Mutagenetix > Incidental Mutation

Incidental Mutation 'R5178:Tmem200a'

399488

Institutional Source

Beutler Lab

Gene Symbol

Tmem200a

Ensembl Gene

ENSMUSG00000049420

Gene Name

transmembrane protein 200A

Synonyms

C030003D03Rik

MMRRC Submission

042758-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25867080-25955713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25870277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 4 (Q4H)

Ref Sequence

ENSEMBL: ENSMUSP00000151559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066049] [ENSMUST00000218232] [ENSMUST00000219338] [ENSMUST00000219651] [ENSMUST00000219872]

AlphaFold

Q8C817

Predicted Effect

probably benign
Transcript: ENSMUST00000066049

SMART Domains

Protein: ENSMUSP00000064080
Gene: ENSMUSG00000049420

Domain	Start	End	E-Value	Type
Pfam:DUF2371	16	161	8.9e-62	PFAM
low complexity region	262	279	N/A	INTRINSIC
low complexity region	387	401	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217910

Predicted Effect

probably benign
Transcript: ENSMUST00000218232

Predicted Effect

probably benign
Transcript: ENSMUST00000219338

Predicted Effect

probably benign
Transcript: ENSMUST00000219651

Predicted Effect

probably benign
Transcript: ENSMUST00000219872
AA Change: Q4H

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	G	T	13: 23,606,819 (GRCm39)	A94E	possibly damaging	Het
Carmil2	G	T	8: 106,423,521 (GRCm39)	G1207V	probably damaging	Het
Cndp2	A	T	18: 84,693,153 (GRCm39)	N202K	probably benign	Het
Cyp2c66	A	G	19: 39,159,473 (GRCm39)	Y308C	probably damaging	Het
Dhx29	T	G	13: 113,069,134 (GRCm39)	S155A	possibly damaging	Het
Dnah7b	T	G	1: 46,397,376 (GRCm39)	F3936V	possibly damaging	Het
Dsg1b	G	A	18: 20,530,560 (GRCm39)	G405E	probably damaging	Het
Exo5	A	T	4: 120,778,734 (GRCm39)		probably null	Het
Fam171b	T	C	2: 83,710,331 (GRCm39)	F668L	probably damaging	Het
Gemin5	A	T	11: 58,037,344 (GRCm39)	S624T	probably benign	Het
Gpc2	C	A	5: 138,273,867 (GRCm39)	V444L	possibly damaging	Het
Hephl1	T	A	9: 14,997,468 (GRCm39)	K399N	probably damaging	Het
Lair1	G	A	7: 4,013,488 (GRCm39)	T82I	possibly damaging	Het
Lhx1	G	T	11: 84,411,214 (GRCm39)	A155E	possibly damaging	Het
Maip1	G	A	1: 57,454,849 (GRCm39)	D278N	probably benign	Het
Mcm4	T	A	16: 15,453,167 (GRCm39)	D174V	probably benign	Het
Mcph1	T	A	8: 18,657,342 (GRCm39)	D60E	probably damaging	Het
Mmp17	T	A	5: 129,672,122 (GRCm39)	W132R	probably damaging	Het
Or4p7	C	T	2: 88,221,819 (GRCm39)	T76I	possibly damaging	Het
Or7e174	T	A	9: 20,012,488 (GRCm39)	C144*	probably null	Het
Pds5a	T	C	5: 65,821,218 (GRCm39)	T169A	probably damaging	Het
Pfkm	A	G	15: 98,029,396 (GRCm39)	N697D	probably benign	Het
Pira1	T	A	7: 3,742,396 (GRCm39)	K44*	probably null	Het
Ppwd1	A	T	13: 104,356,943 (GRCm39)	S191T	probably benign	Het
Ranbp2	T	A	10: 58,312,607 (GRCm39)	M1109K	probably benign	Het
Robo4	T	C	9: 37,319,256 (GRCm39)	W535R	probably damaging	Het
Rsf1	A	G	7: 97,311,079 (GRCm39)	D603G	possibly damaging	Het
Slc22a26	T	C	19: 7,767,540 (GRCm39)	T289A	possibly damaging	Het
Sp2	A	G	11: 96,846,664 (GRCm39)	F554L	probably benign	Het
Sp4	A	G	12: 118,225,624 (GRCm39)	V580A	possibly damaging	Het
Tbc1d19	T	A	5: 54,046,667 (GRCm39)	S413T	possibly damaging	Het
Tecta	T	C	9: 42,286,481 (GRCm39)	D725G	probably damaging	Het
Tpx2	T	A	2: 152,717,469 (GRCm39)	I122N	probably benign	Het
Trgc4	A	G	13: 19,528,932 (GRCm39)		probably benign	Het
Ube4b	T	C	4: 149,427,449 (GRCm39)	M900V	probably damaging	Het
Vmn1r87	G	T	7: 12,865,792 (GRCm39)	A165E	possibly damaging	Het
Vmn2r95	A	G	17: 18,660,337 (GRCm39)	T250A	probably benign	Het
Wasf1	G	A	10: 40,813,672 (GRCm39)	R518H	unknown	Het
Zfhx2	A	T	14: 55,312,232 (GRCm39)	F154Y	probably benign	Het
Zfp729a	A	G	13: 67,785,764 (GRCm39)		probably null	Het
Zfp976	A	G	7: 42,261,925 (GRCm39)		probably null	Het

