Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01773:Tmem186'

153728

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: 0.085) question?

Stock #

IGL01773

Quality Score

Status

Chromosome

Chromosomal Location

8451595-8455575 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8453841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 140 (L140P)

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 damaging
Transcript: ENSMUST00000052505
AA Change: L140P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053862
Gene: ENSMUSG00000043140
AA Change: L140P

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1s	C	A	1: 136,046,491 (GRCm39)	H1775Q	probably benign	Het
Calcrl	A	G	2: 84,200,787 (GRCm39)	Y86H	probably benign	Het
Ccdc63	T	C	5: 122,251,208 (GRCm39)	K401E	possibly damaging	Het
Col9a1	A	G	1: 24,244,147 (GRCm39)	T127A	probably benign	Het
Cpq	T	A	15: 33,212,996 (GRCm39)	F5Y	probably benign	Het
Cuzd1	T	A	7: 130,916,614 (GRCm39)	M282L	probably damaging	Het
Ddx10	C	A	9: 53,115,430 (GRCm39)	D635Y	possibly damaging	Het
Ect2l	T	C	10: 18,037,252 (GRCm39)	D382G	probably damaging	Het
Ganc	T	C	2: 120,290,365 (GRCm39)	S901P	possibly damaging	Het
Gpr179	G	A	11: 97,232,192 (GRCm39)	R671C	probably benign	Het
Isl2	T	C	9: 55,451,504 (GRCm39)	L219P	probably damaging	Het
Mfsd13a	T	C	19: 46,357,733 (GRCm39)	S296P	possibly damaging	Het
Mtmr7	A	T	8: 41,034,461 (GRCm39)	L287Q	probably damaging	Het
Or11g25	T	C	14: 50,723,230 (GRCm39)	F105S	probably damaging	Het
Or52d13	T	G	7: 103,110,221 (GRCm39)	M60L	possibly damaging	Het
Or7a39	A	G	10: 78,715,770 (GRCm39)	T255A	possibly damaging	Het
Or8g28	A	G	9: 39,169,830 (GRCm39)	I46T	probably damaging	Het
Pik3c3	T	A	18: 30,410,155 (GRCm39)	F130I	probably damaging	Het
Rab3gap1	T	A	1: 127,845,958 (GRCm39)	S277R	possibly damaging	Het
Rassf9	A	G	10: 102,381,494 (GRCm39)	K290R	probably benign	Het
Rnaseh2a	A	T	8: 85,691,767 (GRCm39)	V136D	probably damaging	Het
Rnf39	C	T	17: 37,256,328 (GRCm39)	S140L	possibly damaging	Het
Sbno2	A	G	10: 79,893,665 (GRCm39)	V1212A	probably damaging	Het
Slc4a10	A	T	2: 62,021,101 (GRCm39)	I50F	probably damaging	Het
Slfn5	A	T	11: 82,852,157 (GRCm39)	E761V	probably damaging	Het
Sptlc1	A	G	13: 53,531,334 (GRCm39)	Y18H	probably damaging	Het
Tfam	A	G	10: 71,072,805 (GRCm39)	M9T	possibly damaging	Het
Try4	A	T	6: 41,281,960 (GRCm39)	N182I	probably damaging	Het
Vmn1r209	C	T	13: 22,990,450 (GRCm39)	C80Y	probably damaging	Het
Vmn2r104	A	T	17: 20,260,930 (GRCm39)	S498T	probably benign	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
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

2014-02-04