Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01612:Tmem186'

92160

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem186

Ensembl Gene

ENSMUSG00000043140

Gene Name

transmembrane protein 186

Synonyms

2810440M13Rik, 4432406C05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL01612

Quality Score

Status

Chromosome

Chromosomal Location

8451595-8455575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8453733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 176 (V176A)

Ref Sequence

ENSEMBL: ENSMUSP00000053862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023396] [ENSMUST00000052505] [ENSMUST00000230828]

AlphaFold

Q9CR76

Predicted Effect

probably benign
Transcript: ENSMUST00000023396

SMART Domains

Protein: ENSMUSP00000023396
Gene: ENSMUSG00000022711

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_3	5	229	1.6e-11	PFAM
Pfam:PMM	24	242	6.7e-115	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052505
AA Change: V176A

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053862
Gene: ENSMUSG00000043140
AA Change: V176A

Domain	Start	End	E-Value	Type
transmembrane domain	69	91	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143174

Predicted Effect

probably benign
Transcript: ENSMUST00000230828

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a potential transmembrane protein. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,988 (GRCm39)	T1326A	possibly damaging	Het
Afg3l1	C	T	8: 124,221,592 (GRCm39)	R484C	probably benign	Het
Atg2a	C	A	19: 6,302,514 (GRCm39)	Q946K	probably benign	Het
Cdh20	T	C	1: 104,921,895 (GRCm39)	Y731H	probably benign	Het
Cdk15	A	G	1: 59,328,932 (GRCm39)	D282G	possibly damaging	Het
Ctnnd2	T	C	15: 31,005,164 (GRCm39)	S1073P	probably damaging	Het
Dnah2	T	C	11: 69,355,889 (GRCm39)		probably benign	Het
Evi2a	T	A	11: 79,417,978 (GRCm39)	R211W	probably damaging	Het
Fmo1	T	A	1: 162,661,168 (GRCm39)	I372F	probably benign	Het
Glyctk	T	C	9: 106,032,471 (GRCm39)	D514G	probably damaging	Het
Gmnc	G	A	16: 26,779,069 (GRCm39)	Q313*	probably null	Het
Grik1	T	C	16: 87,743,623 (GRCm39)	T520A	probably damaging	Het
Gtsf2	A	T	15: 103,353,340 (GRCm39)	C9S	probably damaging	Het
Ift80	T	G	3: 68,870,996 (GRCm39)	N200T	possibly damaging	Het
Ints1	A	G	5: 139,742,047 (GRCm39)	S1771P	probably benign	Het
Lrba	A	G	3: 86,683,484 (GRCm39)	T2769A	possibly damaging	Het
Lrfn2	G	T	17: 49,377,425 (GRCm39)	V169L	possibly damaging	Het
Mei1	G	A	15: 81,973,753 (GRCm39)	R80H	probably damaging	Het
Nbeal2	A	T	9: 110,473,746 (GRCm39)	V31E	probably damaging	Het
Ncapd2	G	T	6: 125,154,835 (GRCm39)	P546T	probably benign	Het
Or52l1	A	G	7: 104,829,929 (GRCm39)	V212A	probably damaging	Het
Pan3	T	C	5: 147,390,052 (GRCm39)		probably benign	Het
Rab3b	T	A	4: 108,781,223 (GRCm39)		probably null	Het
Rabl2	T	C	15: 89,467,615 (GRCm39)	K119E	probably benign	Het
Reln	A	G	5: 22,101,928 (GRCm39)	V3334A	probably damaging	Het
Rfx1	A	G	8: 84,819,601 (GRCm39)		probably null	Het
Rhod	T	C	19: 4,476,247 (GRCm39)	Y168C	probably damaging	Het
Sag	T	C	1: 87,733,071 (GRCm39)	I13T	probably damaging	Het
Sat2	T	C	11: 69,513,789 (GRCm39)		probably null	Het
Scn5a	A	T	9: 119,315,091 (GRCm39)	D1872E	possibly damaging	Het
Sh2b2	T	G	5: 136,260,656 (GRCm39)	I187L	probably benign	Het
Slit3	G	A	11: 35,591,211 (GRCm39)	G1341D	possibly damaging	Het
Tmed11	A	T	5: 108,927,750 (GRCm39)	S95T	possibly damaging	Het
Trim12c	A	T	7: 103,997,422 (GRCm39)	S45T	possibly damaging	Het
Ube4b	C	A	4: 149,468,275 (GRCm39)	R167L	probably damaging	Het
Zfp335	A	T	2: 164,752,540 (GRCm39)		probably null	Het

Other mutations in Tmem186

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01773:Tmem186	APN	16	8,453,841 (GRCm39)	missense	probably damaging	1.00
R2311:Tmem186	UTSW	16	8,453,748 (GRCm39)	missense	probably benign	0.00
R4386:Tmem186	UTSW	16	8,453,887 (GRCm39)	missense	probably benign	0.30
R4827:Tmem186	UTSW	16	8,453,681 (GRCm39)	nonsense	probably null
R5979:Tmem186	UTSW	16	8,454,024 (GRCm39)	missense	probably damaging	1.00
R7780:Tmem186	UTSW	16	8,453,731 (GRCm39)	missense	probably benign	0.04
R8020:Tmem186	UTSW	16	8,454,024 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09