Other mutations in Tmem200a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Tmem200a	APN	10	25,870,041 (GRCm39)	missense	probably damaging	0.98
IGL02323:Tmem200a	APN	10	25,869,328 (GRCm39)	missense	probably benign	0.12
IGL02702:Tmem200a	APN	10	25,869,501 (GRCm39)	missense	probably damaging	1.00
IGL03221:Tmem200a	APN	10	25,869,922 (GRCm39)	missense	possibly damaging	0.54
R0467:Tmem200a	UTSW	10	25,870,002 (GRCm39)	missense	probably benign	0.09
R1169:Tmem200a	UTSW	10	25,870,246 (GRCm39)	missense	probably damaging	1.00
R1543:Tmem200a	UTSW	10	25,954,518 (GRCm39)	unclassified	probably benign
R1555:Tmem200a	UTSW	10	25,869,782 (GRCm39)	missense	probably damaging	1.00
R1630:Tmem200a	UTSW	10	25,868,812 (GRCm39)	missense	probably damaging	1.00
R1693:Tmem200a	UTSW	10	25,869,877 (GRCm39)	missense	possibly damaging	0.94
R1786:Tmem200a	UTSW	10	25,869,825 (GRCm39)	missense	probably damaging	1.00
R1891:Tmem200a	UTSW	10	25,869,970 (GRCm39)	missense	probably damaging	1.00
R2113:Tmem200a	UTSW	10	25,869,220 (GRCm39)	missense	probably damaging	1.00
R2260:Tmem200a	UTSW	10	25,869,313 (GRCm39)	missense	probably benign
R3793:Tmem200a	UTSW	10	25,870,087 (GRCm39)	missense	probably damaging	1.00
R5062:Tmem200a	UTSW	10	25,869,813 (GRCm39)	missense	probably damaging	1.00
R5195:Tmem200a	UTSW	10	25,954,854 (GRCm39)	unclassified	probably benign
R5208:Tmem200a	UTSW	10	25,870,051 (GRCm39)	missense	probably benign	0.00
R6045:Tmem200a	UTSW	10	25,868,905 (GRCm39)	missense	probably damaging	1.00
R6319:Tmem200a	UTSW	10	25,869,393 (GRCm39)	missense	probably damaging	1.00
R6552:Tmem200a	UTSW	10	25,869,381 (GRCm39)	missense	probably damaging	1.00
R7797:Tmem200a	UTSW	10	25,869,864 (GRCm39)	missense	possibly damaging	0.95
R7961:Tmem200a	UTSW	10	25,869,904 (GRCm39)	missense	probably damaging	1.00
R7989:Tmem200a	UTSW	10	25,869,955 (GRCm39)	missense	probably benign
R8009:Tmem200a	UTSW	10	25,869,904 (GRCm39)	missense	probably damaging	1.00
R8074:Tmem200a	UTSW	10	25,868,850 (GRCm39)	missense	probably damaging	1.00
R9254:Tmem200a	UTSW	10	25,869,654 (GRCm39)	missense	probably damaging	1.00
R9358:Tmem200a	UTSW	10	25,869,677 (GRCm39)	missense	probably benign	0.20

Predicted Primers

Posted On

2016-07-06