Mutagenetix > Incidental Mutation

Incidental Mutation 'R3897:Tmem203'

309003

Institutional Source

Beutler Lab

Gene Symbol

Tmem203

Ensembl Gene

ENSMUSG00000078201

Gene Name

transmembrane protein 203

Synonyms

C730025P13Rik

MMRRC Submission

040808-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25145451-25146304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25145935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 85 (F85S)

Ref Sequence

ENSEMBL: ENSMUSP00000100614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100329] [ENSMUST00000104998] [ENSMUST00000114349] [ENSMUST00000132128] [ENSMUST00000147866] [ENSMUST00000228052] [ENSMUST00000148589]

AlphaFold

Q8R235

Predicted Effect

probably benign
Transcript: ENSMUST00000100329

SMART Domains

Protein: ENSMUSP00000097903
Gene: ENSMUSG00000006471

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_1	8	124	2.3e-23	PFAM
Pfam:FAD_binding_1	134	354	8e-50	PFAM
Pfam:NAD_binding_1	389	495	2.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104998
AA Change: F85S

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100614
Gene: ENSMUSG00000078201
AA Change: F85S

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	79	101	N/A	INTRINSIC
transmembrane domain	111	130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114349

SMART Domains

Protein: ENSMUSP00000109989
Gene: ENSMUSG00000006471

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_1	8	145	2.3e-32	PFAM
Pfam:FAD_binding_1	201	421	2e-48	PFAM
Pfam:NAD_binding_1	456	561	1.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132128

SMART Domains

Protein: ENSMUSP00000125018
Gene: ENSMUSG00000006471

Domain	Start	End	E-Value	Type
PDB:4H2D\|B	1	48	2e-9	PDB
SCOP:d1f4pa_	4	57	4e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137355

Predicted Effect

probably benign
Transcript: ENSMUST00000141808

SMART Domains

Protein: ENSMUSP00000123247
Gene: ENSMUSG00000006471

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_1	7	120	8.1e-25	PFAM
Pfam:FAD_binding_1	167	225	9.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147866

SMART Domains

Protein: ENSMUSP00000125259
Gene: ENSMUSG00000006471

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	64	73	N/A	INTRINSIC
Pfam:Flavodoxin_1	93	196	4.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228052

Predicted Effect

probably benign
Transcript: ENSMUST00000148589

SMART Domains

Protein: ENSMUSP00000123958
Gene: ENSMUSG00000006471

Domain	Start	End	E-Value	Type
PDB:4H2D\|B	1	49	7e-10	PDB
SCOP:d1f4pa_	4	45	3e-8	SMART

Meta Mutation Damage Score

0.0874

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (35/36)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, abnormal calcium homeostasis, arreasted spermiation, azoospermia, male infertility and reduced total litter numbers in female mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,254,245 (GRCm39)	H184R	probably benign	Het
Ap1g1	A	G	8: 110,581,631 (GRCm39)	D633G	probably damaging	Het
Arhgef28	C	T	13: 98,093,084 (GRCm39)	R999H	probably damaging	Het
Armc3	T	C	2: 19,273,988 (GRCm39)	S341P	probably damaging	Het
Cmya5	T	C	13: 93,233,189 (GRCm39)	E633G	possibly damaging	Het
Colgalt1	G	A	8: 72,072,306 (GRCm39)	M275I	probably damaging	Het
Commd7	T	C	2: 153,464,710 (GRCm39)	T23A	probably benign	Het
Cts3	A	G	13: 61,712,800 (GRCm39)	Y307H	probably benign	Het
Dlgap4	C	A	2: 156,587,989 (GRCm39)	P89Q	probably damaging	Het
Ecm1	A	G	3: 95,643,298 (GRCm39)	L334P	probably damaging	Het
Fzd8	G	A	18: 9,214,939 (GRCm39)	V674I	possibly damaging	Het
Gosr2	A	G	11: 103,588,472 (GRCm39)	Y5H	possibly damaging	Het
Gria4	T	A	9: 4,513,260 (GRCm39)	D283V	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Iqcm	C	T	8: 76,480,028 (GRCm39)	R329C	probably damaging	Het
Kdm4b	T	C	17: 56,703,955 (GRCm39)	C233R	probably damaging	Het
Ltbp1	T	C	17: 75,581,011 (GRCm39)	C391R	probably damaging	Het
Man2b1	G	T	8: 85,823,577 (GRCm39)		probably benign	Het
Mgat4f	A	G	1: 134,318,176 (GRCm39)	D316G	possibly damaging	Het
Nisch	A	G	14: 30,912,957 (GRCm39)		probably benign	Het
Nrxn2	T	G	19: 6,569,287 (GRCm39)	D1394E	probably damaging	Het
Or4c12	T	C	2: 89,774,153 (GRCm39)	E102G	probably benign	Het
Or4k77	T	C	2: 111,199,106 (GRCm39)	L43P	possibly damaging	Het
Pabpc6	T	C	17: 9,888,056 (GRCm39)	D165G	probably benign	Het
Psat1	A	G	19: 15,896,817 (GRCm39)		probably null	Het
Psd	A	C	19: 46,313,024 (GRCm39)	N115K	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnf144a	A	G	12: 26,360,712 (GRCm39)	V275A	probably damaging	Het
Slc35b3	A	G	13: 39,118,739 (GRCm39)	F356L	probably benign	Het
Tmc4	A	G	7: 3,674,087 (GRCm39)	V364A	probably benign	Het
Tra2a	T	C	6: 49,222,476 (GRCm39)		probably benign	Het
Ttc21b	C	T	2: 66,065,413 (GRCm39)	E454K	probably benign	Het

Other mutations in Tmem203

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Tmem203	APN	2	25,145,736 (GRCm39)	missense	probably benign
R1794:Tmem203	UTSW	2	25,146,006 (GRCm39)	missense	probably benign
R3827:Tmem203	UTSW	2	25,146,018 (GRCm39)	missense	possibly damaging	0.53
R4747:Tmem203	UTSW	2	25,145,764 (GRCm39)	missense	probably benign	0.01
R5735:Tmem203	UTSW	2	25,146,085 (GRCm39)	missense	probably benign	0.10
R6627:Tmem203	UTSW	2	25,145,785 (GRCm39)	splice site	probably null
R7555:Tmem203	UTSW	2	25,145,742 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCGCCACCTTTGAGATATTCGTG -3'
(R):5'- AGTGCTCCATTTCCAGCCAC -3'

Sequencing Primer
(F):5'- TGAGATATTCGTGCACCTGC -3'
(R):5'- CCACTGCAAGAGGCTAGTTGAC -3'

Posted On

2015-04-17