Mutagenetix > Incidental Mutation

Incidental Mutation 'R6950:Tmem175'

541207

Institutional Source

Beutler Lab

Gene Symbol

Tmem175

Ensembl Gene

ENSMUSG00000013495

Gene Name

transmembrane protein 175

Synonyms

3010001K23Rik

MMRRC Submission

045062-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108777649-108795636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108790948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 166 (N166S)

Ref Sequence

ENSEMBL: ENSMUSP00000143596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053913] [ENSMUST00000063272] [ENSMUST00000078323] [ENSMUST00000120327] [ENSMUST00000132179] [ENSMUST00000132708] [ENSMUST00000146207] [ENSMUST00000153238]

AlphaFold

Q9CXY1

Predicted Effect

probably benign
Transcript: ENSMUST00000053913

SMART Domains

Protein: ENSMUSP00000057859
Gene: ENSMUSG00000004815

Domain	Start	End	E-Value	Type
C1	55	102	3.22e-14	SMART
C1	114	162	1.73e-2	SMART
C1	178	228	1.58e-13	SMART
low complexity region	267	275	N/A	INTRINSIC
RA	387	486	2.08e-20	SMART
DAGKc	580	707	4.79e-63	SMART
DAGKa	733	885	7e-88	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063272
AA Change: N166S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068607
Gene: ENSMUSG00000013495
AA Change: N166S

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
AA Change: N166S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000077437
Gene: ENSMUSG00000013495
AA Change: N166S

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
AA Change: N166S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112780
Gene: ENSMUSG00000013495
AA Change: N166S

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: ENSMUST00000132179

SMART Domains

Protein: ENSMUSP00000118466
Gene: ENSMUSG00000004815

Domain	Start	End	E-Value	Type
C1	55	102	3.22e-14	SMART
Blast:C1	114	144	1e-12	BLAST
low complexity region	156	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132708

SMART Domains

Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815

Domain	Start	End	E-Value	Type
Blast:C1	26	56	2e-13	BLAST
low complexity region	68	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146207
AA Change: N166S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000143596
Gene: ENSMUSG00000013495
AA Change: N166S

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

probably benign
Transcript: ENSMUST00000153238

SMART Domains

Protein: ENSMUSP00000118065
Gene: ENSMUSG00000004815

Domain	Start	End	E-Value	Type
C1	55	102	3.22e-14	SMART
Blast:C1	114	144	1e-12	BLAST
low complexity region	156	169	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,229,480 (GRCm39)	V404D	probably damaging	Het
Adcy2	A	G	13: 69,036,184 (GRCm39)	M159T	possibly damaging	Het
Agtpbp1	T	C	13: 59,598,080 (GRCm39)	K674R	probably benign	Het
Atxn7	C	A	14: 14,095,511 (GRCm38)	P403H	probably damaging	Het
Cav3	C	T	6: 112,449,171 (GRCm39)	T63I	probably damaging	Het
Ccr6	T	C	17: 8,475,898 (GRCm39)	*368Q	probably null	Het
Cdh8	A	T	8: 99,757,395 (GRCm39)	N734K	probably benign	Het
Ces5a	G	T	8: 94,257,402 (GRCm39)	N134K	probably benign	Het
Cisd3	T	G	11: 97,576,986 (GRCm39)		probably null	Het
Cyp4f39	T	G	17: 32,711,280 (GRCm39)	C476G	probably damaging	Het
Dffb	A	T	4: 154,054,549 (GRCm39)	M180K	probably benign	Het
Dock4	A	G	12: 40,783,313 (GRCm39)	E749G	possibly damaging	Het
Eogt	A	G	6: 97,111,343 (GRCm39)	F173L	possibly damaging	Het
Ephb1	T	A	9: 102,072,108 (GRCm39)	T224S	probably benign	Het
Fam114a1	A	T	5: 65,137,322 (GRCm39)	E88D	possibly damaging	Het
Fbn2	A	C	18: 58,168,993 (GRCm39)	M2262R	probably null	Het
Fsip2	A	G	2: 82,816,332 (GRCm39)	I4022V	probably benign	Het
Gapvd1	A	G	2: 34,574,257 (GRCm39)	V1301A	probably benign	Het
Gch1	A	T	14: 47,426,723 (GRCm39)	M1K	probably null	Het
Hes1	T	C	16: 29,886,089 (GRCm39)	F231S	probably damaging	Het
Hoxb2	A	G	11: 96,242,727 (GRCm39)	T31A	probably benign	Het
Ifngr1	T	A	10: 19,483,041 (GRCm39)	V265D	probably damaging	Het
Ifnl3	A	T	7: 28,222,432 (GRCm39)	I58F	probably benign	Het
Igf2r	T	C	17: 12,937,605 (GRCm39)	T561A	probably benign	Het
Igfbpl1	T	A	4: 45,815,494 (GRCm39)	H214L	probably damaging	Het
Irf8	A	G	8: 121,481,864 (GRCm39)	T318A	probably benign	Het
Kmt2d	T	C	15: 98,737,901 (GRCm39)		probably benign	Het
Lratd2	T	C	15: 60,695,563 (GRCm39)	D61G	probably benign	Het
Lrrc36	G	T	8: 106,152,021 (GRCm39)		probably null	Het
Msl2	C	T	9: 100,979,174 (GRCm39)	P516L	possibly damaging	Het
Naaladl1	A	T	19: 6,156,011 (GRCm39)	I62F	probably damaging	Het
Neto2	G	T	8: 86,397,072 (GRCm39)	P60Q	probably damaging	Het
Nipsnap3b	A	T	4: 53,015,136 (GRCm39)	H61L	possibly damaging	Het
Npb	T	C	11: 120,499,473 (GRCm39)	F47L	probably benign	Het
Nutm1	T	A	2: 112,078,904 (GRCm39)	T1004S	probably benign	Het
Or4a78	T	A	2: 89,497,895 (GRCm39)	I112F	probably benign	Het
Or4z4	A	G	19: 12,076,754 (GRCm39)	V83A	probably benign	Het
Or8c17	A	T	9: 38,179,842 (GRCm39)	N3I	probably damaging	Het
Oxr1	C	A	15: 41,683,951 (GRCm39)	A439E	probably benign	Het
Phf14	A	T	6: 12,006,854 (GRCm39)	K835N	probably damaging	Het
Prkdc	T	A	16: 15,633,850 (GRCm39)	V3518E	probably damaging	Het
Ptpru	T	A	4: 131,503,663 (GRCm39)	E1132D	probably damaging	Het
Rapgef6	T	A	11: 54,567,206 (GRCm39)	M1129K	probably benign	Het
Rgmb	T	C	17: 16,028,048 (GRCm39)	K224E	probably damaging	Het
Ryr3	T	C	2: 112,517,170 (GRCm39)	I3318V	possibly damaging	Het
Slc9a4	A	G	1: 40,642,045 (GRCm39)	Y338C	probably damaging	Het
Smg5	T	C	3: 88,256,576 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,693,514 (GRCm39)	Y1789*	probably null	Het
Tgm7	T	C	2: 120,924,128 (GRCm39)	E598G	probably damaging	Het
Tiam1	C	T	16: 89,657,092 (GRCm39)		probably null	Het
Trp73	G	T	4: 154,146,510 (GRCm39)	N368K	probably benign	Het
Trpc3	C	T	3: 36,692,739 (GRCm39)	R751H	probably damaging	Het
Trpm4	C	A	7: 44,968,704 (GRCm39)	A410S	probably damaging	Het
Ube2t	T	G	1: 134,899,095 (GRCm39)		probably null	Het
Vmn2r114	C	T	17: 23,529,137 (GRCm39)	A322T	probably benign	Het
Xylt2	C	T	11: 94,558,455 (GRCm39)	R567H	probably benign	Het
Zfp119b	T	C	17: 56,246,137 (GRCm39)	K318E	probably damaging	Het
Zfp626	T	G	7: 27,518,339 (GRCm39)	L440R	probably damaging	Het
Zfp850	A	G	7: 27,689,939 (GRCm39)	S90P	possibly 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
R2294:Tmem175	UTSW	5	108,786,525 (GRCm39)	splice site	probably benign
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
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'- TCAGAACATCCCAGGGTAGG -3'
(R):5'- AGCCAGCTTCTACTACCTGC -3'

Sequencing Primer
(F):5'- CATCCCAGGGTAGGAGGCTATCTAG -3'
(R):5'- GCTGCTAGCTAGGTTCTTTTCAACTG -3'

Posted On

2018-11-28