Incidental Mutation 'R8355:Tmem108'
| ID |
645735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem108
|
| Ensembl Gene |
ENSMUSG00000042757 |
| Gene Name |
transmembrane protein 108 |
| Synonyms |
B130017P16Rik |
| MMRRC Submission |
067869-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103360146-103639036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103377069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 127
(S127P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049452]
[ENSMUST00000189066]
[ENSMUST00000189588]
|
| AlphaFold |
Q8BHE4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049452
AA Change: S127P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000046021
Gene: ENSMUSG00000042757
AA Change: S127P
| 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: S127P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141160
Gene: ENSMUSG00000042757
AA Change: S127P
| 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: S127P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140027
Gene: ENSMUSG00000042757
AA Change: S127P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,567 (GRCm39) |
C398* |
probably null |
Het |
| Amy2a1 |
T |
A |
3: 113,324,045 (GRCm39) |
D165V |
probably benign |
Het |
| Atf6b |
A |
G |
17: 34,867,197 (GRCm39) |
D63G |
probably benign |
Het |
| BC024139 |
T |
C |
15: 76,004,007 (GRCm39) |
D753G |
probably benign |
Het |
| Dnah3 |
T |
G |
7: 119,551,431 (GRCm39) |
T2963P |
probably damaging |
Het |
| Fanci |
G |
T |
7: 79,085,029 (GRCm39) |
L818F |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gm4559 |
C |
A |
7: 141,827,694 (GRCm39) |
C136F |
unknown |
Het |
| Gm45844 |
G |
A |
7: 7,281,221 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
T |
A |
5: 25,559,499 (GRCm39) |
|
probably null |
Het |
| Lpo |
G |
A |
11: 87,705,114 (GRCm39) |
L407F |
probably damaging |
Het |
| Mus81 |
T |
C |
19: 5,534,220 (GRCm39) |
Y366C |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,364,528 (GRCm39) |
D1292G |
probably damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,132,800 (GRCm39) |
I309N |
probably damaging |
Het |
| Nufip2 |
C |
T |
11: 77,583,259 (GRCm39) |
T391I |
probably damaging |
Het |
| Or5g25 |
T |
A |
2: 85,478,485 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,211,715 (GRCm39) |
Y74C |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,224,069 (GRCm39) |
V935E |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,422,846 (GRCm39) |
I994M |
probably benign |
Het |
| Sgcz |
T |
C |
8: 38,190,239 (GRCm39) |
I96V |
probably benign |
Het |
| Tmem178b |
G |
A |
6: 40,231,869 (GRCm39) |
V168I |
unknown |
Het |
| Tut1 |
T |
C |
19: 8,936,626 (GRCm39) |
V150A |
probably benign |
Het |
| Txnl4a |
T |
A |
18: 80,250,539 (GRCm39) |
L45Q |
probably damaging |
Het |
| V1ra8 |
C |
T |
6: 90,180,447 (GRCm39) |
R217W |
probably damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,259,848 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- TTTCCTTCCTGGCCAAGTGG -3'
(R):5'- GTGCTGACACTGAATCCTACAC -3'
Sequencing Primer
(F):5'- AAGTGGCCACCCGGTAC -3'
(R):5'- TGACACTGAATCCTACACCTGATGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation