Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Tmem208'

24344

Institutional Source

Beutler Lab

Gene Symbol

Tmem208

Ensembl Gene

ENSMUSG00000014856

Gene Name

transmembrane protein 208

Synonyms

2610030K20Rik, 1700006C06Rik, Hspc171

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R0164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106052986-106061851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106061326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 117 (D117E)

Ref Sequence

ENSEMBL: ENSMUSP00000096052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014922] [ENSMUST00000098453] [ENSMUST00000109372]

AlphaFold

Q9CR96

Predicted Effect

silent
Transcript: ENSMUST00000014922

SMART Domains

Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778

Domain	Start	End	E-Value	Type
PDB:3DAD\|B	1	339	N/A	PDB
Blast:Drf_GBD	85	216	1e-48	BLAST
SCOP:d1ee4a_	120	240	4e-4	SMART
Blast:FH2	231	318	6e-38	BLAST
low complexity region	342	357	N/A	INTRINSIC
Blast:FH2	386	483	2e-10	BLAST
low complexity region	514	532	N/A	INTRINSIC
low complexity region	573	643	N/A	INTRINSIC
FH2	648	1100	3.16e-121	SMART
low complexity region	1119	1130	N/A	INTRINSIC
Blast:FH2	1135	1179	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000098453
AA Change: D117E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000096052
Gene: ENSMUSG00000014856
AA Change: D117E

Domain	Start	End	E-Value	Type
Pfam:DUF788	7	103	3.7e-29	PFAM
low complexity region	118	133	N/A	INTRINSIC
low complexity region	135	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109372

SMART Domains

Protein: ENSMUSP00000104997
Gene: ENSMUSG00000014856

Domain	Start	End	E-Value	Type
Pfam:DUF788	7	103	4.2e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136439

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

69% (18/26)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein which is localized in the endoplasmic reticulum (ER). The protein is linked to autophagy and ER stress. Knockdown of this gene increased autophagy and triggered ER stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gm14012	C	T	2: 128,079,936 (GRCm39)		noncoding transcript	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp640	G	T	13: 66,819,062 (GRCm39)		noncoding transcript	Het
Zfp640	C	A	13: 66,819,038 (GRCm39)		noncoding transcript	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	probably benign	Het

Other mutations in Tmem208

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02552:Tmem208	APN	8	106,055,329 (GRCm39)	splice site	probably null
Agog	UTSW	8	106,055,257 (GRCm39)	missense	probably damaging	1.00
excited	UTSW	8	106,055,063 (GRCm39)	missense	probably damaging	1.00
R0066:Tmem208	UTSW	8	106,054,857 (GRCm39)	missense	probably benign	0.38
R0164:Tmem208	UTSW	8	106,061,326 (GRCm39)	missense	probably benign	0.01
R0566:Tmem208	UTSW	8	106,061,475 (GRCm39)	missense	probably benign	0.00
R1569:Tmem208	UTSW	8	106,061,462 (GRCm39)	missense	possibly damaging	0.66
R1860:Tmem208	UTSW	8	106,061,438 (GRCm39)	missense	possibly damaging	0.66
R1861:Tmem208	UTSW	8	106,061,438 (GRCm39)	missense	possibly damaging	0.66
R4836:Tmem208	UTSW	8	106,055,296 (GRCm39)	missense	probably damaging	1.00
R5126:Tmem208	UTSW	8	106,061,282 (GRCm39)	missense	probably benign	0.00
R5352:Tmem208	UTSW	8	106,055,063 (GRCm39)	missense	probably damaging	1.00
R6862:Tmem208	UTSW	8	106,054,862 (GRCm39)	critical splice donor site	probably null
R7289:Tmem208	UTSW	8	106,061,418 (GRCm39)	missense	possibly damaging	0.66
R7784:Tmem208	UTSW	8	106,055,465 (GRCm39)	missense	possibly damaging	0.50
R8274:Tmem208	UTSW	8	106,055,257 (GRCm39)	missense	probably damaging	1.00
R9472:Tmem208	UTSW	8	106,055,027 (GRCm39)	missense	probably damaging	1.00
R9765:Tmem208	UTSW	8	106,061,506 (GRCm39)	makesense	probably null

Predicted Primers

Posted On

2013-04-16