Mutagenetix > Incidental Mutation

Incidental Mutation 'R2842:Tmem225'

254339

Institutional Source

Beutler Lab

Gene Symbol

Tmem225

Ensembl Gene

ENSMUSG00000040541

Gene Name

transmembrane protein 225

Synonyms

1700030E15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40059418-40062170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40061097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 135 (Y135H)

Ref Sequence

ENSEMBL: ENSMUSP00000036816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046333]

AlphaFold

Q9D9S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000046333
AA Change: Y135H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036816
Gene: ENSMUSG00000040541
AA Change: Y135H

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
transmembrane domain	97	119	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aplp2	C	T	9: 31,069,122 (GRCm39)	R569Q	probably benign	Het
Arl8a	T	C	1: 135,082,989 (GRCm39)	S181P	probably damaging	Het
Armc8	A	G	9: 99,387,734 (GRCm39)	S396P	probably benign	Het
Baz2b	A	G	2: 59,743,348 (GRCm39)	V1541A	probably benign	Het
Crebbp	G	A	16: 3,927,062 (GRCm39)	R628C	probably damaging	Het
Ep400	T	A	5: 110,846,681 (GRCm39)	K295*	probably null	Het
Frem3	T	A	8: 81,395,978 (GRCm39)		probably null	Het
Gon4l	T	C	3: 88,802,794 (GRCm39)	V1135A	probably damaging	Het
Gprc5b	G	A	7: 118,583,302 (GRCm39)	T189M	possibly damaging	Het
Gucy2g	C	T	19: 55,229,379 (GRCm39)	C97Y	probably damaging	Het
Heatr5a	T	A	12: 52,002,261 (GRCm39)	K225M	probably null	Het
Heatr5a	C	T	12: 52,002,260 (GRCm39)		probably null	Het
Insr	A	G	8: 3,252,986 (GRCm39)	I391T	probably damaging	Het
Lce1e	T	A	3: 92,615,056 (GRCm39)	H97L	unknown	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mast1	T	C	8: 85,650,537 (GRCm39)	R399G	probably damaging	Het
Mast4	C	A	13: 102,872,939 (GRCm39)	S1951I	probably benign	Het
Mdc1	C	T	17: 36,159,686 (GRCm39)	P648S	probably benign	Het
Mgam	T	C	6: 40,638,279 (GRCm39)	F410L	probably benign	Het
Nr2e1	T	C	10: 42,444,441 (GRCm39)	R223G	probably damaging	Het
Otud7b	G	A	3: 96,043,905 (GRCm39)	E19K	probably damaging	Het
Plce1	T	C	19: 38,512,727 (GRCm39)	S9P	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Plxna4	A	G	6: 32,192,566 (GRCm39)		probably null	Het
Prkag3	T	C	1: 74,780,334 (GRCm39)	I444V	probably benign	Het
Rsph10b	T	G	5: 143,916,710 (GRCm39)	V310G	possibly damaging	Het
Tox2	G	A	2: 163,046,550 (GRCm39)		probably benign	Het
Ttc3	C	T	16: 94,232,857 (GRCm39)	P1003L	probably damaging	Het
Wfikkn2	G	A	11: 94,129,085 (GRCm39)	T352I	probably benign	Het

Other mutations in Tmem225

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Tmem225	APN	9	40,059,725 (GRCm39)	missense	probably damaging	0.98
IGL03094:Tmem225	APN	9	40,059,682 (GRCm39)	missense	possibly damaging	0.46
R0599:Tmem225	UTSW	9	40,061,043 (GRCm39)	missense	possibly damaging	0.46
R1134:Tmem225	UTSW	9	40,061,143 (GRCm39)	missense	possibly damaging	0.92
R4556:Tmem225	UTSW	9	40,060,762 (GRCm39)	missense	probably damaging	0.96
R5024:Tmem225	UTSW	9	40,060,639 (GRCm39)	missense	probably benign	0.01
R5526:Tmem225	UTSW	9	40,062,002 (GRCm39)	missense	possibly damaging	0.92
R5540:Tmem225	UTSW	9	40,060,681 (GRCm39)	missense	probably damaging	0.99
R5597:Tmem225	UTSW	9	40,060,726 (GRCm39)	missense	possibly damaging	0.94
R6267:Tmem225	UTSW	9	40,059,731 (GRCm39)	missense	probably damaging	0.97
R6314:Tmem225	UTSW	9	40,062,016 (GRCm39)	missense	probably benign
R7153:Tmem225	UTSW	9	40,059,664 (GRCm39)	missense	probably benign	0.01
R8031:Tmem225	UTSW	9	40,060,689 (GRCm39)	missense	possibly damaging	0.46
R8245:Tmem225	UTSW	9	40,061,955 (GRCm39)	missense	probably damaging	0.99
X0064:Tmem225	UTSW	9	40,061,082 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GCTGTGCTGGACAAGATAGG -3'
(R):5'- AGCTCAGATTTCTGCTCCTAAG -3'

Sequencing Primer
(F):5'- GATGAATGGGAGTGAAACCTTACC -3'
(R):5'- GAGAGTTAGTCCAGGTCACTTTTCAC -3'

Posted On

2014-12-04