Incidental Mutation 'R0566:Tmem208'
| ID |
46187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem208
|
| Ensembl Gene |
ENSMUSG00000014856 |
| Gene Name |
transmembrane protein 208 |
| Synonyms |
2610030K20Rik, 1700006C06Rik, Hspc171 |
| MMRRC Submission |
038757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
R0566 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106052986-106061851 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106061475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 167
(V167A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000098453]
[ENSMUST00000109372]
|
| 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 |
probably benign
Transcript: ENSMUST00000098453
AA Change: V167A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096052
Gene: ENSMUSG00000014856
AA Change: V167A
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
96% (24/25) |
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
T |
C |
8: 123,508,266 (GRCm39) |
L254P |
possibly damaging |
Het |
| Adamts6 |
C |
A |
13: 104,581,435 (GRCm39) |
A850E |
probably benign |
Het |
| Ccdc112 |
A |
C |
18: 46,423,877 (GRCm39) |
V287G |
probably damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,592,876 (GRCm39) |
V811A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,402 (GRCm39) |
V1810A |
probably benign |
Het |
| Dhx15 |
T |
G |
5: 52,328,767 (GRCm39) |
K287T |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,221,840 (GRCm39) |
|
probably benign |
Het |
| Gnpda2 |
A |
G |
5: 69,742,304 (GRCm39) |
|
probably benign |
Het |
| Mto1 |
T |
C |
9: 78,355,583 (GRCm39) |
F2S |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,013,768 (GRCm39) |
L494P |
probably benign |
Het |
| Or2r2 |
T |
A |
6: 42,464,025 (GRCm39) |
Y34F |
probably damaging |
Het |
| Paqr8 |
C |
A |
1: 21,005,687 (GRCm39) |
H280Q |
possibly damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,316 (GRCm39) |
M287L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,647,843 (GRCm39) |
V323A |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,408 (GRCm39) |
V131A |
possibly damaging |
Het |
| Prima1 |
C |
A |
12: 103,163,573 (GRCm39) |
A133S |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,962,961 (GRCm39) |
L14P |
probably damaging |
Het |
| Prr23a2 |
T |
A |
9: 98,739,041 (GRCm39) |
L133H |
possibly damaging |
Het |
| Samd3 |
T |
C |
10: 26,120,396 (GRCm39) |
V157A |
possibly damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,082,871 (GRCm39) |
|
probably null |
Het |
| Tnrc6a |
A |
T |
7: 122,770,136 (GRCm39) |
N642I |
probably benign |
Het |
| Vps26a |
A |
G |
10: 62,316,325 (GRCm39) |
|
probably benign |
Het |
| Zfp112 |
T |
C |
7: 23,825,102 (GRCm39) |
S357P |
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 |
|
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 |
PCR Primer
(F):5'- CATCAGTGTCATCTACCGTGGCTC -3'
(R):5'- GCCTGTTGGGACAACTATCTCCTTC -3'
Sequencing Primer
(F):5'- GCTCCAGCCAGCGTCTC -3'
(R):5'- GGGACAATGAACATAGATTCCTTAAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation