Mutagenetix > Incidental Mutation

Incidental Mutation 'R4430:Tmem201'

328556

Institutional Source

Beutler Lab

Gene Symbol

Tmem201

Ensembl Gene

ENSMUSG00000044700

Gene Name

transmembrane protein 201

Synonyms

Samp1, D4Ertd429e

MMRRC Submission

041700-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.433) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149799832-149822501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 149815596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 118 (V118G)

Ref Sequence

ENSEMBL: ENSMUSP00000101312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054459] [ENSMUST00000103208] [ENSMUST00000105687]

AlphaFold

A2A8U2

Predicted Effect

probably benign
Transcript: ENSMUST00000054459
AA Change: V118G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000050481
Gene: ENSMUSG00000044700
AA Change: V118G

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Ima1_N	46	171	2.6e-43	PFAM
Pfam:DUF2448	191	392	4.4e-102	PFAM
low complexity region	433	455	N/A	INTRINSIC
low complexity region	486	521	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103208
AA Change: V118G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099497
Gene: ENSMUSG00000044700
AA Change: V118G

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Ima1_N	46	171	1.1e-43	PFAM
Pfam:DUF2448	191	392	2.1e-103	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105687
AA Change: V118G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101312
Gene: ENSMUSG00000044700
AA Change: V118G

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Ima1_N	46	171	2.4e-39	PFAM
Pfam:DUF2448	191	389	3.1e-96	PFAM
low complexity region	433	455	N/A	INTRINSIC
low complexity region	486	521	N/A	INTRINSIC
transmembrane domain	638	660	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145405

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,963,348 (GRCm39)	N926S	unknown	Het
Ahi1	T	A	10: 20,847,977 (GRCm39)	C462S	probably damaging	Het
Ahnak	A	G	19: 8,980,404 (GRCm39)	I563V	probably benign	Het
Ankrd55	G	A	13: 112,459,717 (GRCm39)		probably null	Het
Bag3	A	G	7: 128,125,647 (GRCm39)	D22G	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705 (GRCm39)	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,198,004 (GRCm39)	I166T	probably benign	Het
Dnah11	T	C	12: 117,946,746 (GRCm39)	I3113V	probably benign	Het
Gli2	T	C	1: 118,764,974 (GRCm39)	H1059R	probably benign	Het
Gm14412	C	A	2: 177,007,625 (GRCm39)	S90I	probably benign	Het
L1td1	A	G	4: 98,625,388 (GRCm39)	R528G	probably benign	Het
Mcm3	A	T	1: 20,882,217 (GRCm39)	L449*	probably null	Het
Mif4gd	T	C	11: 115,499,328 (GRCm39)	T185A	probably benign	Het
Mphosph9	T	C	5: 124,403,509 (GRCm39)	S840G	possibly damaging	Het
Nherf4	C	T	9: 44,161,041 (GRCm39)	S175N	probably benign	Het
Nim1k	C	A	13: 120,174,078 (GRCm39)	R272L	possibly damaging	Het
Or5b104	C	T	19: 13,072,452 (GRCm39)	V187I	probably benign	Het
Or6c213	T	A	10: 129,574,130 (GRCm39)	I219F	probably damaging	Het
Or8k32	A	G	2: 86,368,731 (GRCm39)	I176T	probably damaging	Het
Pax3	A	G	1: 78,171,961 (GRCm39)	V83A	probably damaging	Het
Pde3b	C	T	7: 114,133,905 (GRCm39)	P974S	probably damaging	Het
Pglyrp3	T	A	3: 91,938,798 (GRCm39)	D324E	probably damaging	Het
Pus7	A	G	5: 23,951,487 (GRCm39)	Y521H	probably benign	Het
Ryr2	A	G	13: 11,750,413 (GRCm39)	S1953P	probably damaging	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sox5	A	G	6: 143,987,000 (GRCm39)	I188T	possibly damaging	Het
Spata4	T	C	8: 55,054,878 (GRCm39)	I86T	probably benign	Het
Ssc5d	T	C	7: 4,946,663 (GRCm39)	S1006P	probably benign	Het
Stk10	T	C	11: 32,483,552 (GRCm39)	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 132,849,972 (GRCm39)	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,826,262 (GRCm39)	N412Y	probably damaging	Het
Tert	T	A	13: 73,775,594 (GRCm39)	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem67	T	A	4: 12,051,473 (GRCm39)	N785I	possibly damaging	Het
Trhde	A	T	10: 114,339,028 (GRCm39)	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,401,951 (GRCm39)	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,614,817 (GRCm39)	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,519,449 (GRCm39)	M503K	probably benign	Het
Zfp54	T	G	17: 21,655,222 (GRCm39)	V572G	probably damaging	Het

Other mutations in Tmem201

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Tmem201	APN	4	149,804,045 (GRCm39)	splice site	probably benign
R0508:Tmem201	UTSW	4	149,816,343 (GRCm39)	missense	probably damaging	1.00
R0717:Tmem201	UTSW	4	149,803,267 (GRCm39)	missense	probably damaging	1.00
R1660:Tmem201	UTSW	4	149,804,032 (GRCm39)	missense	probably damaging	1.00
R2138:Tmem201	UTSW	4	149,802,537 (GRCm39)	missense	probably damaging	1.00
R2971:Tmem201	UTSW	4	149,806,902 (GRCm39)	splice site	probably benign
R4704:Tmem201	UTSW	4	149,811,774 (GRCm39)	missense	possibly damaging	0.77
R4876:Tmem201	UTSW	4	149,806,727 (GRCm39)	missense	probably damaging	1.00
R4966:Tmem201	UTSW	4	149,803,144 (GRCm39)	missense	probably benign
R4991:Tmem201	UTSW	4	149,812,612 (GRCm39)	missense	possibly damaging	0.95
R5518:Tmem201	UTSW	4	149,802,534 (GRCm39)	missense	probably benign
R5818:Tmem201	UTSW	4	149,811,849 (GRCm39)	missense	probably benign	0.33
R7399:Tmem201	UTSW	4	149,815,554 (GRCm39)	missense	possibly damaging	0.95
R8142:Tmem201	UTSW	4	149,803,114 (GRCm39)	missense	probably benign
R8170:Tmem201	UTSW	4	149,803,177 (GRCm39)	missense	probably benign	0.29
R8294:Tmem201	UTSW	4	149,815,554 (GRCm39)	missense	possibly damaging	0.95
R8513:Tmem201	UTSW	4	149,812,380 (GRCm39)	missense	probably damaging	0.99
R8808:Tmem201	UTSW	4	149,814,138 (GRCm39)	missense	possibly damaging	0.79
R9026:Tmem201	UTSW	4	149,812,627 (GRCm39)	missense	probably benign	0.08
X0064:Tmem201	UTSW	4	149,802,528 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TCTCCCAGTGGTCACAAGATC -3'
(R):5'- AAAGCCAGAGCAGAGCTGTC -3'

Sequencing Primer
(F):5'- TGGTCACAAGATCAGCTCG -3'
(R):5'- AGAGCTGTCTGCATCTGAAC -3'

Posted On

2015-07-21