Mutagenetix > Incidental Mutation

Incidental Mutation 'R5352:Tmem208'

423843

Institutional Source

Beutler Lab

Gene Symbol

Tmem208

Ensembl Gene

ENSMUSG00000014856

Gene Name

transmembrane protein 208

Synonyms

2610030K20Rik, 1700006C06Rik, Hspc171

MMRRC Submission

042931-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.837) question?

Stock #

R5352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105326354-105335219 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105328431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 91 (D91G)

Ref Sequence

ENSEMBL: ENSMUSP00000138470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014922] [ENSMUST00000015000] [ENSMUST00000070508] [ENSMUST00000098453] [ENSMUST00000109372] [ENSMUST00000126705] [ENSMUST00000153146] [ENSMUST00000209964] [ENSMUST00000210412] [ENSMUST00000210801] [ENSMUST00000211199]

AlphaFold

Q9CR96

Predicted Effect

probably benign
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

possibly damaging
Transcript: ENSMUST00000015000
AA Change: D91G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000015000
Gene: ENSMUSG00000014856
AA Change: D91G

Domain	Start	End	E-Value	Type
Pfam:DUF788	7	171	1.1e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070508

SMART Domains

Protein: ENSMUSP00000063248
Gene: ENSMUSG00000041679

Domain	Start	End	E-Value	Type
LRR	42	67	7.15e-2	SMART
LRR	68	93	1.92e-2	SMART
LRR	94	119	1.23e0	SMART
LRR	120	145	1.56e2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098453
AA Change: D91G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096052
Gene: ENSMUSG00000014856
AA Change: D91G

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 damaging
Transcript: ENSMUST00000109372
AA Change: D91G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104997
Gene: ENSMUSG00000014856
AA Change: D91G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126705
AA Change: D91G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138226
Gene: ENSMUSG00000014856
AA Change: D91G

Domain	Start	End	E-Value	Type
Pfam:DUF788	7	100	3e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134837

Predicted Effect

probably damaging
Transcript: ENSMUST00000153146
AA Change: D91G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138470
Gene: ENSMUSG00000014856
AA Change: D91G

Domain	Start	End	E-Value	Type
Pfam:DUF788	7	100	3e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209964

