Incidental Mutation 'R2374:Tbc1d12'
| ID |
328534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d12
|
| Ensembl Gene |
ENSMUSG00000048720 |
| Gene Name |
TBC1D12: TBC1 domain family, member 12 |
| Synonyms |
|
| MMRRC Submission |
040353-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.537)
|
| Stock # |
R2374 (G1)
|
| Quality Score |
67 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
38825035-38908103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38825614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 155
(L155Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037302]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037302
AA Change: L155Q
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: L155Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
242 |
N/A |
INTRINSIC |
|
Blast:TBC
|
321 |
371 |
7e-14 |
BLAST |
|
TBC
|
404 |
638 |
1.05e-54 |
SMART |
|
| Meta Mutation Damage Score |
0.0883 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.7%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
C |
T |
18: 80,174,202 (GRCm39) |
R69Q |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,939,545 (GRCm39) |
D133G |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Clec4b1 |
T |
G |
6: 123,027,597 (GRCm39) |
L18R |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,043,288 (GRCm39) |
V706I |
possibly damaging |
Het |
| Dhx30 |
A |
G |
9: 109,920,632 (GRCm39) |
L294P |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,662,494 (GRCm39) |
Y60H |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,074,711 (GRCm39) |
L504P |
probably damaging |
Het |
| Gm10754 |
A |
G |
10: 97,518,013 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,764 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,291,780 (GRCm39) |
N3424S |
probably damaging |
Het |
| Itgb2 |
G |
A |
10: 77,395,515 (GRCm39) |
V539I |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
| Ly6e |
A |
G |
15: 74,830,470 (GRCm39) |
S107G |
probably damaging |
Het |
| Mc3r |
G |
A |
2: 172,091,074 (GRCm39) |
A99T |
possibly damaging |
Het |
| Myo15a |
T |
G |
11: 60,369,669 (GRCm39) |
S810A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,153,669 (GRCm39) |
W2419R |
probably damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,257,900 (GRCm39) |
T560S |
possibly damaging |
Het |
| Or2n1c |
T |
C |
17: 38,519,958 (GRCm39) |
M274T |
probably damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,795 (GRCm39) |
S41R |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,627,411 (GRCm39) |
L697P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,059,517 (GRCm39) |
Y2443H |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,725,845 (GRCm39) |
I393T |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,492,422 (GRCm39) |
M816K |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,475,050 (GRCm39) |
D398G |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,543 (GRCm39) |
S249T |
probably benign |
Het |
| Vmn2r17 |
C |
A |
5: 109,575,104 (GRCm39) |
P137Q |
probably benign |
Het |
| Zbtb26 |
A |
G |
2: 37,326,497 (GRCm39) |
S180P |
probably benign |
Het |
| Zfy1 |
A |
T |
Y: 726,391 (GRCm39) |
L458Q |
probably damaging |
Het |
| Zfy1 |
G |
C |
Y: 726,392 (GRCm39) |
L458V |
possibly damaging |
Het |
| Zmpste24 |
T |
C |
4: 120,931,734 (GRCm39) |
E297G |
probably benign |
Het |
|
| Other mutations in Tbc1d12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Tbc1d12
|
APN |
19 |
38,884,487 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01583:Tbc1d12
|
APN |
19 |
38,871,176 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01667:Tbc1d12
|
APN |
19 |
38,902,744 (GRCm39) |
splice site |
probably benign |
|
|
IGL02207:Tbc1d12
|
APN |
19 |
38,905,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03348:Tbc1d12
|
APN |
19 |
38,905,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0844:Tbc1d12
|
UTSW |
19 |
38,825,515 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0919:Tbc1d12
|
UTSW |
19 |
38,902,493 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1440:Tbc1d12
|
UTSW |
19 |
38,902,796 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1845:Tbc1d12
|
UTSW |
19 |
38,899,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3499:Tbc1d12
|
UTSW |
19 |
38,884,478 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4704:Tbc1d12
|
UTSW |
19 |
38,889,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Tbc1d12
|
UTSW |
19 |
38,854,169 (GRCm39) |
nonsense |
probably null |
|
|
R5089:Tbc1d12
|
UTSW |
19 |
38,905,232 (GRCm39) |
nonsense |
probably null |
|
|
R5781:Tbc1d12
|
UTSW |
19 |
38,871,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7237:Tbc1d12
|
UTSW |
19 |
38,887,346 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7978:Tbc1d12
|
UTSW |
19 |
38,905,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8283:Tbc1d12
|
UTSW |
19 |
38,825,353 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8304:Tbc1d12
|
UTSW |
19 |
38,825,824 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8376:Tbc1d12
|
UTSW |
19 |
38,889,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8931:Tbc1d12
|
UTSW |
19 |
38,854,098 (GRCm39) |
missense |
probably benign |
|
|
R8944:Tbc1d12
|
UTSW |
19 |
38,899,510 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9206:Tbc1d12
|
UTSW |
19 |
38,825,442 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9252:Tbc1d12
|
UTSW |
19 |
38,899,477 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9258:Tbc1d12
|
UTSW |
19 |
38,889,823 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9430:Tbc1d12
|
UTSW |
19 |
38,884,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9434:Tbc1d12
|
UTSW |
19 |
38,902,461 (GRCm39) |
missense |
probably benign |
0.05 |
|
RF010:Tbc1d12
|
UTSW |
19 |
38,825,384 (GRCm39) |
small deletion |
probably benign |
|
|
RF011:Tbc1d12
|
UTSW |
19 |
38,825,401 (GRCm39) |
small deletion |
probably benign |
|
|
RF039:Tbc1d12
|
UTSW |
19 |
38,825,401 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGACCAACGGAGACTC -3'
(R):5'- ACCTGGCGAAGAAATCCG -3'
Sequencing Primer
(F):5'- CAACGGAGACTCGGGCTTTTTG -3'
(R):5'- CTGGCGAAGAAATCCGCGAAG -3'
|
| Posted On |
2015-07-10 |
Incidental Mutation