Incidental Mutation 'R0693:Tbc1d21'
| ID |
63405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d21
|
| Ensembl Gene |
ENSMUSG00000036244 |
| Gene Name |
TBC1 domain family, member 21 |
| Synonyms |
1700095K08Rik, MgcRabGAP |
| MMRRC Submission |
038878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R0693 (G1)
|
| Quality Score |
101 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
58266987-58277738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58268570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 263
(T263M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040217]
[ENSMUST00000213847]
|
| AlphaFold |
Q9D9D3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040217
AA Change: T263M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037525
Gene: ENSMUSG00000036244
AA Change: T263M
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
54 |
291 |
1.76e-4 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000213847
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef12 |
A |
T |
9: 42,929,697 (GRCm39) |
N199K |
probably damaging |
Het |
| Ccnj |
T |
A |
19: 40,825,551 (GRCm39) |
L87H |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,145,908 (GRCm39) |
T978A |
possibly damaging |
Het |
| Garnl3 |
A |
G |
2: 32,975,919 (GRCm39) |
F16L |
probably damaging |
Het |
| Gbgt1 |
G |
A |
2: 28,394,842 (GRCm39) |
G160D |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,058,188 (GRCm39) |
D477G |
probably benign |
Het |
| Gp1ba |
T |
C |
11: 70,531,284 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,723,943 (GRCm39) |
T492S |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,107,027 (GRCm39) |
T78A |
possibly damaging |
Het |
| Klhl9 |
T |
G |
4: 88,638,527 (GRCm39) |
K571N |
probably benign |
Het |
| Msl3l2 |
G |
A |
10: 55,991,947 (GRCm39) |
R224Q |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,410,034 (GRCm39) |
T50A |
possibly damaging |
Het |
| Or7g32 |
G |
A |
9: 19,389,268 (GRCm39) |
Q90* |
probably null |
Het |
| Or8b40 |
A |
G |
9: 38,027,325 (GRCm39) |
T78A |
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,572,378 (GRCm39) |
Q426L |
probably benign |
Het |
| Rnf215 |
G |
A |
11: 4,090,401 (GRCm39) |
|
probably null |
Het |
| Sp100 |
T |
A |
1: 85,594,726 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
G |
A |
11: 35,915,636 (GRCm39) |
T1966M |
probably damaging |
Het |
| Tnni3k |
T |
C |
3: 154,667,609 (GRCm39) |
Y268C |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,402,637 (GRCm39) |
T2477A |
probably damaging |
Het |
|
| Other mutations in Tbc1d21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00845:Tbc1d21
|
APN |
9 |
58,269,745 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02118:Tbc1d21
|
APN |
9 |
58,267,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02651:Tbc1d21
|
APN |
9 |
58,270,384 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCATGGAACTGCATCCTGCTC -3'
(R):5'- AAACCCACCACCTGTTGCTGTC -3'
Sequencing Primer
(F):5'- TCTCCCCTGGAGGCAAAAG -3'
(R):5'- CTGGCATGGACTATCCCATAATG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation