Incidental Mutation 'R6285:Tbc1d2'
| ID |
508157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d2
|
| Ensembl Gene |
ENSMUSG00000039813 |
| Gene Name |
TBC1 domain family, member 2 |
| Synonyms |
PARIS-1, LOC381605, PARIS1, A630005A06Rik |
| MMRRC Submission |
044455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R6285 (G1)
|
| Quality Score |
109.008 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
46604390-46650209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46615045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 546
(V546E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084621]
|
| AlphaFold |
B1AVH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084621
AA Change: V546E
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: V546E
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
44 |
143 |
1.94e-11 |
SMART |
|
low complexity region
|
147 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
333 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
410 |
N/A |
INTRINSIC |
|
Blast:TBC
|
454 |
491 |
3e-14 |
BLAST |
|
low complexity region
|
526 |
539 |
N/A |
INTRINSIC |
|
Blast:TBC
|
557 |
591 |
3e-10 |
BLAST |
|
TBC
|
616 |
834 |
1.63e-60 |
SMART |
|
coiled coil region
|
869 |
906 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.9%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
T |
3: 36,136,324 (GRCm39) |
M370L |
probably benign |
Het |
| Aimp1 |
A |
G |
3: 132,373,265 (GRCm39) |
M225T |
possibly damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,824,950 (GRCm39) |
I809V |
possibly damaging |
Het |
| Bbs10 |
A |
G |
10: 111,135,622 (GRCm39) |
Y245C |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,520,157 (GRCm39) |
F1572Y |
probably damaging |
Het |
| Cd79a |
A |
G |
7: 24,598,772 (GRCm39) |
N107S |
possibly damaging |
Het |
| Cdc7 |
G |
A |
5: 107,130,925 (GRCm39) |
A428T |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,359,191 (GRCm39) |
T974A |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,829,120 (GRCm39) |
N261K |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,241,001 (GRCm39) |
D8V |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,952,185 (GRCm39) |
D571G |
probably damaging |
Het |
| Cpe |
A |
C |
8: 65,070,645 (GRCm39) |
V200G |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,444,231 (GRCm39) |
|
probably null |
Het |
| D5Ertd579e |
A |
C |
5: 36,772,921 (GRCm39) |
C491W |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,252,856 (GRCm39) |
I183T |
probably damaging |
Het |
| Dennd1a |
A |
T |
2: 37,742,453 (GRCm39) |
H437Q |
possibly damaging |
Het |
| Dido1 |
C |
T |
2: 180,302,940 (GRCm39) |
A1655T |
probably benign |
Het |
| Eva1b |
A |
G |
4: 126,043,278 (GRCm39) |
D106G |
probably damaging |
Het |
| Evc2 |
G |
T |
5: 37,581,923 (GRCm39) |
S1189I |
possibly damaging |
Het |
| Faap100 |
A |
T |
11: 120,267,558 (GRCm39) |
L405Q |
probably damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,386,234 (GRCm39) |
M249L |
probably benign |
Het |
| Gbp10 |
A |
T |
5: 105,366,326 (GRCm39) |
L526Q |
probably damaging |
Het |
| Gm19402 |
A |
C |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Gm2244 |
A |
G |
14: 19,590,865 (GRCm39) |
Y141H |
probably damaging |
Het |
| Gm4181 |
A |
T |
14: 51,870,666 (GRCm39) |
N98K |
probably damaging |
Het |
| Golga4 |
C |
T |
9: 118,387,695 (GRCm39) |
R616* |
probably null |
Het |
| Gpank1 |
T |
A |
17: 35,343,266 (GRCm39) |
S226T |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,770 (GRCm39) |
M141V |
probably damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
| Igf1r |
T |
G |
7: 67,653,885 (GRCm39) |
I141S |
possibly damaging |
Het |
| Jak2 |
T |
A |
19: 29,273,059 (GRCm39) |
F628I |
probably benign |
Het |
| Kcp |
C |
A |
6: 29,502,364 (GRCm39) |
V227L |
probably benign |
Het |
| Knl1 |
T |
G |
2: 118,902,422 (GRCm39) |
C1374W |
probably damaging |
Het |
| Larp6 |
A |
T |
9: 60,645,043 (GRCm39) |
R394S |
probably benign |
Het |
| Lilra5 |
G |
A |
7: 4,245,114 (GRCm39) |
G253R |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,482,945 (GRCm39) |
S591P |
probably damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,215,134 (GRCm39) |
D163G |
probably damaging |
Het |
| Minar2 |
A |
G |
18: 59,205,296 (GRCm39) |
K28R |
probably benign |
Het |
| Mrpl16 |
T |
A |
19: 11,750,332 (GRCm39) |
I72K |
probably damaging |
Het |
| Nol11 |
C |
G |
11: 107,071,860 (GRCm39) |
R244S |
probably benign |
Het |
| Nr2f1 |
T |
C |
13: 78,343,782 (GRCm39) |
T161A |
probably benign |
Het |
| Nrdc |
G |
T |
4: 108,895,203 (GRCm39) |
V476F |
probably damaging |
Het |
| Or10j7 |
G |
T |
1: 173,011,477 (GRCm39) |
H175N |
probably damaging |
Het |
| Or10z1 |
A |
T |
1: 174,078,395 (GRCm39) |
S33T |
possibly damaging |
Het |
| Or13a22 |
T |
A |
7: 140,072,626 (GRCm39) |
L25Q |
possibly damaging |
Het |
| Or13m2-ps1 |
A |
T |
6: 42,777,843 (GRCm39) |
H56L |
probably benign |
Het |
| P2rx1 |
A |
G |
11: 72,898,974 (GRCm39) |
I62V |
probably benign |
Het |
| Pcdhgc5 |
A |
T |
18: 37,953,674 (GRCm39) |
Y316F |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,576,065 (GRCm39) |
D490G |
probably benign |
Het |
| Pfkfb2 |
A |
T |
1: 130,635,299 (GRCm39) |
Y87* |
probably null |
Het |
| Poldip2 |
A |
G |
11: 78,408,458 (GRCm39) |
|
probably null |
Het |
| Ppp2r5b |
T |
A |
19: 6,280,566 (GRCm39) |
Q304L |
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,542,609 (GRCm39) |
C4R |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,216,753 (GRCm39) |
F29L |
probably benign |
Het |
| Ptk6 |
A |
T |
2: 180,838,886 (GRCm39) |
L289Q |
probably null |
Het |
| Ptprt |
A |
T |
2: 161,743,417 (GRCm39) |
I508N |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,808 (GRCm39) |
F406S |
probably damaging |
Het |
| Rspo3 |
A |
G |
10: 29,375,926 (GRCm39) |
|
probably null |
Het |
| Septin8 |
G |
T |
11: 53,425,594 (GRCm39) |
|
probably null |
Het |
| Sirt2 |
A |
C |
7: 28,487,471 (GRCm39) |
T345P |
probably benign |
Het |
| Slc6a20b |
T |
C |
9: 123,438,161 (GRCm39) |
E205G |
possibly damaging |
Het |
| Sqstm1 |
G |
A |
11: 50,093,418 (GRCm39) |
Q327* |
probably null |
Het |
| Susd3 |
T |
A |
13: 49,390,997 (GRCm39) |
S98C |
probably damaging |
Het |
| Tada2b |
G |
A |
5: 36,634,186 (GRCm39) |
R56W |
probably damaging |
Het |
| Tbx6 |
A |
G |
7: 126,380,740 (GRCm39) |
Q21R |
possibly damaging |
Het |
| Usp24 |
T |
G |
4: 106,231,297 (GRCm39) |
|
probably null |
Het |
| Vinac1 |
T |
G |
2: 128,879,719 (GRCm39) |
T736P |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,406 (GRCm39) |
T727A |
probably benign |
Het |
| Wdr48 |
C |
T |
9: 119,749,676 (GRCm39) |
T531M |
probably damaging |
Het |
|
| Other mutations in Tbc1d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00714:Tbc1d2
|
APN |
4 |
46,649,745 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01748:Tbc1d2
|
APN |
4 |
46,616,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01863:Tbc1d2
|
APN |
4 |
46,607,064 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02014:Tbc1d2
|
APN |
4 |
46,649,778 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02025:Tbc1d2
|
APN |
4 |
46,620,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02551:Tbc1d2
|
APN |
4 |
46,649,916 (GRCm39) |
missense |
probably benign |
|
|
IGL02571:Tbc1d2
|
APN |
4 |
46,628,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03149:Tbc1d2
|
APN |
4 |
46,637,619 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0347:Tbc1d2
|
UTSW |
4 |
46,620,574 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0374:Tbc1d2
|
UTSW |
4 |
46,649,913 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0522:Tbc1d2
|
UTSW |
4 |
46,649,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Tbc1d2
|
UTSW |
4 |
46,609,003 (GRCm39) |
nonsense |
probably null |
|
|
R1227:Tbc1d2
|
UTSW |
4 |
46,620,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Tbc1d2
