Incidental Mutation 'R1658:Tbc1d2'
ID |
186514 |
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 |
039694-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R1658 (G1)
|
Quality Score |
165 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
46604390-46650209 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 46614207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 625
(R625C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084621]
|
AlphaFold |
B1AVH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084621
AA Change: R625C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081670 Gene: ENSMUSG00000039813 AA Change: R625C
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrd1 |
T |
G |
5: 129,255,164 (GRCm39) |
S604A |
probably benign |
Het |
Apbb1 |
G |
A |
7: 105,223,291 (GRCm39) |
P107S |
probably damaging |
Het |
Baz2a |
T |
A |
10: 127,960,252 (GRCm39) |
M1489K |
probably benign |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdca2 |
A |
G |
14: 67,915,148 (GRCm39) |
S704P |
possibly damaging |
Het |
Cemip2 |
T |
C |
19: 21,779,243 (GRCm39) |
V351A |
probably damaging |
Het |
Chfr |
T |
C |
5: 110,301,035 (GRCm39) |
I312T |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,131,739 (GRCm39) |
V1662A |
possibly damaging |
Het |
Dgkd |
T |
A |
1: 87,853,990 (GRCm39) |
L611Q |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,666,673 (GRCm39) |
V1376A |
probably benign |
Het |
Elp2 |
C |
T |
18: 24,750,470 (GRCm39) |
T269M |
probably benign |
Het |
Ephb6 |
T |
A |
6: 41,591,179 (GRCm39) |
V112E |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
Frem1 |
C |
T |
4: 82,920,045 (GRCm39) |
R437Q |
probably damaging |
Het |
G6pc2 |
A |
T |
2: 69,057,413 (GRCm39) |
K353M |
probably damaging |
Het |
Gabbr1 |
A |
G |
17: 37,358,399 (GRCm39) |
T46A |
probably damaging |
Het |
Gbp9 |
T |
A |
5: 105,242,334 (GRCm39) |
Q135L |
probably damaging |
Het |
Gstp1 |
A |
T |
19: 4,087,375 (GRCm39) |
M20K |
probably damaging |
Het |
Heatr6 |
A |
G |
11: 83,649,193 (GRCm39) |
R183G |
probably damaging |
Het |
Ints11 |
A |
G |
4: 155,972,185 (GRCm39) |
K397E |
probably damaging |
Het |
Intu |
A |
G |
3: 40,647,211 (GRCm39) |
T695A |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,099,023 (GRCm39) |
V1437A |
probably damaging |
Het |
Klhl24 |
T |
A |
16: 19,925,842 (GRCm39) |
Y123* |
probably null |
Het |
Lipm |
C |
T |
19: 34,093,847 (GRCm39) |
L255F |
probably benign |
Het |
Max |
A |
T |
12: 76,985,355 (GRCm39) |
M121K |
probably benign |
Het |
Mga |
A |
T |
2: 119,772,170 (GRCm39) |
I1677L |
possibly damaging |
Het |
Msantd1 |
T |
A |
5: 35,078,906 (GRCm39) |
L147Q |
probably benign |
Het |
Msantd1 |
C |
A |
5: 35,078,905 (GRCm39) |
L147M |
probably damaging |
Het |
Mylk4 |
T |
C |
13: 32,896,772 (GRCm39) |
D363G |
possibly damaging |
Het |
Naaa |
T |
C |
5: 92,420,300 (GRCm39) |
|
probably null |
Het |
Ninl |
A |
G |
2: 150,806,079 (GRCm39) |
Y381H |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,964,589 (GRCm39) |
N1391S |
probably damaging |
Het |
Or6k8-ps1 |
G |
A |
1: 173,979,789 (GRCm39) |
A236T |
probably damaging |
Het |
Or8g18 |
C |
T |
9: 39,149,255 (GRCm39) |
C155Y |
probably benign |
Het |
Phip |
A |
G |
9: 82,753,551 (GRCm39) |
V1731A |
probably benign |
Het |
Plxnb1 |
T |
A |
9: 108,931,939 (GRCm39) |
C488* |
probably null |
Het |
Rgs7 |
T |
C |
1: 174,907,120 (GRCm39) |
I374V |
probably benign |
Het |
Rin2 |
A |
T |
2: 145,718,376 (GRCm39) |
M574L |
probably benign |
Het |
Rps18 |
A |
T |
17: 34,171,392 (GRCm39) |
D92E |
probably benign |
Het |
Scrn1 |
T |
A |
6: 54,497,791 (GRCm39) |
I267L |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,532,023 (GRCm39) |
V67A |
probably benign |
Het |
Syne1 |
T |
G |
10: 5,317,616 (GRCm39) |
M493L |
probably benign |
Het |
Tcerg1l |
A |
G |
7: 137,995,909 (GRCm39) |
S200P |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,346,039 (GRCm39) |
V1331E |
probably benign |
Het |
Ticrr |
A |
T |
7: 79,345,297 (GRCm39) |
I1721F |
possibly damaging |
Het |
Tjp2 |
T |
C |
19: 24,090,311 (GRCm39) |
D577G |
probably damaging |
Het |
Tmem38b |
A |
G |
4: 53,840,713 (GRCm39) |
M43V |
probably benign |
Het |
Trabd |
T |
A |
15: 88,970,069 (GRCm39) |
|
probably null |
Het |
Trpv5 |
C |
A |
6: 41,651,216 (GRCm39) |
D277Y |
probably damaging |
Het |
Tubb1 |
A |
C |
2: 174,298,416 (GRCm39) |
D67A |
probably damaging |
Het |
Ubxn7 |
A |
G |
16: 32,200,054 (GRCm39) |
|
probably null |
Het |
Ugp2 |
G |
A |
11: 21,283,774 (GRCm39) |
P98S |
probably benign |
Het |
Vmn2r66 |
G |
T |
7: 84,656,955 (GRCm39) |
P150Q |
probably benign |
Het |
Zbtb11 |
A |
T |
16: 55,794,588 (GRCm39) |
H55L |
possibly 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 |
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 |
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'- GTTCCTAAGACCCGCCAGACATTC -3'
(R):5'- TGCCAGACTACGAGATGGAAGACC -3'
Sequencing Primer
(F):5'- AAGAGAGGGCTGTGTTCTCAC -3'
(R):5'- CTACGAGATGGAAGACCTAAAACTG -3'
|
Posted On |
2014-05-09 |