Mutagenetix > Incidental Mutation

Incidental Mutation 'R2311:Tmem186'

245359

Institutional Source

Beutler Lab

Gene Symbol

Tmem186

Ensembl Gene

ENSMUSG00000043140

Gene Name

transmembrane protein 186

Synonyms

2810440M13Rik, 4432406C05Rik

MMRRC Submission

040310-MU

Accession Numbers

Essential gene?

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

Stock #

R2311 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8451595-8455575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8453748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 171 (V171A)

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

probably benign
Transcript: ENSMUST00000052505
AA Change: V171A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000053862
Gene: ENSMUSG00000043140
AA Change: V171A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (41/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7e	G	A	15: 77,602,236 (GRCm39)	R278H	probably benign	Het
Arhgef17	A	G	7: 100,578,111 (GRCm39)	S946P	probably benign	Het
Capsl	A	T	15: 9,462,689 (GRCm39)	R110*	probably null	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dock8	T	A	19: 25,160,368 (GRCm39)	I1757N	possibly damaging	Het
Dthd1	T	C	5: 62,996,580 (GRCm39)		probably benign	Het
Eif5a2	A	G	3: 28,836,325 (GRCm39)	E42G	possibly damaging	Het
Elovl3	A	G	19: 46,121,639 (GRCm39)	S61G	probably benign	Het
Elp4	T	C	2: 105,672,677 (GRCm39)	N136S	probably benign	Het
Elp6	A	G	9: 110,149,886 (GRCm39)	S223G	probably benign	Het
Eml1	T	A	12: 108,503,675 (GRCm39)	D743E	probably damaging	Het
Ezh2	T	C	6: 47,535,194 (GRCm39)	Q85R	probably damaging	Het
Fermt3	C	A	19: 6,991,530 (GRCm39)	C194F	probably damaging	Het
Flg	A	G	3: 93,200,260 (GRCm39)		probably benign	Het
Gfi1b	C	T	2: 28,500,186 (GRCm39)	G282R	probably damaging	Het
Gpr176	A	T	2: 118,109,927 (GRCm39)	I444K	probably benign	Het
Gvin-ps3	T	C	7: 105,682,797 (GRCm39)	K153E	probably damaging	Het
Gys2	A	T	6: 142,408,970 (GRCm39)	M95K	possibly damaging	Het
Hgs	C	T	11: 120,370,474 (GRCm39)	R167W	probably damaging	Het
Map3k20	T	C	2: 72,198,784 (GRCm39)	I130T	probably damaging	Het
Nckap5	A	T	1: 126,456,489 (GRCm39)	Y25N	probably damaging	Het
Npc1	C	T	18: 12,335,240 (GRCm39)	V629I	probably benign	Het
Nrl	C	A	14: 55,759,909 (GRCm39)	S6I	probably damaging	Het
Or10am5	A	T	7: 6,517,741 (GRCm39)	M229K	probably benign	Het
Or4c29	T	A	2: 88,739,813 (GRCm39)	D308V	probably benign	Het
Or5d37	T	C	2: 87,924,178 (GRCm39)	N34S	probably benign	Het
Oxct2b	T	C	4: 123,011,211 (GRCm39)	F377S	probably damaging	Het
Plb1	T	C	5: 32,427,162 (GRCm39)	S91P	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Postn	A	T	3: 54,292,644 (GRCm39)	Y737F	probably damaging	Het
Serpina1e	T	A	12: 103,917,388 (GRCm39)	I94F	possibly damaging	Het
Serpine2	A	G	1: 79,788,265 (GRCm39)		probably benign	Het
Stox2	T	C	8: 47,645,013 (GRCm39)	R816G	probably damaging	Het
Tep1	T	C	14: 51,071,024 (GRCm39)	N2092D	possibly damaging	Het
Trim58	G	A	11: 58,533,934 (GRCm39)	V163M	probably benign	Het
Trim59	G	T	3: 68,945,162 (GRCm39)	C59*	probably null	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vill	A	G	9: 118,894,965 (GRCm39)	N61S	probably benign	Het
Zer1	C	T	2: 29,991,834 (GRCm39)	R662H	probably damaging	Het
Zfp644	A	C	5: 106,782,822 (GRCm39)	V1184G	probably benign	Het
Zfp974	A	G	7: 27,609,866 (GRCm39)	S620P	possibly damaging	Het

Other mutations in Tmem186

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01612:Tmem186	APN	16	8,453,733 (GRCm39)	missense	possibly damaging	0.71
IGL01773:Tmem186	APN	16	8,453,841 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TGTCCTAGGCCTTCTGTCTAAAATC -3'
(R):5'- AGTTCACTGTGCCTTCTGGG -3'

Sequencing Primer
(F):5'- GGCCTTCTGTCTAAAATCCAAGTG -3'
(R):5'- AGCTTTGCCCTGGCCATG -3'

Posted On

2014-10-30