Incidental Mutation 'IGL00845:Tbc1d21'
| ID |
14382 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d21
|
| Ensembl Gene |
ENSMUSG00000036244 |
| Gene Name |
TBC1 domain family, member 21 |
| Synonyms |
1700095K08Rik, MgcRabGAP |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL00845
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
58266987-58277738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58269745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 198
(V198I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040217]
[ENSMUST00000213847]
|
| AlphaFold |
Q9D9D3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040217
AA Change: V198I
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037525
Gene: ENSMUSG00000036244
AA Change: V198I
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
54 |
291 |
1.76e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213847
AA Change: V198I
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,823,174 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,038,250 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
A |
1: 150,480,757 (GRCm39) |
S4473F |
probably damaging |
Het |
| Mcf2 |
T |
A |
X: 59,172,446 (GRCm39) |
D429V |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,368,605 (GRCm39) |
D455G |
probably damaging |
Het |
| Myom1 |
T |
C |
17: 71,391,424 (GRCm39) |
Y978H |
probably damaging |
Het |
| Naglu |
A |
G |
11: 100,967,778 (GRCm39) |
E576G |
possibly damaging |
Het |
| Rbm20 |
T |
C |
19: 53,806,380 (GRCm39) |
Y487H |
probably damaging |
Het |
| Slc12a1 |
T |
A |
2: 125,030,158 (GRCm39) |
C577S |
probably damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,215,696 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
C |
T |
1: 12,867,191 (GRCm39) |
T125I |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,440,847 (GRCm39) |
V351A |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,937,607 (GRCm39) |
D1147G |
probably benign |
Het |
| Tmem185a |
A |
T |
X: 69,505,923 (GRCm39) |
|
probably null |
Het |
| Vps50 |
C |
T |
6: 3,532,177 (GRCm39) |
Q227* |
probably null |
Het |
| Zfp599 |
T |
A |
9: 22,162,814 (GRCm39) |
|
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,794,406 (GRCm39) |
V908A |
probably benign |
Het |
|
| Other mutations in Tbc1d21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02118:Tbc1d21
|
APN |
9 |
58,267,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02651:Tbc1d21
|
APN |
9 |
58,270,384 (GRCm39) |
nonsense |
probably null |
|
|
R0693:Tbc1d21
|
UTSW |
9 |
58,268,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Tbc1d21
|
UTSW |
9 |
58,267,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1454:Tbc1d21
|
UTSW |
9 |
58,270,096 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1776:Tbc1d21
|
UTSW |
9 |
58,274,011 (GRCm39) |
splice site |
probably benign |
|
|
R2230:Tbc1d21
|
UTSW |
9 |
58,270,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Tbc1d21
|
UTSW |
9 |
58,270,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3052:Tbc1d21
|
UTSW |
9 |
58,270,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3053:Tbc1d21
|
UTSW |
9 |
58,270,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6348:Tbc1d21
|
UTSW |
9 |
58,268,501 (GRCm39) |
missense |
probably benign |
|
|
R6805:Tbc1d21
|
UTSW |
9 |
58,268,571 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7032:Tbc1d21
|
UTSW |
9 |
58,274,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7153:Tbc1d21
|
UTSW |
9 |
58,270,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Tbc1d21
|
UTSW |
9 |
58,268,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Tbc1d21
|
UTSW |
9 |
58,269,306 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8835:Tbc1d21
|
UTSW |
9 |
58,273,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9316:Tbc1d21
|
UTSW |
9 |
58,274,215 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9498:Tbc1d21
|
UTSW |
9 |
58,273,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9606:Tbc1d21
|
UTSW |
9 |
58,268,487 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Posted On |
2012-12-06 |
Incidental Mutation