Mutagenetix > Incidental Mutations

Incidental Mutation 'R1301:Tmem206'

158344

Institutional Source

Beutler Lab

Gene Symbol

Tmem206

Ensembl Gene

ENSMUSG00000026627

Gene Name

transmembrane protein 206

Synonyms

2310028N02Rik

MMRRC Submission

039367-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R1301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

191325912-191350914 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 191348435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 284 (V284A)

Ref Sequence

ENSEMBL: ENSMUSP00000027940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027940] [ENSMUST00000067976]

AlphaFold

Q9D771

Predicted Effect

probably damaging
Transcript: ENSMUST00000027940
AA Change: V284A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027940
Gene: ENSMUSG00000026627
AA Change: V284A

Domain	Start	End	E-Value	Type
coiled coil region	2	36	N/A	INTRINSIC
Pfam:TMEM206	55	349	7.2e-173	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067976

SMART Domains

Protein: ENSMUSP00000070726
Gene: ENSMUSG00000026626

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	30	51	N/A	INTRINSIC
Pfam:B56	56	462	3.6e-193	PFAM

Meta Mutation Damage Score

0.5951

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.3%
20x: 82.6%

Validation Efficiency

96% (67/70)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	A	G	7: 144,633,689	W447R	possibly damaging	Het
Blm	T	A	7: 80,455,417	K103*	probably null	Het
Camta2	A	G	11: 70,676,404	I675T	probably benign	Het
Catsperz	G	A	19: 6,925,082	R15C	probably damaging	Het
Chd1l	T	C	3: 97,603,648		probably benign	Het
Corin	C	A	5: 72,304,933	E844D	possibly damaging	Het
Cyb5rl	T	G	4: 107,080,907	M127R	probably damaging	Het
Dcdc2a	A	T	13: 25,102,586	N164I	possibly damaging	Het
Dnah6	A	G	6: 73,208,545		probably null	Het
Emilin2	T	C	17: 71,255,965		probably benign	Het
Epb41l2	T	A	10: 25,443,902	V211D	probably damaging	Het
Fbxo47	C	T	11: 97,868,601	M166I	probably benign	Het
Gm13124	T	A	4: 144,565,065	I24L	probably benign	Het
Gm4450	G	A	3: 98,446,866	Q106*	probably null	Het
Golm1	T	C	13: 59,638,373	D335G	probably damaging	Het
Gpn1	T	A	5: 31,503,429	M188K	probably damaging	Het
Gpr84	T	A	15: 103,309,219	S144C	probably damaging	Het
Grm8	G	T	6: 27,981,201	Q237K	possibly damaging	Het
Gsdmd	C	A	15: 75,867,059		probably null	Het
Hmgcr	G	A	13: 96,659,020	T347I	probably damaging	Het
Hsd17b7	T	A	1: 169,961,205		probably benign	Het
Klhl7	T	G	5: 24,159,491	W508G	probably damaging	Het
Lrp2	C	A	2: 69,428,604	D4581Y	probably damaging	Het
Lrrc7	T	C	3: 158,135,331	N1357D	probably benign	Het
Macf1	T	C	4: 123,486,658		probably benign	Het
Mroh7	T	C	4: 106,720,495	T329A	probably damaging	Het
Mroh9	C	T	1: 163,043,983		probably null	Het
Mta2	A	G	19: 8,949,186		probably benign	Het
Myo3a	A	T	2: 22,267,095		probably benign	Het
Nrip2	A	G	6: 128,407,389	D153G	probably benign	Het
Nup133	T	C	8: 123,917,417		probably benign	Het
Nup210	C	T	6: 91,042,347	V259M	possibly damaging	Het
Olfr1338	C	T	4: 118,753,619	M308I	probably benign	Het
Olfr1466	A	T	19: 13,341,847	I30F	probably benign	Het
Olfr1499	A	T	19: 13,815,362	V76D	probably damaging	Het
Otog	C	T	7: 46,289,689	R2048C	probably damaging	Het
Paqr7	T	C	4: 134,507,813	L327P	probably damaging	Het
Parl	A	G	16: 20,286,926	S249P	probably damaging	Het
Phc1	A	G	6: 122,325,874	I230T	probably benign	Het
Pitpnm1	T	G	19: 4,110,831		probably null	Het
Plpp1	A	G	13: 112,834,943	Y48C	probably damaging	Het
Pxdc1	A	G	13: 34,628,887	F194L	probably benign	Het
Rp1	A	T	1: 4,345,936	V1651D	possibly damaging	Het
Serpinb1c	T	A	13: 32,896,960	R47*	probably null	Het
Sis	T	C	3: 72,946,582	T521A	possibly damaging	Het
Slc16a9	A	G	10: 70,282,478	D209G	probably benign	Het
Slc26a4	A	T	12: 31,525,568	C706*	probably null	Het
Slc37a2	A	G	9: 37,236,881	V325A	probably benign	Het
Speg	T	A	1: 75,401,501	D784E	probably damaging	Het
Sycp1	T	C	3: 102,920,622	I270V	probably benign	Het
Tatdn2	T	A	6: 113,704,115	F309I	probably damaging	Het
Tmem67	T	C	4: 12,089,400		probably benign	Het
Trpm1	T	A	7: 64,203,053		probably null	Het
Wrn	T	C	8: 33,292,686	R496G	probably damaging	Het
Zfhx2	A	G	14: 55,063,397	V2299A	probably benign	Het
Zfp819	T	A	7: 43,617,100	S260T	possibly damaging	Het

Other mutations in Tmem206

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Tmem206	APN	1	191328208	missense	unknown
IGL02318:Tmem206	APN	1	191348408	missense	possibly damaging	0.90
IGL03180:Tmem206	APN	1	191338892	missense	probably damaging	1.00
R1445:Tmem206	UTSW	1	191348362	unclassified	probably benign
R1463:Tmem206	UTSW	1	191328289	splice site	probably benign
R1610:Tmem206	UTSW	1	191345065	missense	probably benign	0.04
R2149:Tmem206	UTSW	1	191345109	missense	probably benign	0.04
R4418:Tmem206	UTSW	1	191348432	missense	probably damaging	1.00
R4825:Tmem206	UTSW	1	191340843	missense	probably damaging	0.97
R5274:Tmem206	UTSW	1	191348468	missense	probably damaging	0.99
R5842:Tmem206	UTSW	1	191346789	missense	probably damaging	1.00
R5956:Tmem206	UTSW	1	191348371	missense	probably damaging	1.00
R6031:Tmem206	UTSW	1	191340840	missense	probably benign	0.09
R6031:Tmem206	UTSW	1	191340840	missense	probably benign	0.09
R7500:Tmem206	UTSW	1	191346713	splice site	probably null
R7670:Tmem206	UTSW	1	191340868	missense	probably benign	0.19
R9331:Tmem206	UTSW	1	191345121	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCAAAGGATGCTGTTAGGAGAGCC -3'
(R):5'- ATCTTCGTAAGCCTCAAGCCTTCAC -3'

Sequencing Primer
(F):5'- GGGCTAGTAGTCCTGCCTG -3'
(R):5'- GAGTGACAGCAAAATATGTCTGTCTC -3'

Posted On

2014-02-18