Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU22:Tmem168'

262580

Institutional Source

Beutler Lab

Gene Symbol

Tmem168

Ensembl Gene

ENSMUSG00000029569

Gene Name

transmembrane protein 168

Synonyms

8430437G11Rik, 5730526F17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

ANU22

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

13580688-13608097 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13583045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 612 (V612E)

Ref Sequence

ENSEMBL: ENSMUSP00000031554 (fasta)

Gene Model

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

AlphaFold

Q91VX9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031554
AA Change: V612E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031554
Gene: ENSMUSG00000029569
AA Change: V612E

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 damaging
Transcript: ENSMUST00000149123
AA Change: V228E

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145372
Gene: ENSMUSG00000029569
AA Change: V228E

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

Coding Region Coverage

1x: 98.7%
3x: 98.1%
10x: 96.2%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,797,915 (GRCm39)	E663G	possibly damaging	Het
Adam29	T	A	8: 56,324,879 (GRCm39)	H525L	probably benign	Het
Adamts2	A	G	11: 50,628,190 (GRCm39)	N297D	probably benign	Het
Adamts6	T	A	13: 104,526,590 (GRCm39)	V506E	probably damaging	Het
Ankfy1	G	A	11: 72,655,617 (GRCm39)	E1101K	probably damaging	Het
Arap3	C	T	18: 38,124,380 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,649,503 (GRCm39)	H497Q	probably benign	Het
Caln1	A	G	5: 130,698,392 (GRCm39)	E96G	probably damaging	Het
Cdh23	T	C	10: 60,148,403 (GRCm39)	T2653A	probably damaging	Het
Cdk5rap2	T	A	4: 70,298,472 (GRCm39)	I87F	possibly damaging	Het
Crybg3	T	A	16: 59,349,590 (GRCm39)	H934L	probably damaging	Het
Cyp2d22	G	A	15: 82,255,869 (GRCm39)	T461I	probably damaging	Het
Dhcr24	T	C	4: 106,429,475 (GRCm39)	F183L	possibly damaging	Het
Dusp16	A	T	6: 134,695,824 (GRCm39)	S336T	probably benign	Het
F930017D23Rik	T	G	10: 43,480,371 (GRCm39)		noncoding transcript	Het
Fasl	A	G	1: 161,609,407 (GRCm39)	V193A	probably damaging	Het
Fgf5	T	C	5: 98,423,175 (GRCm39)	Y187H	probably damaging	Het
Focad	C	A	4: 88,311,784 (GRCm39)	Q1423K	probably benign	Het
Gabrp	T	C	11: 33,505,055 (GRCm39)	T249A	probably damaging	Het
Galnt5	A	T	2: 57,915,354 (GRCm39)	K637*	probably null	Het
Grm6	A	T	11: 50,750,346 (GRCm39)	D503V	probably benign	Het
Hmg20a	A	T	9: 56,394,934 (GRCm39)	D216V	probably damaging	Het
Lyst	C	T	13: 13,852,641 (GRCm39)	R2214C	probably benign	Het
Micu2	T	A	14: 58,181,082 (GRCm39)	D184V	probably damaging	Het
Nabp2	T	A	10: 128,244,631 (GRCm39)	I52F	probably damaging	Het
Nat8f7	A	T	6: 85,684,570 (GRCm39)	L90*	probably null	Het
Or2z2	A	T	11: 58,346,088 (GRCm39)	M229K	probably damaging	Het
Or4k47	T	C	2: 111,451,546 (GRCm39)	N291S	probably damaging	Het
Pphln1	A	G	15: 93,386,985 (GRCm39)	E273G	probably damaging	Het
Ppil1	C	A	17: 29,482,862 (GRCm39)	V14F	possibly damaging	Het
Ptprd	C	A	4: 76,018,693 (GRCm39)	D694Y	probably damaging	Het
Relt	A	T	7: 100,500,905 (GRCm39)	L28Q	probably damaging	Het
Skic8	C	A	9: 54,635,470 (GRCm39)	V44L	probably damaging	Het
Sptbn4	G	A	7: 27,056,812 (GRCm39)	R2525*	probably null	Het
St8sia5	G	A	18: 77,342,358 (GRCm39)	G320D	probably damaging	Het
Taf2	T	C	15: 54,911,670 (GRCm39)	E582G	probably damaging	Het
Tas2r116	T	A	6: 132,832,406 (GRCm39)	N2K	probably benign	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Unc79	A	G	12: 102,968,130 (GRCm39)	S119G	probably damaging	Het
Washc5	T	A	15: 59,227,688 (GRCm39)	K425*	probably null	Het
Wtap	G	T	17: 13,186,782 (GRCm39)	T255K	probably benign	Het
Zfp148	T	C	16: 33,277,313 (GRCm39)	V134A	probably benign	Het
Zfp397	C	T	18: 24,093,808 (GRCm39)	S431L	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
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
R9325:Tmem168	UTSW	6	13,583,253 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGCCTTGTCCTGTGTCCAGC -3'
(R):5'- GAGAAGAACGGTTCCTTCTGTTCCC -3'

Sequencing Primer
(F):5'- CTGTGTCCAGCACTGTAGGAAG -3'
(R):5'- GGCTTATCATCATCTTAGACAGCG -3'

Posted On

2015-02-04