Mutagenetix > Incidental Mutation

Incidental Mutation 'R4366:Tmem200b'

325744

Institutional Source

Beutler Lab

Gene Symbol

Tmem200b

Ensembl Gene

ENSMUSG00000070720

Gene Name

transmembrane protein 200B

Synonyms

EG623230

MMRRC Submission

041114-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R4366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131648511-131650451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131649781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 234 (I234V)

Ref Sequence

ENSEMBL: ENSMUSP00000092253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030739] [ENSMUST00000054917] [ENSMUST00000084253] [ENSMUST00000094666] [ENSMUST00000105970] [ENSMUST00000105972] [ENSMUST00000105974] [ENSMUST00000105975] [ENSMUST00000137846] [ENSMUST00000105981]

AlphaFold

D3Z0P8

Predicted Effect

probably benign
Transcript: ENSMUST00000030739

SMART Domains

Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
low complexity region	594	607	N/A	INTRINSIC
Pfam:SAB	661	709	1.8e-29	PFAM
Pfam:4_1_CTD	741	855	3.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054917

SMART Domains

Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
Pfam:SAB	607	655	2.3e-28	PFAM
Pfam:4_1_CTD	687	801	3.2e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084253

SMART Domains

Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
Pfam:SAB	607	655	2.3e-28	PFAM
Pfam:4_1_CTD	687	801	3.2e-57	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094666
AA Change: I234V

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092253
Gene: ENSMUSG00000070720
AA Change: I234V

Domain	Start	End	E-Value	Type
Pfam:DUF2371	14	92	8.8e-13	PFAM
Pfam:DUF2371	86	131	7.6e-17	PFAM
low complexity region	172	187	N/A	INTRINSIC
low complexity region	204	216	N/A	INTRINSIC
low complexity region	240	250	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105970

SMART Domains

Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
B41	55	250	1.3e-80	SMART
FERM_C	254	344	1.01e-35	SMART
FA	347	393	8.99e-19	SMART
low complexity region	437	459	N/A	INTRINSIC
Pfam:SAB	476	524	1.1e-29	PFAM
Pfam:4_1_CTD	578	636	1.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105972

SMART Domains

Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
low complexity region	594	607	N/A	INTRINSIC
Pfam:SAB	661	709	1.8e-29	PFAM
Pfam:4_1_CTD	741	855	3.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105974

SMART Domains

Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	367	3.77e-50	SMART
FERM_C	371	461	1.01e-35	SMART
FA	464	510	8.99e-19	SMART
Pfam:SAB	572	620	2e-28	PFAM
Pfam:4_1_CTD	652	766	3e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151746

Predicted Effect

probably benign
Transcript: ENSMUST00000105975

SMART Domains

Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	232	427	1.3e-80	SMART
FERM_C	431	521	1.01e-35	SMART
FA	524	570	8.99e-19	SMART
low complexity region	619	632	N/A	INTRINSIC
Pfam:SAB	672	720	3.9e-25	PFAM
Pfam:4_1_CTD	758	865	2.6e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146443

SMART Domains

Protein: ENSMUSP00000122234
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
Pfam:SAB	53	101	7e-26	PFAM
Pfam:4_1_CTD	139	246	2.8e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155990

SMART Domains

Protein: ENSMUSP00000116599
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
Pfam:4_1_CTD	86	193	1.5e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135579

SMART Domains

Protein: ENSMUSP00000121764
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
Pfam:SAB	28	76	2e-24	PFAM
low complexity region	148	159	N/A	INTRINSIC
low complexity region	206	217	N/A	INTRINSIC
Pfam:4_1_CTD	264	371	6.6e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137846

SMART Domains

Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
B41	49	244	1.3e-80	SMART
FERM_C	248	338	1.01e-35	SMART
FA	341	387	8.99e-19	SMART
low complexity region	431	453	N/A	INTRINSIC
Pfam:SAB	470	518	1.2e-29	PFAM
Pfam:4_1_CTD	550	664	2.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105981

SMART Domains

Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
low complexity region	594	607	N/A	INTRINSIC
Pfam:SAB	661	709	1.8e-29	PFAM
Pfam:4_1_CTD	741	855	3.5e-57	PFAM

Meta Mutation Damage Score

0.0661

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	A	C	17: 43,752,860 (GRCm39)	T396P	probably damaging	Het
Apob	A	T	12: 8,066,083 (GRCm39)	I4318F	possibly damaging	Het
Apol7c	T	G	15: 77,410,589 (GRCm39)	D119A	probably benign	Het
App	G	T	16: 84,853,321 (GRCm39)	D252E	unknown	Het
C4a	T	A	17: 35,033,885 (GRCm39)		noncoding transcript	Het
Cacna1b	T	C	2: 24,592,632 (GRCm39)	Y515C	probably damaging	Het
Cacna1f	G	T	X: 7,476,213 (GRCm39)	A123S	probably damaging	Het
Cldn6	G	C	17: 23,900,494 (GRCm39)	A153P	probably benign	Het
Cmya5	T	C	13: 93,228,464 (GRCm39)	N2208S	probably benign	Het
Csnk1g1	A	G	9: 65,927,135 (GRCm39)	T101A	probably benign	Het
Ddx46	T	A	13: 55,811,049 (GRCm39)	D544E	probably benign	Het
Dmxl1	T	A	18: 50,011,084 (GRCm39)	C1080*	probably null	Het
Dst	T	C	1: 34,290,959 (GRCm39)	S3335P	probably damaging	Het
Efnb3	T	C	11: 69,446,771 (GRCm39)	K313R	probably damaging	Het
Elf2	G	A	3: 51,215,570 (GRCm39)	Q47*	probably null	Het
Epc2	A	G	2: 49,437,566 (GRCm39)	K657E	possibly damaging	Het
Ephx4	A	G	5: 107,551,679 (GRCm39)		probably benign	Het
Ereg	T	C	5: 91,234,659 (GRCm39)	I24T	probably benign	Het
Evc2	C	A	5: 37,496,013 (GRCm39)	A41D	possibly damaging	Het
Fkbp15	A	G	4: 62,254,651 (GRCm39)	V283A	probably benign	Het
Flrt3	T	C	2: 140,502,327 (GRCm39)	T434A	probably damaging	Het
Gm572	A	G	4: 148,739,322 (GRCm39)	D50G	possibly damaging	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Hivep3	A	C	4: 119,953,286 (GRCm39)	H534P	possibly damaging	Het
Hspa4l	C	A	3: 40,721,241 (GRCm39)		probably null	Het
Ipo7	T	C	7: 109,628,919 (GRCm39)	M63T	possibly damaging	Het
Ipo7	A	T	7: 109,647,423 (GRCm39)	T614S	possibly damaging	Het
Krt87	T	G	15: 101,385,395 (GRCm39)	M326L	probably benign	Het
Mbd5	T	A	2: 49,162,978 (GRCm39)	N261K	probably damaging	Het
Mcam	T	A	9: 44,045,994 (GRCm39)	L3Q	probably damaging	Het
Mcoln3	C	A	3: 145,846,247 (GRCm39)	T519K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mrgprx1	C	A	7: 47,670,941 (GRCm39)	A269S	probably damaging	Het
Mypn	T	C	10: 63,028,487 (GRCm39)	E192G	probably benign	Het
Nup205	C	A	6: 35,168,962 (GRCm39)	P397Q	probably benign	Het
Obsl1	A	C	1: 75,464,693 (GRCm39)	L1576R	possibly damaging	Het
Ofcc1	A	G	13: 40,168,937 (GRCm39)	S817P	probably benign	Het
Or6c210	A	T	10: 129,496,400 (GRCm39)	M242L	probably benign	Het
Or8b12c	A	T	9: 37,715,486 (GRCm39)	H93L	probably benign	Het
Pcdhgb7	A	G	18: 37,887,125 (GRCm39)	Y765C	possibly damaging	Het
Pde7a	A	G	3: 19,365,026 (GRCm39)		probably null	Het
Phip	C	T	9: 82,782,922 (GRCm39)		probably benign	Het
Rhbdl2	T	A	4: 123,703,728 (GRCm39)	M1K	probably null	Het
Ripor2	C	T	13: 24,905,694 (GRCm39)	P947S	probably benign	Het
Sf3a3	A	G	4: 124,618,932 (GRCm39)	T298A	probably benign	Het
Slc25a29	C	T	12: 108,797,097 (GRCm39)		probably benign	Het
Spinkl	T	G	18: 44,307,650 (GRCm39)	T4P	possibly damaging	Het
Stk33	G	A	7: 108,879,002 (GRCm39)	S449L	probably benign	Het
Suz12	T	A	11: 79,892,988 (GRCm39)		probably benign	Het
Timp2	T	A	11: 118,201,497 (GRCm39)	I124F	probably damaging	Het
Tlr1	C	T	5: 65,083,180 (GRCm39)	D466N	probably benign	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Usp33	C	A	3: 152,074,149 (GRCm39)	Q332K	probably benign	Het
Zfr	A	G	15: 12,156,416 (GRCm39)	E634G	probably damaging	Het

Other mutations in Tmem200b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Tmem200b	APN	4	131,649,704 (GRCm39)	missense	probably benign	0.00
R5062:Tmem200b	UTSW	4	131,649,848 (GRCm39)	missense	probably damaging	0.98
R7098:Tmem200b	UTSW	4	131,649,704 (GRCm39)	missense	probably benign	0.10
R8750:Tmem200b	UTSW	4	131,649,406 (GRCm39)	missense	probably damaging	0.99
R8982:Tmem200b	UTSW	4	131,649,668 (GRCm39)	missense	probably damaging	1.00
R9627:Tmem200b	UTSW	4	131,649,437 (GRCm39)	missense	probably damaging	1.00
R9747:Tmem200b	UTSW	4	131,649,359 (GRCm39)	missense	possibly damaging	0.53
X0057:Tmem200b	UTSW	4	131,649,628 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCCGAAACTTGGGACCTG -3'
(R):5'- ACAATATCCATCCTAGCCTCGGAG -3'

Sequencing Primer
(F):5'- AAACTTGGGACCTGGCCCC -3'
(R):5'- TGGTAGCCTCACAGCAGGTTATAC -3'

Posted On

2015-07-06