Predicted Effect

probably benign
Transcript: ENSMUST00000210412

Predicted Effect

probably benign
Transcript: ENSMUST00000210801

Predicted Effect

probably benign
Transcript: ENSMUST00000211199

Meta Mutation Damage Score

0.7402

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (66/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	G	16: 14,618,701	L206*	probably null	Het
Adgrv1	T	C	13: 81,494,657	Y3218C	probably damaging	Het
Agtpbp1	G	A	13: 59,473,746	T41M	probably damaging	Het
Akap6	A	T	12: 52,796,097	E76V	probably damaging	Het
Ank2	C	A	3: 127,498,991		probably benign	Het
Atp6ap1l	A	C	13: 90,883,756	L269R	probably damaging	Het
Blk	A	G	14: 63,375,971	S363P	probably damaging	Het
Btnl9	T	C	11: 49,178,840	N204S	probably benign	Het
Cc2d2a	G	T	5: 43,706,213	W672C	probably damaging	Het
Ccnf	A	G	17: 24,243,273		probably null	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Chst1	A	G	2: 92,613,365	T61A	possibly damaging	Het
Col6a4	G	A	9: 106,061,544	T1325I	probably damaging	Het
Col7a1	A	C	9: 108,961,411	T976P	unknown	Het
Corin	C	T	5: 72,305,033	S811N	probably benign	Het
Dnal1	T	C	12: 84,136,548	V27A	possibly damaging	Het
Dupd1	G	A	14: 21,677,023	R186W	probably benign	Het
F830045P16Rik	T	A	2: 129,472,901	H152L	probably damaging	Het
Flnc	A	G	6: 29,449,318	S1405G	possibly damaging	Het
Foxj1	T	C	11: 116,334,079	N154S	possibly damaging	Het
Gm12183	T	C	11: 48,752,162		noncoding transcript	Het
Gm27047	G	A	6: 130,631,019		noncoding transcript	Het
Grm5	A	G	7: 88,074,850	I783V	probably damaging	Het
Hk1	A	T	10: 62,304,770	S113T	probably damaging	Het
Iqca	A	T	1: 90,130,196	N260K	probably benign	Het
Iws1	A	T	18: 32,083,404	K399M	probably damaging	Het
Kdm4d	A	G	9: 14,464,358	I68T	probably damaging	Het
Man2a1	T	C	17: 64,731,246	I75T	probably damaging	Het
Med13	T	A	11: 86,301,468	I824L	possibly damaging	Het
Meioc	A	T	11: 102,675,313	E585V	probably benign	Het
Mrgpre	A	C	7: 143,781,094	F224C	probably damaging	Het
Muc5b	T	A	7: 141,864,558	F3747Y	possibly damaging	Het
Nlrp4e	T	C	7: 23,353,173	V839A	probably benign	Het
Nup210	A	T	6: 91,069,316	V545E	probably damaging	Het
Ola1	T	C	2: 73,099,330	T310A	probably damaging	Het
Pdxdc1	T	C	16: 13,840,311	N516S	probably benign	Het
Phlpp1	A	G	1: 106,172,725	D241G	probably benign	Het
Ppp1r36	T	C	12: 76,428,083	V85A	probably damaging	Het
Rasa3	A	C	8: 13,631,778	L57R	possibly damaging	Het
Rp1	T	C	1: 4,347,098	S1264G	probably benign	Het
Rprd1b	A	G	2: 158,058,736	E247G	probably damaging	Het
Sag	G	T	1: 87,812,993	V46L	probably benign	Het
Sat2	A	T	11: 69,622,315	I17F	probably damaging	Het
Slc39a6	A	T	18: 24,601,036	Y199N	probably benign	Het
Slc9a3r2	C	T	17: 24,642,255	R66H	probably damaging	Het
Snx2	A	G	18: 53,197,925		probably null	Het
Thbs4	T	C	13: 92,763,590	D466G	probably damaging	Het
Tmf1	A	G	6: 97,176,809	L101P	probably damaging	Het
Tnni1	A	G	1: 135,805,592	T51A	probably benign	Het
Tor3a	T	G	1: 156,674,193	E38A	probably damaging	Het
Trim31	T	A	17: 36,899,918	D147E	possibly damaging	Het
Uhrf1bp1	G	A	17: 27,887,515	S1005N	probably benign	Het
Vmn1r48	G	T	6: 90,036,147	A232E	probably benign	Het
Vmn1r89	T	G	7: 13,219,357	F7V	probably benign	Het
Zfp160	A	G	17: 21,026,852	T555A	probably benign	Het
Zfp981	C	A	4: 146,537,005	T129K	probably benign	Het
Zfpm2	T	A	15: 40,870,542	F106I	probably benign	Het

Other mutations in Tmem208

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02552:Tmem208	APN	8	105328697	splice site	probably null
Agog	UTSW	8	105328625	missense	probably damaging	1.00
excited	UTSW	8	105328431	missense	probably damaging	1.00
R0066:Tmem208	UTSW	8	105328225	missense	probably benign	0.38
R0164:Tmem208	UTSW	8	105334694	missense	probably benign	0.01
R0164:Tmem208	UTSW	8	105334694	missense	probably benign	0.01
R0566:Tmem208	UTSW	8	105334843	missense	probably benign	0.00
R1569:Tmem208	UTSW	8	105334830	missense	possibly damaging	0.66
R1860:Tmem208	UTSW	8	105334806	missense	possibly damaging	0.66
R1861:Tmem208	UTSW	8	105334806	missense	possibly damaging	0.66
R4836:Tmem208	UTSW	8	105328664	missense	probably damaging	1.00
R5126:Tmem208	UTSW	8	105334650	missense	probably benign	0.00
R6862:Tmem208	UTSW	8	105328230	critical splice donor site	probably null
R7289:Tmem208	UTSW	8	105334786	missense	possibly damaging	0.66
R7784:Tmem208	UTSW	8	105328833	missense	possibly damaging	0.50
R8274:Tmem208	UTSW	8	105328625	missense	probably damaging	1.00
R9472:Tmem208	UTSW	8	105328395	missense	probably damaging	1.00
R9765:Tmem208	UTSW	8	105334874	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CATTCTGGGCCTGGGTAAGTATC -3'
(R):5'- CACATCCTTAAGGTGCCTGC -3'

Sequencing Primer
(F):5'- CCTGGGTAAGTATCCTGGGAAAG -3'
(R):5'- CTTAAGGTGCCTGCGGGATAAAG -3'

Posted On

2016-08-04