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: 0.820) question?

Stock #

R5352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106052986-106061851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106055063 bp (GRCm39)

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] [ENSMUST00000211199] [ENSMUST00000210801]

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

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

noncoding transcript
Transcript: ENSMUST00000134837

Predicted Effect

probably benign
Transcript: ENSMUST00000209964

Predicted Effect

probably benign
Transcript: ENSMUST00000210412

Predicted Effect

probably benign
Transcript: ENSMUST00000211199

Predicted Effect

probably benign
Transcript: ENSMUST00000210801

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: 14,436,565 (GRCm39)	L206*	probably null	Het
Adgrv1	T	C	13: 81,642,776 (GRCm39)	Y3218C	probably damaging	Het
Agtpbp1	G	A	13: 59,621,560 (GRCm39)	T41M	probably damaging	Het
Akap6	A	T	12: 52,842,880 (GRCm39)	E76V	probably damaging	Het
Ank2	C	A	3: 127,292,640 (GRCm39)		probably benign	Het
Atp6ap1l	A	C	13: 91,031,875 (GRCm39)	L269R	probably damaging	Het
Blk	A	G	14: 63,613,420 (GRCm39)	S363P	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Btnl9	T	C	11: 49,069,667 (GRCm39)	N204S	probably benign	Het
Cc2d2a	G	T	5: 43,863,555 (GRCm39)	W672C	probably damaging	Het
Ccnf	A	G	17: 24,462,247 (GRCm39)		probably null	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Chst1	A	G	2: 92,443,710 (GRCm39)	T61A	possibly damaging	Het
Col6a4	G	A	9: 105,938,743 (GRCm39)	T1325I	probably damaging	Het
Col7a1	A	C	9: 108,790,479 (GRCm39)	T976P	unknown	Het
Corin	C	T	5: 72,462,376 (GRCm39)	S811N	probably benign	Het
Dnal1	T	C	12: 84,183,322 (GRCm39)	V27A	possibly damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
F830045P16Rik	T	A	2: 129,314,821 (GRCm39)	H152L	probably damaging	Het
Flnc	A	G	6: 29,449,317 (GRCm39)	S1405G	possibly damaging	Het
Foxj1	T	C	11: 116,224,905 (GRCm39)	N154S	possibly damaging	Het
Gm12183	T	C	11: 48,642,989 (GRCm39)		noncoding transcript	Het
Gm27047	G	A	6: 130,607,982 (GRCm39)		noncoding transcript	Het
Grm5	A	G	7: 87,724,058 (GRCm39)	I783V	probably damaging	Het
Hk1	A	T	10: 62,140,549 (GRCm39)	S113T	probably damaging	Het
Iqca1	A	T	1: 90,057,918 (GRCm39)	N260K	probably benign	Het
Iws1	A	T	18: 32,216,457 (GRCm39)	K399M	probably damaging	Het
Kdm4d	A	G	9: 14,375,654 (GRCm39)	I68T	probably damaging	Het
Man2a1	T	C	17: 65,038,241 (GRCm39)	I75T	probably damaging	Het
Med13	T	A	11: 86,192,294 (GRCm39)	I824L	possibly damaging	Het
Meioc	A	T	11: 102,566,139 (GRCm39)	E585V	probably benign	Het
Mrgpre	A	C	7: 143,334,831 (GRCm39)	F224C	probably damaging	Het
Muc5b	T	A	7: 141,418,295 (GRCm39)	F3747Y	possibly damaging	Het
Nherf2	C	T	17: 24,861,229 (GRCm39)	R66H	probably damaging	Het
Nlrp4e	T	C	7: 23,052,598 (GRCm39)	V839A	probably benign	Het
Nup210	A	T	6: 91,046,298 (GRCm39)	V545E	probably damaging	Het
Ola1	T	C	2: 72,929,674 (GRCm39)	T310A	probably damaging	Het
Pdxdc1	T	C	16: 13,658,175 (GRCm39)	N516S	probably benign	Het
Phlpp1	A	G	1: 106,100,455 (GRCm39)	D241G	probably benign	Het
Ppp1r36	T	C	12: 76,474,857 (GRCm39)	V85A	probably damaging	Het
Rasa3	A	C	8: 13,681,778 (GRCm39)	L57R	possibly damaging	Het
Rp1	T	C	1: 4,417,321 (GRCm39)	S1264G	probably benign	Het
Rprd1b	A	G	2: 157,900,656 (GRCm39)	E247G	probably damaging	Het
Sag	G	T	1: 87,740,715 (GRCm39)	V46L	probably benign	Het
Sat2	A	T	11: 69,513,141 (GRCm39)	I17F	probably damaging	Het
Slc39a6	A	T	18: 24,734,093 (GRCm39)	Y199N	probably benign	Het
Snx2	A	G	18: 53,330,997 (GRCm39)		probably null	Het
Thbs4	T	C	13: 92,900,098 (GRCm39)	D466G	probably damaging	Het
Tmf1	A	G	6: 97,153,770 (GRCm39)	L101P	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Tor3a	T	G	1: 156,501,763 (GRCm39)	E38A	probably damaging	Het
Trim31	T	A	17: 37,210,810 (GRCm39)	D147E	possibly damaging	Het
Vmn1r48	G	T	6: 90,013,129 (GRCm39)	A232E	probably benign	Het
Vmn1r89	T	G	7: 12,953,284 (GRCm39)	F7V	probably benign	Het
Zfp160	A	G	17: 21,247,114 (GRCm39)	T555A	probably benign	Het
Zfp981	C	A	4: 146,621,462 (GRCm39)	T129K	probably benign	Het
Zfpm2	T	A	15: 40,733,938 (GRCm39)	F106I	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
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
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

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