: 28,555,023 (GRCm39)	H171L	probably damaging	Het
Ubr5	T	C	15: 38,006,785 (GRCm39)	T1157A	probably benign	Het
Wdcp	A	G	12: 4,905,303 (GRCm39)	E608G	probably damaging	Het

Other mutations in Tmem18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00774:Tmem18	APN	12	30,638,720 (GRCm39)	missense	unknown
IGL02748:Tmem18	APN	12	30,638,744 (GRCm39)	makesense	probably null
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