Mutagenetix > Incidental Mutation

Incidental Mutation 'R1693:Tmem200a'

191943

Institutional Source

Beutler Lab

Gene Symbol

Tmem200a

Ensembl Gene

ENSMUSG00000049420

Gene Name

transmembrane protein 200A

Synonyms

C030003D03Rik

MMRRC Submission

039726-MU

Accession Numbers

Essential gene?

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

Stock #

R1693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25867080-25955713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25869877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 131 (F131L)

Ref Sequence

ENSEMBL: ENSMUSP00000151494 (fasta)

Gene Model

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

AlphaFold

Q8C817

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066049
AA Change: F131L

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000064080
Gene: ENSMUSG00000049420
AA Change: F131L

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

possibly damaging
Transcript: ENSMUST00000218232
AA Change: F131L

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219338
AA Change: F131L

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219651
AA Change: F131L

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000219872

Meta Mutation Damage Score

0.1393

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.2%
20x: 92.2%

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	A	G	11: 53,287,380 (GRCm39)	D378G	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Aox1	T	C	1: 58,124,701 (GRCm39)	Y981H	probably damaging	Het
Arfgap2	T	A	2: 91,100,420 (GRCm39)		probably null	Het
Ccnf	TGGGGG	TGGGGGGG	17: 24,445,514 (GRCm39)		probably null	Het
Cd53	T	C	3: 106,676,205 (GRCm39)	N54S	possibly damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Cfap91	A	G	16: 38,162,085 (GRCm39)	Y19H	probably benign	Het
Chd7	T	C	4: 8,864,307 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,309,625 (GRCm39)	L497P	probably damaging	Het
Colec12	G	A	18: 9,866,765 (GRCm39)	V659M	unknown	Het
Creb3	C	A	4: 43,566,755 (GRCm39)	H390Q	probably damaging	Het
D1Pas1	T	C	1: 186,700,226 (GRCm39)	F52L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,441 (GRCm39)	F985L	probably damaging	Het
Dock4	C	T	12: 40,884,721 (GRCm39)	P1742S	probably benign	Het
Ehmt2	G	T	17: 35,125,386 (GRCm39)	V534L	possibly damaging	Het
Epcam	A	G	17: 87,947,324 (GRCm39)	D26G	probably benign	Het
F2	C	T	2: 91,459,524 (GRCm39)	V420M	probably damaging	Het
Fbxw16	A	T	9: 109,265,327 (GRCm39)	D401E	possibly damaging	Het
Fiz1	T	C	7: 5,011,727 (GRCm39)	T264A	probably benign	Het
Fsbp	T	C	4: 11,583,745 (GRCm39)	V148A	probably benign	Het
Furin	A	G	7: 80,042,230 (GRCm39)	L455P	probably damaging	Het
Ggt7	G	A	2: 155,348,395 (GRCm39)	R10W	probably damaging	Het
Gucy2g	T	C	19: 55,211,358 (GRCm39)	E624G	probably damaging	Het
Igf2r	A	G	17: 12,923,203 (GRCm39)	F1202S	probably damaging	Het
Ikzf1	C	T	11: 11,657,838 (GRCm39)	P32S	probably damaging	Het
Itgal	G	A	7: 126,904,453 (GRCm39)	V309M	probably damaging	Het
Kcnk5	C	A	14: 20,191,964 (GRCm39)	R399L	probably damaging	Het
Kdm5b	C	T	1: 134,525,314 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Lrp4	T	C	2: 91,322,698 (GRCm39)	Y1096H	probably damaging	Het
Lrrc7	C	G	3: 157,790,170 (GRCm39)	S1465T	possibly damaging	Het
Map3k5	A	G	10: 19,979,988 (GRCm39)	N832S	probably damaging	Het
Mrtfb	C	A	16: 13,216,334 (GRCm39)	L349I	possibly damaging	Het
Mrtfb	T	A	16: 13,216,335 (GRCm39)	L349Q	probably damaging	Het
Myh13	A	C	11: 67,232,310 (GRCm39)	M495L	possibly damaging	Het
Myh9	A	C	15: 77,697,097 (GRCm39)	Y106D	probably damaging	Het
Naa16	A	T	14: 79,588,896 (GRCm39)	W452R	probably damaging	Het
Nsd1	T	C	13: 55,395,074 (GRCm39)	S892P	probably benign	Het
Nup205	A	G	6: 35,187,906 (GRCm39)	I939V	probably benign	Het
Oit3	A	G	10: 59,261,239 (GRCm39)	F476S	probably damaging	Het
Or7e174	T	C	9: 20,012,883 (GRCm39)	V276A	probably benign	Het
Panx3	A	T	9: 37,580,203 (GRCm39)	M50K	possibly damaging	Het
Panx3	A	C	9: 37,580,242 (GRCm39)	M37R	possibly damaging	Het
Pip4p2	T	A	4: 14,886,631 (GRCm39)	D68E	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkaca	T	A	8: 84,707,827 (GRCm39)	D37E	probably benign	Het
Prkcq	T	A	2: 11,259,010 (GRCm39)	I310N	probably damaging	Het
Prrc2c	A	G	1: 162,546,282 (GRCm39)	Y235H	probably damaging	Het
Ptprj	A	T	2: 90,280,141 (GRCm39)	C1052*	probably null	Het
Rad52	C	A	6: 119,892,996 (GRCm39)	P180Q	probably damaging	Het
Sdhaf3	T	A	6: 7,038,964 (GRCm39)	D95E	probably benign	Het
Slitrk6	A	G	14: 110,988,360 (GRCm39)	I449T	probably damaging	Het
Spata7	T	A	12: 98,630,516 (GRCm39)	M358K	possibly damaging	Het
Tada2a	C	T	11: 83,972,895 (GRCm39)	G178D	probably damaging	Het
Tap2	G	C	17: 34,428,186 (GRCm39)	V287L	probably benign	Het
Traip	A	T	9: 107,847,229 (GRCm39)	K356M	probably damaging	Het
Tspan8	T	A	10: 115,679,949 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,393,913 (GRCm39)	M1K	probably null	Het
Vars1	A	T	17: 35,217,172 (GRCm39)	D427E	probably benign	Het
Vmn1r113	G	A	7: 20,521,532 (GRCm39)	C108Y	probably damaging	Het
Vmn2r63	T	A	7: 42,577,743 (GRCm39)	Q265L	probably benign	Het
Vps33b	T	A	7: 79,937,641 (GRCm39)	V463E	probably damaging	Het
Vrtn	T	C	12: 84,695,429 (GRCm39)	S60P	probably benign	Het
Zfp53	T	A	17: 21,729,884 (GRCm39)	V639D	possibly damaging	Het
Zfp964	T	A	8: 70,116,800 (GRCm39)	S466T	possibly damaging	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
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
R5178:Tmem200a	UTSW	10	25,870,277 (GRCm39)	missense	probably benign	0.02
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

PCR Primer
(F):5'- GCGTATAGGCCATTTGCCTGCTTC -3'
(R):5'- TGCCTGCTACCCAGGATCAGAAAC -3'

Sequencing Primer
(F):5'- CTGCTCCTTGAGTCTCAGAG -3'
(R):5'- GGTGTCCATCATAGGAATCGC -3'

Posted On

2014-05-14