Incidental Mutation 'R6609:Tmem102'
ID |
525840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem102
|
Ensembl Gene |
ENSMUSG00000089876 |
Gene Name |
transmembrane protein 102 |
Synonyms |
Cbap, Tmem102-ps |
MMRRC Submission |
044732-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R6609 (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 A
at 69695940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 40
(L40F)
|
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 damaging
Transcript: ENSMUST00000051025
AA Change: L40F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132164 Gene: ENSMUSG00000089876 AA Change: L40F
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
C |
T |
12: 118,892,497 (GRCm39) |
V421I |
probably damaging |
Het |
Bpifb3 |
T |
A |
2: 153,762,568 (GRCm39) |
|
probably null |
Het |
C1rl |
T |
C |
6: 124,485,583 (GRCm39) |
V318A |
probably benign |
Het |
Cacna1b |
C |
T |
2: 24,543,061 (GRCm39) |
V1264M |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,041,129 (GRCm39) |
D1551G |
probably benign |
Het |
Cdc42bpa |
T |
G |
1: 179,928,839 (GRCm39) |
|
probably null |
Het |
Cdc7 |
G |
A |
5: 107,120,924 (GRCm39) |
R182H |
probably benign |
Het |
Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
Cyth1 |
A |
T |
11: 118,061,686 (GRCm39) |
L309Q |
probably damaging |
Het |
Dnah6 |
G |
A |
6: 73,030,678 (GRCm39) |
T3378I |
possibly damaging |
Het |
Get4 |
A |
G |
5: 139,254,820 (GRCm39) |
|
probably benign |
Het |
Gm136 |
T |
A |
4: 34,746,526 (GRCm39) |
M162L |
probably benign |
Het |
Grik5 |
G |
T |
7: 24,714,951 (GRCm39) |
S681* |
probably null |
Het |
Hsf5 |
C |
T |
11: 87,526,779 (GRCm39) |
P484S |
probably damaging |
Het |
Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
Kl |
A |
T |
5: 150,912,427 (GRCm39) |
K725N |
probably benign |
Het |
Lama3 |
G |
A |
18: 12,646,735 (GRCm39) |
V144M |
probably damaging |
Het |
Lrrc14 |
T |
C |
15: 76,598,453 (GRCm39) |
V363A |
probably benign |
Het |
Mettl15 |
T |
C |
2: 108,967,687 (GRCm39) |
R200G |
probably null |
Het |
Mki67 |
T |
C |
7: 135,301,558 (GRCm39) |
T1159A |
possibly damaging |
Het |
Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
Ndufb5 |
C |
G |
3: 32,795,832 (GRCm39) |
T8R |
probably benign |
Het |
Or4f60 |
T |
C |
2: 111,902,509 (GRCm39) |
M140V |
probably benign |
Het |
Or6ae1 |
C |
A |
7: 139,742,476 (GRCm39) |
R129L |
probably benign |
Het |
Pde1a |
T |
A |
2: 79,736,484 (GRCm39) |
D15V |
probably damaging |
Het |
Plcg2 |
G |
A |
8: 118,294,909 (GRCm39) |
G191S |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,408,829 (GRCm39) |
T1895A |
probably damaging |
Het |
Pxdn |
T |
C |
12: 30,052,940 (GRCm39) |
V1039A |
probably benign |
Het |
Slc26a5 |
T |
C |
5: 22,024,717 (GRCm39) |
I456V |
possibly damaging |
Het |
Smco4 |
C |
T |
9: 15,456,031 (GRCm39) |
A39V |
probably damaging |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
Zfp985 |
A |
T |
4: 147,667,578 (GRCm39) |
M149L |
probably benign |
Het |
Zfp985 |
T |
C |
4: 147,668,124 (GRCm39) |
F331L |
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 |
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 |
R8687:Tmem102
|
UTSW |
11 |
69,695,441 (GRCm39) |
missense |
probably benign |
0.00 |
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'- AAAGGGTCGTGAAGGTATCCTG -3'
(R):5'- GGCCTGTCTGTAACCCTTGATC -3'
Sequencing Primer
(F):5'- AAGGTATCCTGGTTCAAAGTCG -3'
(R):5'- GTAACCCTTGATCTGCCTCAGAGG -3'
|
Posted On |
2018-06-22 |