Mutagenetix > Incidental Mutation

Incidental Mutation 'R9325:Tmem168'

706452

Institutional Source

Beutler Lab

Gene Symbol

Tmem168

Ensembl Gene

ENSMUSG00000029569

Gene Name

transmembrane protein 168

Synonyms

8430437G11Rik, 5730526F17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R9325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13580688-13608097 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13583253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 543 (I543V)

Ref Sequence

ENSEMBL: ENSMUSP00000031554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031554] [ENSMUST00000149123]

AlphaFold

Q91VX9

Predicted Effect

probably benign
Transcript: ENSMUST00000031554
AA Change: I543V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031554
Gene: ENSMUSG00000029569
AA Change: I543V

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	92	109	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	199	216	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
transmembrane domain	261	283	N/A	INTRINSIC
transmembrane domain	298	320	N/A	INTRINSIC
transmembrane domain	359	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149123
AA Change: I159V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145372
Gene: ENSMUSG00000029569
AA Change: I159V

Domain	Start	End	E-Value	Type
SCOP:d1jxqa_	29	167	8e-3	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,646,578 (GRCm39)	D1076G	possibly damaging	Het
Aadacl2fm1	T	A	3: 59,843,862 (GRCm39)	N185K	probably benign	Het
Adamts9	T	C	6: 92,849,279 (GRCm39)	D1060G	probably benign	Het
Ahnak	T	A	19: 8,991,257 (GRCm39)	D4180E	probably benign	Het
Ank2	A	C	3: 126,775,504 (GRCm39)	F42V	probably damaging	Het
Ankib1	A	G	5: 3,822,523 (GRCm39)	I61T	possibly damaging	Het
Arhgap9	T	C	10: 127,161,722 (GRCm39)	S238P	probably damaging	Het
Bpifa3	A	T	2: 153,975,600 (GRCm39)	I57F	probably damaging	Het
Cdh17	A	G	4: 11,810,319 (GRCm39)	Y670C	probably damaging	Het
Ceacam20	C	A	7: 19,720,607 (GRCm39)	R515S	probably benign	Het
Cers5	A	T	15: 99,637,338 (GRCm39)	V274E	probably damaging	Het
Clip1	T	C	5: 123,751,186 (GRCm39)	D865G		Het
Cnih3	G	A	1: 181,181,072 (GRCm39)		probably null	Het
Coro2b	G	T	9: 62,396,609 (GRCm39)	H44N	probably benign	Het
Cuta	A	G	17: 27,158,289 (GRCm39)		probably null	Het
Dchs1	T	C	7: 105,415,402 (GRCm39)	I625V	possibly damaging	Het
Ddx4	A	T	13: 112,736,441 (GRCm39)	F643Y	probably damaging	Het
Dlc1	A	T	8: 37,038,518 (GRCm39)	V1020E	possibly damaging	Het
Dnah1	G	T	14: 30,998,160 (GRCm39)	T2559K	possibly damaging	Het
Eng	C	T	2: 32,561,445 (GRCm39)	A152V	probably damaging	Het
F7	G	T	8: 13,083,430 (GRCm39)	R190L	probably benign	Het
Fcgr4	T	C	1: 170,847,711 (GRCm39)	V103A	probably damaging	Het
Fer1l4	C	T	2: 155,877,934 (GRCm39)	V1005I	probably damaging	Het
Fmod	A	T	1: 133,968,371 (GRCm39)	H137L	probably damaging	Het
Fndc7	T	C	3: 108,790,834 (GRCm39)	D64G	possibly damaging	Het
Gucy2c	A	T	6: 136,743,992 (GRCm39)	C202*	probably null	Het
Hspg2	C	T	4: 137,265,552 (GRCm39)	R1783W	probably damaging	Het
Hyal6	T	A	6: 24,743,455 (GRCm39)	S384T	probably damaging	Het
Igsf21	T	A	4: 139,794,466 (GRCm39)	I136F	probably damaging	Het
Isl1	A	G	13: 116,436,105 (GRCm39)	S321P	probably damaging	Het
Kif5c	A	G	2: 49,639,378 (GRCm39)	K813R	probably benign	Het
Klk7	A	G	7: 43,461,437 (GRCm39)	E18G	possibly damaging	Het
Lox	T	C	18: 52,661,400 (GRCm39)	M225V	probably benign	Het
Lrrfip2	T	A	9: 110,990,429 (GRCm39)	M50K	possibly damaging	Het
Lrrn2	A	T	1: 132,865,241 (GRCm39)	Q102L	probably damaging	Het
Mcm3	T	C	1: 20,875,562 (GRCm39)	R692G	probably benign	Het
Mmp14	T	C	14: 54,676,248 (GRCm39)	V326A	probably damaging	Het
Muc2	G	A	7: 141,298,559 (GRCm39)	M70I		Het
Nefl	T	C	14: 68,322,460 (GRCm39)		probably null	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nup188	T	A	2: 30,212,271 (GRCm39)	L586Q	probably damaging	Het
Or10ag58	G	A	2: 87,265,290 (GRCm39)	G153D	possibly damaging	Het
Or8c13	T	C	9: 38,091,327 (GRCm39)	D264G	probably benign	Het
Pik3c2a	A	T	7: 115,990,558 (GRCm39)	D467E	probably damaging	Het
Polr2g	T	A	19: 8,774,669 (GRCm39)	K71N	probably benign	Het
Pramel31	A	G	4: 144,089,093 (GRCm39)	H137R	probably benign	Het
Prkci	A	G	3: 31,085,333 (GRCm39)	K184R	probably damaging	Het
Prr15	G	A	6: 54,306,137 (GRCm39)		probably benign	Het
Rin2	T	A	2: 145,727,819 (GRCm39)	N896K	probably benign	Het
Ryr3	T	C	2: 112,479,640 (GRCm39)	E4414G	probably damaging	Het
Slc4a4	T	A	5: 89,376,756 (GRCm39)	D994E	probably damaging	Het
Slc6a4	C	A	11: 76,909,999 (GRCm39)	P418Q	probably benign	Het
Smarcc2	T	A	10: 128,324,076 (GRCm39)	M1138K	unknown	Het
Snph	C	T	2: 151,436,208 (GRCm39)	R240Q	probably damaging	Het
Stox2	T	A	8: 47,647,095 (GRCm39)	T122S	probably benign	Het
Tmem131l	T	C	3: 83,817,768 (GRCm39)	D1244G	probably benign	Het
Tyw1	T	C	5: 130,291,762 (GRCm39)	S77P	probably damaging	Het
Usp36	T	G	11: 118,160,031 (GRCm39)	D471A	possibly damaging	Het
Vmn2r102	A	G	17: 19,897,558 (GRCm39)	Y191C	probably damaging	Het
Vmn2r104	T	C	17: 20,268,433 (GRCm39)	Q12R	possibly damaging	Het
Zfp820	A	T	17: 22,038,380 (GRCm39)	I316N	probably damaging	Het
Zscan4-ps3	T	C	7: 11,344,227 (GRCm39)	F62L	probably damaging	Het

Other mutations in Tmem168

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Tmem168	APN	6	13,602,674 (GRCm39)	missense	probably benign	0.06
IGL01305:Tmem168	APN	6	13,583,045 (GRCm39)	missense	probably damaging	1.00
IGL01843:Tmem168	APN	6	13,582,940 (GRCm39)	missense	probably damaging	1.00
IGL02742:Tmem168	APN	6	13,603,261 (GRCm39)	missense	probably benign	0.04
IGL02863:Tmem168	APN	6	13,582,917 (GRCm39)	missense	probably damaging	0.98
ANU22:Tmem168	UTSW	6	13,583,045 (GRCm39)	missense	probably damaging	1.00
R0193:Tmem168	UTSW	6	13,583,312 (GRCm39)	missense	possibly damaging	0.81
R0537:Tmem168	UTSW	6	13,603,360 (GRCm39)	missense	probably damaging	1.00
R0630:Tmem168	UTSW	6	13,583,064 (GRCm39)	missense	probably benign
R0890:Tmem168	UTSW	6	13,603,271 (GRCm39)	missense	probably damaging	1.00
R1416:Tmem168	UTSW	6	13,591,400 (GRCm39)	missense	probably damaging	0.96
R1900:Tmem168	UTSW	6	13,583,070 (GRCm39)	missense	probably benign	0.02
R3947:Tmem168	UTSW	6	13,583,051 (GRCm39)	missense	probably damaging	1.00
R4362:Tmem168	UTSW	6	13,595,072 (GRCm39)	missense	probably benign	0.31
R4620:Tmem168	UTSW	6	13,594,952 (GRCm39)	missense	probably benign	0.03
R5693:Tmem168	UTSW	6	13,602,320 (GRCm39)	missense	probably benign	0.01
R6142:Tmem168	UTSW	6	13,591,368 (GRCm39)	missense	probably benign
R6328:Tmem168	UTSW	6	13,602,710 (GRCm39)	missense	probably benign
R6438:Tmem168	UTSW	6	13,602,673 (GRCm39)	missense	probably benign	0.06
R6711:Tmem168	UTSW	6	13,603,120 (GRCm39)	missense	probably damaging	1.00
R6827:Tmem168	UTSW	6	13,582,837 (GRCm39)	missense	probably damaging	0.99
R6987:Tmem168	UTSW	6	13,591,476 (GRCm39)	missense	possibly damaging	0.82
R7696:Tmem168	UTSW	6	13,602,937 (GRCm39)	missense	probably benign	0.01
R8295:Tmem168	UTSW	6	13,602,850 (GRCm39)	missense	probably damaging	0.99
R8344:Tmem168	UTSW	6	13,583,324 (GRCm39)	missense	probably benign
R8432:Tmem168	UTSW	6	13,602,535 (GRCm39)	missense	probably benign	0.30
R8992:Tmem168	UTSW	6	13,602,849 (GRCm39)	missense	possibly damaging	0.72
R9003:Tmem168	UTSW	6	13,591,446 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TGGAGTTACAGTTGTATTCTACCC -3'
(R):5'- ACATAGTGGAACATGTGCCC -3'

Sequencing Primer
(F):5'- CAGTCTCTAGTAAAGTCACCCAGCTG -3'
(R):5'- ATAGTGGAACATGTGCCCCTGTG -3'

Posted On

2022-04-18