Mutagenetix > Incidental Mutation

Incidental Mutation 'R2294:Tmem175'

245095

Institutional Source

Beutler Lab

Gene Symbol

Tmem175

Ensembl Gene

ENSMUSG00000013495

Gene Name

transmembrane protein 175

Synonyms

3010001K23Rik

MMRRC Submission

040293-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108777649-108795636 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 108786525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063272] [ENSMUST00000078323] [ENSMUST00000120327] [ENSMUST00000146207]

AlphaFold

Q9CXY1

Predicted Effect

probably benign
Transcript: ENSMUST00000063272

SMART Domains

Protein: ENSMUSP00000068607
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	31	121	7.3e-28	PFAM
transmembrane domain	135	157	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
Pfam:DUF1211	256	353	4.4e-36	PFAM
transmembrane domain	373	395	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078323

SMART Domains

Protein: ENSMUSP00000077437
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	31	121	7.3e-28	PFAM
transmembrane domain	135	157	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
Pfam:DUF1211	256	353	4.4e-36	PFAM
transmembrane domain	373	395	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120327

SMART Domains

Protein: ENSMUSP00000112780
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	32	121	1.5e-22	PFAM
transmembrane domain	135	157	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
Pfam:DUF1211	257	353	9.5e-27	PFAM
transmembrane domain	373	395	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	450	472	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146207

SMART Domains

Protein: ENSMUSP00000143596
Gene: ENSMUSG00000013495

Domain	Start	End	E-Value	Type
Pfam:DUF1211	32	121	5.4e-23	PFAM
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	185	207	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200485

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	C	T	15: 98,495,322 (GRCm39)	V673I	possibly damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Chchd3	T	C	6: 32,829,122 (GRCm39)	E166G	probably damaging	Het
Chrna7	A	T	7: 62,760,172 (GRCm39)	S135T	probably benign	Het
Dxo	G	A	17: 35,057,962 (GRCm39)		probably null	Het
Fbxw18	A	G	9: 109,505,865 (GRCm39)	S469P	probably damaging	Het
G3bp2	G	A	5: 92,205,887 (GRCm39)	R290C	probably damaging	Het
Hydin	T	C	8: 111,026,591 (GRCm39)	L103P	probably damaging	Het
Lrig3	C	T	10: 125,802,363 (GRCm39)	R7*	probably null	Het
Lrp6	A	G	6: 134,434,705 (GRCm39)	C1333R	probably damaging	Het
Luzp2	T	C	7: 54,821,938 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,680 (GRCm39)	N154I	probably damaging	Het
Ndufs1	A	T	1: 63,200,155 (GRCm39)	D252E	probably damaging	Het
Nos3	T	A	5: 24,569,855 (GRCm39)	V7E	probably damaging	Het
Or1e33	A	G	11: 73,738,312 (GRCm39)	L213P	probably damaging	Het
Osbpl6	A	T	2: 76,407,423 (GRCm39)	D446V	possibly damaging	Het
Pik3c2b	C	A	1: 132,994,513 (GRCm39)	P159H	probably damaging	Het
Pkhd1l1	C	T	15: 44,343,003 (GRCm39)	T160I	probably damaging	Het
Prelid3a	C	T	18: 67,605,941 (GRCm39)	T16M	probably damaging	Het
Prl7b1	A	T	13: 27,786,854 (GRCm39)	M125K	possibly damaging	Het
Rars1	C	A	11: 35,708,363 (GRCm39)		probably benign	Het
Ripk1	A	G	13: 34,200,991 (GRCm39)	T235A	probably benign	Het
Slc38a2	C	A	15: 96,589,643 (GRCm39)	V363L	probably benign	Het
Slc6a21	G	A	7: 44,929,952 (GRCm39)	A147T	possibly damaging	Het
Tgfb3	T	C	12: 86,116,684 (GRCm39)	N118S	probably benign	Het
Tmem232	A	T	17: 65,757,436 (GRCm39)	N252K	probably benign	Het
Trappc8	G	T	18: 20,999,211 (GRCm39)	C305*	probably null	Het
Tyro3	T	C	2: 119,636,126 (GRCm39)	V223A	probably damaging	Het
Yipf2	C	T	9: 21,501,177 (GRCm39)	V74M	probably damaging	Het

Other mutations in Tmem175

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Tmem175	APN	5	108,793,732 (GRCm39)	missense	probably benign	0.00
IGL02034:Tmem175	APN	5	108,790,002 (GRCm39)	missense	probably damaging	1.00
R0057:Tmem175	UTSW	5	108,787,428 (GRCm39)	missense	probably damaging	1.00
R0057:Tmem175	UTSW	5	108,787,428 (GRCm39)	missense	probably damaging	1.00
R4576:Tmem175	UTSW	5	108,792,468 (GRCm39)	missense	possibly damaging	0.83
R4707:Tmem175	UTSW	5	108,790,016 (GRCm39)	missense	probably damaging	0.99
R5063:Tmem175	UTSW	5	108,794,298 (GRCm39)	missense	probably damaging	0.99
R6248:Tmem175	UTSW	5	108,793,821 (GRCm39)	missense	probably damaging	0.99
R6864:Tmem175	UTSW	5	108,793,845 (GRCm39)	missense	probably damaging	1.00
R6950:Tmem175	UTSW	5	108,790,948 (GRCm39)	missense	probably benign	0.02
R7562:Tmem175	UTSW	5	108,789,715 (GRCm39)	missense	probably damaging	0.99
R7648:Tmem175	UTSW	5	108,792,432 (GRCm39)	missense	possibly damaging	0.54
R8313:Tmem175	UTSW	5	108,791,075 (GRCm39)	missense	probably benign	0.13
R8884:Tmem175	UTSW	5	108,794,327 (GRCm39)	missense	probably benign
R9386:Tmem175	UTSW	5	108,787,339 (GRCm39)	missense	probably benign	0.45
R9560:Tmem175	UTSW	5	108,789,693 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCGCCACTGTCATGGTCAG -3'
(R):5'- TAAAACCTCCTTTGCCAGAGC -3'

Sequencing Primer
(F):5'- CATGGTCAGTGTGGGGCC -3'
(R):5'- TCTGAATACATATCCTTCTCTGAGG -3'

Posted On

2014-10-30