|
UTSW |
4 |
46,606,491 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1464:Tbc1d2
|
UTSW |
4 |
46,606,491 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1658:Tbc1d2
|
UTSW |
4 |
46,614,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Tbc1d2
|
UTSW |
4 |
46,606,419 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2108:Tbc1d2
|
UTSW |
4 |
46,637,652 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3864:Tbc1d2
|
UTSW |
4 |
46,620,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4475:Tbc1d2
|
UTSW |
4 |
46,609,080 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5112:Tbc1d2
|
UTSW |
4 |
46,606,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5127:Tbc1d2
|
UTSW |
4 |
46,633,639 (GRCm39) |
intron |
probably benign |
|
|
R5215:Tbc1d2
|
UTSW |
4 |
46,614,006 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5475:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5550:Tbc1d2
|
UTSW |
4 |
46,646,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5558:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5564:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5599:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5600:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5699:Tbc1d2
|
UTSW |
4 |
46,616,298 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5866:Tbc1d2
|
UTSW |
4 |
46,637,715 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5909:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5911:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5980:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6194:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6195:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6209:Tbc1d2
|
UTSW |
4 |
46,614,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6211:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6232:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6242:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6261:Tbc1d2
|
UTSW |
4 |
46,637,692 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6273:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6274:Tbc1d2
|
UTSW |
4 |
46,629,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6333:Tbc1d2
|
UTSW |
4 |
46,620,736 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6369:Tbc1d2
|
UTSW |
4 |
46,614,420 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6912:Tbc1d2
|
UTSW |
4 |
46,649,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Tbc1d2
|
UTSW |
4 |
46,649,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7775:Tbc1d2
|
UTSW |
4 |
46,637,746 (GRCm39) |
splice site |
probably null |
|
|
R7824:Tbc1d2
|
UTSW |
4 |
46,637,746 (GRCm39) |
splice site |
probably null |
|
|
R8069:Tbc1d2
|
UTSW |
4 |
46,649,737 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8135:Tbc1d2
|
UTSW |
4 |
46,609,071 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8203:Tbc1d2
|
UTSW |
4 |
46,606,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8271:Tbc1d2
|
UTSW |
4 |
46,649,791 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8690:Tbc1d2
|
UTSW |
4 |
46,615,106 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9025:Tbc1d2
|
UTSW |
4 |
46,607,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9236:Tbc1d2
|
UTSW |
4 |
46,609,029 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9622:Tbc1d2
|
UTSW |
4 |
46,609,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Tbc1d2
|
UTSW |
4 |
46,650,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Tbc1d2
|
UTSW |
4 |
46,615,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Tbc1d2
|
UTSW |
4 |
46,606,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d2
|
UTSW |
4 |
46,650,016 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAGGCAGCTTGAGTAATTG -3'
(R):5'- AAAGCTGCTCATGGCTCTGG -3'
Sequencing Primer
(F):5'- TGGTCTGTGTGCCTCCAACAG -3'
(R):5'- GTAGCCTAAGCAGCCCAGATG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation