Incidental Mutation 'R5699:Tbc1d2'
| ID |
446555 |
| 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 |
043327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R5699 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
46604390-46650209 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46616298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 477
(I477V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084621]
|
| AlphaFold |
B1AVH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084621
AA Change: I477V
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: I477V
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
A |
G |
9: 8,225,320 (GRCm39) |
|
noncoding transcript |
Het |
| 4930486L24Rik |
A |
G |
13: 61,001,410 (GRCm39) |
F106L |
possibly damaging |
Het |
| Adam11 |
A |
T |
11: 102,664,466 (GRCm39) |
M385L |
probably benign |
Het |
| Adgre1 |
C |
T |
17: 57,788,007 (GRCm39) |
P925S |
probably benign |
Het |
| Adh7 |
G |
A |
3: 137,932,087 (GRCm39) |
A234T |
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,849,703 (GRCm39) |
E475G |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,385 (GRCm39) |
V254A |
probably benign |
Het |
| Car13 |
A |
G |
3: 14,715,749 (GRCm39) |
Y89C |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 44,057,728 (GRCm39) |
K100R |
probably damaging |
Het |
| Cdh11 |
A |
G |
8: 103,361,175 (GRCm39) |
I721T |
probably damaging |
Het |
| Cdh2 |
G |
A |
18: 16,779,579 (GRCm39) |
Q161* |
probably null |
Het |
| Clk1 |
T |
C |
1: 58,459,354 (GRCm39) |
K135R |
probably damaging |
Het |
| Col5a1 |
G |
A |
2: 27,887,611 (GRCm39) |
G961R |
unknown |
Het |
| Cpt1b |
T |
A |
15: 89,308,476 (GRCm39) |
I151F |
probably benign |
Het |
| Cyp51 |
A |
G |
5: 4,151,213 (GRCm39) |
F139L |
probably damaging |
Het |
| Disp1 |
TTGA |
T |
1: 182,870,119 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
C |
17: 31,029,298 (GRCm39) |
I4089T |
probably benign |
Het |
| Dnali1 |
C |
T |
4: 124,952,843 (GRCm39) |
V227M |
possibly damaging |
Het |
| Eml4 |
T |
G |
17: 83,717,514 (GRCm39) |
S29A |
probably benign |
Het |
| Eps8l3 |
C |
A |
3: 107,786,895 (GRCm39) |
P24T |
probably benign |
Het |
| Fancc |
A |
T |
13: 63,478,446 (GRCm39) |
|
probably null |
Het |
| Firrm |
A |
T |
1: 163,785,120 (GRCm39) |
V753D |
probably benign |
Het |
| Grid2 |
G |
A |
6: 63,885,975 (GRCm39) |
A124T |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,204,204 (GRCm39) |
|
probably null |
Het |
| Kyat1 |
G |
A |
2: 30,076,662 (GRCm39) |
A284V |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lmbrd2 |
G |
T |
15: 9,175,269 (GRCm39) |
L393F |
probably benign |
Het |
| Lrrc26 |
T |
A |
2: 25,180,536 (GRCm39) |
L179Q |
probably damaging |
Het |
| Mlx |
A |
G |
11: 100,979,520 (GRCm39) |
D113G |
possibly damaging |
Het |
| Myod1 |
A |
G |
7: 46,026,407 (GRCm39) |
K104R |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,429,602 (GRCm39) |
|
probably null |
Het |
| Or56b2j |
T |
G |
7: 104,353,200 (GRCm39) |
V142G |
probably damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,336 (GRCm39) |
M1V |
probably null |
Het |
| Or6c3 |
A |
C |
10: 129,308,746 (GRCm39) |
N62H |
probably damaging |
Het |
| Pacsin3 |
A |
T |
2: 91,093,126 (GRCm39) |
Y206F |
probably damaging |
Het |
| Pcdhgb5 |
T |
A |
18: 37,864,970 (GRCm39) |
V255E |
probably damaging |
Het |
| Pdp1 |
T |
C |
4: 11,960,907 (GRCm39) |
D468G |
possibly damaging |
Het |
| Pgr |
C |
T |
9: 8,900,600 (GRCm39) |
|
probably benign |
Het |
| Prrt2 |
T |
A |
7: 126,617,899 (GRCm39) |
Y345F |
probably benign |
Het |
| Rbbp8nl |
T |
C |
2: 179,920,461 (GRCm39) |
T515A |
probably damaging |
Het |
| Rc3h1 |
G |
T |
1: 160,757,823 (GRCm39) |
R47L |
probably damaging |
Het |
| Rfpl4b |
T |
A |
10: 38,697,281 (GRCm39) |
I107F |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,869,801 (GRCm39) |
F754S |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,337,608 (GRCm39) |
T630A |
possibly damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slco1a5 |
C |
A |
6: 142,194,542 (GRCm39) |
C367F |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,613,959 (GRCm39) |
|
probably null |
Het |
| Slit2 |
G |
A |
5: 48,378,333 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
G |
T |
4: 130,258,958 (GRCm39) |
G122V |
possibly damaging |
Het |
| Stk16 |
T |
A |
1: 75,190,248 (GRCm39) |
M111K |
probably damaging |
Het |
| Tll1 |
T |
A |
8: 64,570,974 (GRCm39) |
E199D |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,424,407 (GRCm39) |
D459E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,541,881 (GRCm39) |
R25375G |
possibly damaging |
Het |
| Tubgcp2 |
A |
T |
7: 139,578,701 (GRCm39) |
M757K |
possibly damaging |
Het |
| Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
| Ubqln5 |
A |
G |
7: 103,778,632 (GRCm39) |
V64A |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,709,204 (GRCm39) |
M1337V |
probably benign |
Het |
| Vmn1r201 |
T |
A |
13: 22,659,409 (GRCm39) |
Y208N |
probably damaging |
Het |
| Xkr8 |
C |
T |
4: 132,455,368 (GRCm39) |
R335H |
probably damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,373,870 (GRCm39) |
C25S |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 44,887,800 (GRCm39) |
N404I |
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 |
|
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 |
|
R6285:Tbc1d2
|
UTSW |
4 |
46,615,045 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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'- CCAATGCTTCAGGGATTCTGG -3'
(R):5'- GCTGGAGAAGTCTTTCACACC -3'
Sequencing Primer
(F):5'- GAGACTCCAGACCGACTTGTATG -3'
(R):5'- GGAGAAGTCTTTCACACCCCCTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation