Mutagenetix > Incidental Mutation

Incidental Mutation 'R8982:Tmem200b'

683765

Institutional Source

Beutler Lab

Gene Symbol

Tmem200b

Ensembl Gene

ENSMUSG00000070720

Gene Name

transmembrane protein 200B

Synonyms

EG623230

MMRRC Submission

068815-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

R8982 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131648511-131650451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131649668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 196 (L196Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092253 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000094666
AA Change: L196Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092253
Gene: ENSMUSG00000070720
AA Change: L196Q

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

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: 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

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,677,485 (GRCm39)	N493S	probably benign	Het
Actg2	T	C	6: 83,497,697 (GRCm39)	D185G	probably benign	Het
Alpk3	A	G	7: 80,748,750 (GRCm39)	N1439S	probably damaging	Het
Arid1b	T	A	17: 5,293,316 (GRCm39)	S745T	probably damaging	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,093,420 (GRCm39)		probably benign	Het
C4b	A	G	17: 34,953,338 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,195,533 (GRCm39)	S79P	probably damaging	Het
Cep295nl	A	T	11: 118,224,671 (GRCm39)	W58R	probably damaging	Het
Ces2f	T	A	8: 105,679,667 (GRCm39)	C387S	probably benign	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Ckap5	T	C	2: 91,437,923 (GRCm39)	V1668A	possibly damaging	Het
Clock	A	G	5: 76,364,559 (GRCm39)	V852A	unknown	Het
Col22a1	A	G	15: 71,845,487 (GRCm39)		probably null	Het
Copb2	T	C	9: 98,456,164 (GRCm39)	S233P	probably damaging	Het
Dnah3	T	C	7: 119,536,294 (GRCm39)	Y684C	probably damaging	Het
Dnah7a	T	C	1: 53,570,301 (GRCm39)	E1835G	probably benign	Het
F830045P16Rik	T	A	2: 129,314,812 (GRCm39)	Q155L	probably damaging	Het
Fhad1	T	C	4: 141,729,895 (GRCm39)	D36G	probably damaging	Het
Hectd4	T	C	5: 121,466,305 (GRCm39)	V2412A	probably benign	Het
Hoxa13	T	A	6: 52,235,916 (GRCm39)	K210*	probably null	Het
Hoxc5	T	C	15: 102,923,740 (GRCm39)	Y179H	probably damaging	Het
Hrob	G	A	11: 102,146,110 (GRCm39)	A129T	probably benign	Het
Htr1d	A	T	4: 136,170,866 (GRCm39)	Q365L	possibly damaging	Het
Krt72	C	T	15: 101,690,059 (GRCm39)	V253M	possibly damaging	Het
Mecom	G	A	3: 30,017,255 (GRCm39)	T470I	probably damaging	Het
Nefh	G	A	11: 4,897,549 (GRCm39)	A129V	probably damaging	Het
Nlrp2	T	A	7: 5,327,978 (GRCm39)	I692F	probably damaging	Het
Nr6a1	T	A	2: 38,762,613 (GRCm39)	I61L	probably benign	Het
Or10aa1	T	G	1: 173,870,188 (GRCm39)	V224G	probably damaging	Het
Or10j2	G	A	1: 173,098,306 (GRCm39)	C188Y	probably damaging	Het
Or5d18	A	T	2: 87,864,613 (GRCm39)	I290K	probably damaging	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Pkhd1l1	T	A	15: 44,387,069 (GRCm39)	L1314*	probably null	Het
Pogz	G	A	3: 94,786,879 (GRCm39)	V1156M	probably damaging	Het
Pramel23	T	G	4: 143,424,886 (GRCm39)	I186L	probably benign	Het
Prrc2b	T	A	2: 32,102,134 (GRCm39)	C736S	probably damaging	Het
Psg18	T	A	7: 18,083,300 (GRCm39)	H285L	probably benign	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Ptprk	A	T	10: 28,436,138 (GRCm39)	D833V	probably damaging	Het
Rfx6	G	A	10: 51,599,915 (GRCm39)	V554M	probably benign	Het
Rimbp3	A	G	16: 17,027,511 (GRCm39)	T312A	probably benign	Het
Slfn5	G	A	11: 82,850,966 (GRCm39)	W421*	probably null	Het
Srcin1	A	G	11: 97,426,624 (GRCm39)	I291T	probably damaging	Het
Sult3a2	T	C	10: 33,658,069 (GRCm39)	N15D	probably damaging	Het
Tmem179	A	T	12: 112,468,301 (GRCm39)	L193Q	probably damaging	Het
Trim71	T	C	9: 114,342,804 (GRCm39)	T493A	possibly damaging	Het
Trp53bp2	T	A	1: 182,263,001 (GRCm39)		probably null	Het
Zbtb47	A	G	9: 121,592,334 (GRCm39)	E218G	probably benign	Het
Zbtb7c	G	A	18: 76,279,344 (GRCm39)	G601S	probably damaging	Het
Zdhhc3	A	G	9: 122,929,578 (GRCm39)	L19P	probably benign	Het
Zfp385b	G	T	2: 77,242,300 (GRCm39)	T473K	probably damaging	Het
Zfp804a	A	G	2: 82,066,172 (GRCm39)	K48E	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
R4366:Tmem200b	UTSW	4	131,649,781 (GRCm39)	missense	possibly damaging	0.53
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
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'- ACACATTGCTCTACGAGAACCG -3'
(R):5'- CCAAATCTCCGCCTAATTTGG -3'

Sequencing Primer
(F):5'- TCTACGAGAACCGCGACCTG -3'
(R):5'- AAACTGAGTCGGTCCAGCC -3'

Posted On

2021-10-11