Incidental Mutation 'R0378:Tmem108'
ID |
36475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem108
|
Ensembl Gene |
ENSMUSG00000042757 |
Gene Name |
transmembrane protein 108 |
Synonyms |
B130017P16Rik |
MMRRC Submission |
038584-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0378 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
103360146-103639036 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103376856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 198
(R198G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049452]
[ENSMUST00000189066]
[ENSMUST00000189588]
|
AlphaFold |
Q8BHE4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049452
AA Change: R198G
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000046021 Gene: ENSMUSG00000042757 AA Change: R198G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:TMEM108
|
61 |
574 |
1.6e-275 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189066
AA Change: R198G
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141160 Gene: ENSMUSG00000042757 AA Change: R198G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
low complexity region
|
132 |
179 |
N/A |
INTRINSIC |
low complexity region
|
292 |
314 |
N/A |
INTRINSIC |
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189588
AA Change: R198G
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140027 Gene: ENSMUSG00000042757 AA Change: R198G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
low complexity region
|
132 |
179 |
N/A |
INTRINSIC |
low complexity region
|
292 |
314 |
N/A |
INTRINSIC |
low complexity region
|
391 |
410 |
N/A |
INTRINSIC |
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
95% (40/42) |
MGI Phenotype |
PHENOTYPE: Mice with drastically reduced expression exhibit decreased excitatory postsynaptic currents of dentate gyrate granule neurons, impaired sensorimotor gating, and behavioral deficits. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
C |
A |
8: 114,469,749 (GRCm39) |
R651L |
probably damaging |
Het |
Amd1 |
T |
C |
10: 40,165,380 (GRCm39) |
D317G |
possibly damaging |
Het |
Artn |
A |
G |
4: 117,784,815 (GRCm39) |
|
probably benign |
Het |
Bub1b |
T |
A |
2: 118,471,604 (GRCm39) |
V988E |
probably benign |
Het |
Cyp2c65 |
G |
T |
19: 39,061,662 (GRCm39) |
C216F |
probably benign |
Het |
Cyp3a11 |
T |
C |
5: 145,805,417 (GRCm39) |
E200G |
probably benign |
Het |
Cyp3a25 |
T |
A |
5: 145,923,652 (GRCm39) |
K330N |
probably damaging |
Het |
Duox2 |
C |
A |
2: 122,115,064 (GRCm39) |
V1138L |
probably benign |
Het |
Erc2 |
A |
G |
14: 27,733,651 (GRCm39) |
D567G |
probably damaging |
Het |
Eri2 |
A |
G |
7: 119,393,139 (GRCm39) |
|
probably null |
Het |
Foxa3 |
A |
G |
7: 18,757,294 (GRCm39) |
Y17H |
probably damaging |
Het |
Fto |
T |
C |
8: 92,200,940 (GRCm39) |
S324P |
probably damaging |
Het |
Get3 |
A |
T |
8: 85,751,893 (GRCm39) |
M1K |
probably null |
Het |
Gls2 |
T |
G |
10: 128,043,180 (GRCm39) |
L457R |
probably benign |
Het |
Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,246,786 (GRCm39) |
R1508* |
probably null |
Het |
Kif21a |
T |
C |
15: 90,853,977 (GRCm39) |
|
probably null |
Het |
Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
Lgr5 |
T |
C |
10: 115,290,404 (GRCm39) |
D456G |
probably damaging |
Het |
Mau2 |
A |
G |
8: 70,483,305 (GRCm39) |
S186P |
probably damaging |
Het |
Msr1 |
T |
C |
8: 40,042,423 (GRCm39) |
D384G |
possibly damaging |
Het |
Ncf4 |
T |
C |
15: 78,137,503 (GRCm39) |
V93A |
probably damaging |
Het |
Oas1f |
T |
G |
5: 120,994,489 (GRCm39) |
C337G |
probably damaging |
Het |
Or10al3 |
A |
G |
17: 38,011,932 (GRCm39) |
M124V |
probably damaging |
Het |
Or5p58 |
A |
T |
7: 107,694,429 (GRCm39) |
F116Y |
probably benign |
Het |
Or6c33 |
T |
A |
10: 129,853,872 (GRCm39) |
L214H |
probably damaging |
Het |
Pwwp3a |
C |
A |
10: 80,074,713 (GRCm39) |
|
probably null |
Het |
Rasl10b |
T |
C |
11: 83,309,519 (GRCm39) |
S159P |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Smg8 |
C |
A |
11: 86,971,249 (GRCm39) |
D841Y |
probably damaging |
Het |
Sox7 |
T |
C |
14: 64,181,398 (GRCm39) |
V65A |
probably damaging |
Het |
Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
Srsf10 |
A |
G |
4: 135,590,501 (GRCm39) |
Y142C |
possibly damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tcerg1l |
A |
G |
7: 137,878,384 (GRCm39) |
V326A |
probably benign |
Het |
Tcl1b5 |
T |
A |
12: 105,145,326 (GRCm39) |
W97R |
probably damaging |
Het |
Ube2ql1 |
T |
A |
13: 69,887,017 (GRCm39) |
Q148L |
possibly damaging |
Het |
Vmn1r5 |
A |
T |
6: 56,962,570 (GRCm39) |
I82L |
probably benign |
Het |
Wdr6 |
A |
T |
9: 108,453,063 (GRCm39) |
S273R |
probably damaging |
Het |
Ylpm1 |
C |
T |
12: 85,043,850 (GRCm39) |
|
probably benign |
Het |
Zfp90 |
G |
A |
8: 107,152,138 (GRCm39) |
R617Q |
possibly damaging |
Het |
|
Other mutations in Tmem108 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01633:Tmem108
|
APN |
9 |
103,361,950 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02008:Tmem108
|
APN |
9 |
103,366,439 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02318:Tmem108
|
APN |
9 |
103,376,981 (GRCm39) |
missense |
probably benign |
0.14 |
R0019:Tmem108
|
UTSW |
9 |
103,366,539 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0092:Tmem108
|
UTSW |
9 |
103,366,504 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0781:Tmem108
|
UTSW |
9 |
103,361,889 (GRCm39) |
missense |
probably damaging |
0.98 |
R1138:Tmem108
|
UTSW |
9 |
103,376,168 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2090:Tmem108
|
UTSW |
9 |
103,361,976 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2137:Tmem108
|
UTSW |
9 |
103,377,162 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2520:Tmem108
|
UTSW |
9 |
103,366,481 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4724:Tmem108
|
UTSW |
9 |
103,376,688 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4883:Tmem108
|
UTSW |
9 |
103,376,276 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5358:Tmem108
|
UTSW |
9 |
103,376,717 (GRCm39) |
missense |
probably damaging |
0.98 |
R6337:Tmem108
|
UTSW |
9 |
103,376,960 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6888:Tmem108
|
UTSW |
9 |
103,376,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R7223:Tmem108
|
UTSW |
9 |
103,376,733 (GRCm39) |
missense |
not run |
|
R8014:Tmem108
|
UTSW |
9 |
103,376,606 (GRCm39) |
missense |
probably benign |
0.04 |
R8139:Tmem108
|
UTSW |
9 |
103,377,084 (GRCm39) |
missense |
probably benign |
0.02 |
R8355:Tmem108
|
UTSW |
9 |
103,377,069 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8455:Tmem108
|
UTSW |
9 |
103,377,069 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8937:Tmem108
|
UTSW |
9 |
103,361,981 (GRCm39) |
missense |
probably benign |
0.15 |
R8940:Tmem108
|
UTSW |
9 |
103,377,156 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGGTGTGACAGCAAGCCAAG -3'
(R):5'- TATCTCATCCAGAAGGGCACCCTC -3'
Sequencing Primer
(F):5'- TGATAAAGCCTGGCTTGTCC -3'
(R):5'- GACACCACGTCTACAGTGATGG -3'
|
Posted On |
2013-05-09 |