Incidental Mutation 'R8687:Tmem102'
| ID |
662091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem102
|
| Ensembl Gene |
ENSMUSG00000089876 |
| Gene Name |
transmembrane protein 102 |
| Synonyms |
Cbap, Tmem102-ps |
| MMRRC Submission |
068542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R8687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69694429-69696450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69695441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 177
(H177R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011285]
[ENSMUST00000051025]
[ENSMUST00000102585]
|
| AlphaFold |
Q3UPR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011285
|
| SMART Domains |
Protein: ENSMUSP00000011285
Gene: ENSMUSG00000042826
| Domain | Start | End | E-Value | Type |
|---|
|
FGF
|
69 |
172 |
6.95e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051025
AA Change: H177R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000132164
Gene: ENSMUSG00000089876
AA Change: H177R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
|
Mab-21
|
191 |
494 |
3.31e-43 |
SMART |
|
low complexity region
|
498 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102585
|
| SMART Domains |
Protein: ENSMUSP00000099645
Gene: ENSMUSG00000042826
| Domain | Start | End | E-Value | Type |
|---|
|
FGF
|
69 |
200 |
3.43e-66 |
SMART |
|
| Meta Mutation Damage Score |
0.0820 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
92% (22/24) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap45 |
C |
T |
10: 79,852,621 (GRCm39) |
|
probably benign |
Het |
| B3galt4 |
A |
G |
17: 34,169,819 (GRCm39) |
S140P |
probably damaging |
Het |
| Cog6 |
C |
T |
3: 52,892,338 (GRCm39) |
V624I |
probably benign |
Het |
| Cysrt1 |
A |
G |
2: 25,129,399 (GRCm39) |
S38P |
possibly damaging |
Het |
| Eme2 |
C |
T |
17: 25,113,813 (GRCm39) |
V71M |
possibly damaging |
Het |
| Eva1c |
C |
A |
16: 90,687,433 (GRCm39) |
T223K |
probably benign |
Het |
| Gm3633 |
A |
T |
14: 42,462,648 (GRCm39) |
L81H |
|
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Iqch |
A |
T |
9: 63,432,067 (GRCm39) |
W443R |
probably damaging |
Het |
| Itgb1 |
T |
C |
8: 129,442,697 (GRCm39) |
V294A |
probably damaging |
Het |
| Kif1b |
T |
A |
4: 149,345,620 (GRCm39) |
K407* |
probably null |
Het |
| Kyat1 |
A |
G |
2: 30,075,759 (GRCm39) |
S377P |
probably benign |
Het |
| Mical3 |
A |
G |
6: 120,936,438 (GRCm39) |
S1363P |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,435,636 (GRCm39) |
R962S |
probably benign |
Het |
| Pnma8a |
T |
G |
7: 16,694,520 (GRCm39) |
V125G |
probably damaging |
Het |
| Ptpdc1 |
G |
A |
13: 48,740,136 (GRCm39) |
P432S |
possibly damaging |
Het |
| Rhobtb2 |
G |
A |
14: 70,038,104 (GRCm39) |
T52I |
probably damaging |
Het |
| Slco1a8 |
C |
T |
6: 141,939,991 (GRCm39) |
G171S |
probably damaging |
Het |
| Spop |
G |
A |
11: 95,361,337 (GRCm39) |
|
probably benign |
Het |
| Stam |
TGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
TGCTGCTGCTGCTG |
2: 14,151,096 (GRCm39) |
|
probably benign |
Het |
| Stam |
CCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
CCTGCCGCTGCTGCTGCTG |
2: 14,151,091 (GRCm39) |
|
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,477,170 (GRCm39) |
T748A |
possibly damaging |
Het |
| Ttc27 |
T |
A |
17: 75,046,679 (GRCm39) |
Y247N |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,288,776 (GRCm39) |
I292T |
probably damaging |
Het |
|
| Other mutations in Tmem102 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02528:Tmem102
|
APN |
11 |
69,694,532 (GRCm39) |
splice site |
probably null |
|
|
R1109:Tmem102
|
UTSW |
11 |
69,695,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1396:Tmem102
|
UTSW |
11 |
69,695,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Tmem102
|
UTSW |
11 |
69,695,225 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2138:Tmem102
|
UTSW |
11 |
69,695,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Tmem102
|
UTSW |
11 |
69,695,363 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4716:Tmem102
|
UTSW |
11 |
69,695,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4776:Tmem102
|
UTSW |
11 |
69,695,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Tmem102
|
UTSW |
11 |
69,694,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6609:Tmem102
|
UTSW |
11 |
69,695,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Tmem102
|
UTSW |
11 |
69,694,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Tmem102
|
UTSW |
11 |
69,695,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7835:Tmem102
|
UTSW |
11 |
69,695,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Tmem102
|
UTSW |
11 |
69,695,141 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9650:Tmem102
|
UTSW |
11 |
69,695,869 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1186:Tmem102
|
UTSW |
11 |
69,695,927 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Tmem102
|
UTSW |
11 |
69,695,902 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1187:Tmem102
|
UTSW |
11 |
69,695,927 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Tmem102
|
UTSW |
11 |
69,695,902 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1188:Tmem102
|
UTSW |
11 |
69,695,927 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Tmem102
|
UTSW |
11 |
69,695,902 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1189:Tmem102
|
UTSW |
11 |
69,695,927 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Tmem102
|
UTSW |
11 |
69,695,902 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1190:Tmem102
|
UTSW |
11 |
69,695,927 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Tmem102
|
UTSW |
11 |
69,695,902 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1191:Tmem102
|
UTSW |
11 |
69,695,927 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Tmem102
|
UTSW |
11 |
69,695,902 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1192:Tmem102
|
UTSW |
11 |
69,695,927 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Tmem102
|
UTSW |
11 |
69,695,902 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTTCCAATGGCTCAGGAG -3'
(R):5'- TCGCGAAGGTTCCCTAGATTTAG -3'
Sequencing Primer
(F):5'- CCAATGGCTCAGGAGTTTCAG -3'
(R):5'- GACCTCATTATGATGCCGGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation