Incidental Mutation 'R1138:Tmem108'
| ID |
95300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem108
|
| Ensembl Gene |
ENSMUSG00000042757 |
| Gene Name |
transmembrane protein 108 |
| Synonyms |
B130017P16Rik |
| MMRRC Submission |
039211-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1138 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103360146-103639036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103376168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 427
(N427S)
|
| 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: N427S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046021
Gene: ENSMUSG00000042757
AA Change: N427S
| 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: N427S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141160
Gene: ENSMUSG00000042757
AA Change: N427S
| 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: N427S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140027
Gene: ENSMUSG00000042757
AA Change: N427S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,967,497 (GRCm39) |
N974K |
probably benign |
Het |
| Brd8dc |
C |
T |
18: 34,713,297 (GRCm39) |
V258I |
probably benign |
Het |
| Bub1b |
C |
T |
2: 118,453,570 (GRCm39) |
T467I |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,440,545 (GRCm39) |
Y173H |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,670,140 (GRCm39) |
D526G |
probably benign |
Het |
| Dnajc22 |
AGACACT |
A |
15: 99,002,308 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,391,224 (GRCm39) |
N920S |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,542,011 (GRCm39) |
|
probably null |
Het |
| Hpgd |
G |
A |
8: 56,760,712 (GRCm39) |
M136I |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,888,257 (GRCm39) |
D133G |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,591,993 (GRCm39) |
M642T |
probably damaging |
Het |
| Map7d1 |
T |
C |
4: 126,135,912 (GRCm39) |
T99A |
possibly damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,851,150 (GRCm39) |
C35Y |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,412,262 (GRCm39) |
N2570K |
possibly damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,858,521 (GRCm39) |
L209Q |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,434 (GRCm39) |
I71V |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,006 (GRCm39) |
N3218K |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,761,234 (GRCm39) |
N46S |
possibly damaging |
Het |
| Sh2d3c |
G |
T |
2: 32,639,417 (GRCm39) |
R349L |
probably benign |
Het |
| Siae |
G |
A |
9: 37,553,988 (GRCm39) |
R366H |
probably 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 |
|
R0378:Tmem108
|
UTSW |
9 |
103,376,856 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0781:Tmem108
|
UTSW |
9 |
103,361,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TTTGTCAGTGGGGCTGCCTAAC -3'
(R):5'- AGCCACAGTGACTCTTGGCTTG -3'
Sequencing Primer
(F):5'- TGGGGCTGCCTAACTCAAG -3'
(R):5'- ACCCAGGCTGCCTTTGATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation