Incidental Mutation 'R0100:Tmem106a'
| ID |
64133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem106a
|
| Ensembl Gene |
ENSMUSG00000034947 |
| Gene Name |
transmembrane protein 106A |
| Synonyms |
0610008L10Rik |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
92 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101473068-101482612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101477084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 98
(S98P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039581]
[ENSMUST00000100403]
[ENSMUST00000103098]
[ENSMUST00000103099]
[ENSMUST00000107194]
[ENSMUST00000107208]
[ENSMUST00000107212]
[ENSMUST00000128614]
[ENSMUST00000107213]
[ENSMUST00000123558]
|
| AlphaFold |
Q8VC04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039581
AA Change: S98P
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000045832
Gene: ENSMUSG00000034947
AA Change: S98P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1356
|
11 |
251 |
2.2e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100403
AA Change: S98P
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000097971
Gene: ENSMUSG00000034947
AA Change: S98P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1356
|
24 |
251 |
1e-111 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103098
|
| SMART Domains |
Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
4 |
86 |
7.02e-16 |
SMART |
|
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
|
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
|
PDB:4OLE|D
|
368 |
486 |
5e-77 |
PDB |
|
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
714 |
744 |
N/A |
INTRINSIC |
|
PDB:2MJ5|B
|
935 |
981 |
2e-24 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103099
|
| SMART Domains |
Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
4 |
86 |
7.02e-16 |
SMART |
|
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
|
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
|
PDB:4OLE|D
|
368 |
486 |
5e-77 |
PDB |
|
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
714 |
744 |
N/A |
INTRINSIC |
|
PDB:2MJ5|B
|
935 |
981 |
2e-24 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107194
AA Change: S98P
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102812
Gene: ENSMUSG00000034947
AA Change: S98P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1356
|
11 |
171 |
4.8e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107208
|
| SMART Domains |
Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
4 |
86 |
7.02e-16 |
SMART |
|
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
|
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
|
PDB:4OLE|D
|
368 |
486 |
1e-77 |
PDB |
|
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
714 |
744 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107212
|
| SMART Domains |
Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
4 |
86 |
7.02e-16 |
SMART |
|
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
|
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
|
PDB:4OLE|D
|
368 |
486 |
3e-77 |
PDB |
|
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
689 |
719 |
N/A |
INTRINSIC |
|
PDB:2MJ5|B
|
910 |
956 |
2e-24 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128614
AA Change: S98P
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000122218
Gene: ENSMUSG00000034947
AA Change: S98P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1356
|
11 |
156 |
8.4e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149019
|
| SMART Domains |
Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
50 |
89 |
N/A |
INTRINSIC |
|
Pfam:N_BRCA1_IG
|
138 |
239 |
2.3e-34 |
PFAM |
|
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
|
coiled coil region
|
473 |
500 |
N/A |
INTRINSIC |
|
PDB:2MJ5|B
|
659 |
705 |
1e-24 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107213
|
| SMART Domains |
Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
4 |
86 |
7.02e-16 |
SMART |
|
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
|
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
|
PDB:4OLE|D
|
368 |
486 |
2e-77 |
PDB |
|
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
677 |
707 |
N/A |
INTRINSIC |
|
PDB:2MJ5|B
|
898 |
944 |
2e-24 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123558
|
| SMART Domains |
Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
4 |
86 |
7.02e-16 |
SMART |
|
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
|
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
|
PDB:4OLE|D
|
368 |
486 |
2e-77 |
PDB |
|
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
|
coiled coil region
|
714 |
744 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
| Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
| Ccdc51 |
C |
T |
9: 108,921,066 (GRCm39) |
Q318* |
probably null |
Het |
| Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
| Dbr1 |
T |
A |
9: 99,465,722 (GRCm39) |
D433E |
probably benign |
Het |
| Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Fam81a |
C |
T |
9: 70,010,091 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
| Fbxo47 |
C |
T |
11: 97,759,432 (GRCm39) |
G165S |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
| Gpatch2 |
C |
A |
1: 186,958,014 (GRCm39) |
A123E |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,245,857 (GRCm39) |
L705P |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,531,783 (GRCm39) |
|
probably null |
Het |
| Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,747,260 (GRCm39) |
Y829H |
probably damaging |
Het |
| Mocs3 |
C |
T |
2: 168,073,110 (GRCm39) |
R186C |
probably damaging |
Het |
| Or10al5 |
T |
C |
17: 38,063,594 (GRCm39) |
F283S |
probably benign |
Het |
| Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,001,431 (GRCm39) |
I42F |
probably benign |
Het |
| Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,112,823 (GRCm39) |
T170A |
probably benign |
Het |
| Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,232 (GRCm39) |
P566Q |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
possibly damaging |
Het |
|
| Other mutations in Tmem106a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02122:Tmem106a
|
APN |
11 |
101,481,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Tmem106a
|
APN |
11 |
101,481,219 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02967:Tmem106a
|
APN |
11 |
101,477,121 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03169:Tmem106a
|
APN |
11 |
101,481,284 (GRCm39) |
unclassified |
probably benign |
|
|
R0100:Tmem106a
|
UTSW |
11 |
101,477,084 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1499:Tmem106a
|
UTSW |
11 |
101,481,263 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1875:Tmem106a
|
UTSW |
11 |
101,477,204 (GRCm39) |
unclassified |
probably benign |
|
|
R4843:Tmem106a
|
UTSW |
11 |
101,477,021 (GRCm39) |
unclassified |
probably benign |
|
|
R6119:Tmem106a
|
UTSW |
11 |
101,474,576 (GRCm39) |
nonsense |
probably null |
|
|
R8675:Tmem106a
|
UTSW |
11 |
101,481,222 (GRCm39) |
nonsense |
probably null |
|
|
R8699:Tmem106a
|
UTSW |
11 |
101,473,120 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACTGGGCATTATGTCAATGGGG -3'
(R):5'- CAGAATGGTCTGCATACCACGAGG -3'
Sequencing Primer
(F):5'- gttggggtgaaagccagg -3'
(R):5'- ACCCCTTAGGCTACATGGTG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation