Incidental Mutation 'R7775:Tbc1d2'
ID |
628570 |
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 |
045831-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R7775 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
46604390-46650209 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 46637746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103379
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084621]
[ENSMUST00000084621]
[ENSMUST00000107750]
[ENSMUST00000107750]
|
AlphaFold |
B1AVH7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084621
|
SMART Domains |
Protein: ENSMUSP00000081670 Gene: ENSMUSG00000039813
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000084621
|
SMART Domains |
Protein: ENSMUSP00000081670 Gene: ENSMUSG00000039813
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107750
|
SMART Domains |
Protein: ENSMUSP00000103379 Gene: ENSMUSG00000039813
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 |
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107750
|
SMART Domains |
Protein: ENSMUSP00000103379 Gene: ENSMUSG00000039813
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 |
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap35 |
T |
C |
7: 16,296,573 (GRCm39) |
K831E |
probably benign |
Het |
Arpc1a |
C |
T |
5: 145,041,622 (GRCm39) |
R302C |
probably benign |
Het |
Asb5 |
A |
C |
8: 55,037,827 (GRCm39) |
H173P |
|
Het |
Atp6v0a2 |
A |
G |
5: 124,779,443 (GRCm39) |
E186G |
probably damaging |
Het |
Bbs2 |
A |
T |
8: 94,816,388 (GRCm39) |
|
probably null |
Het |
Capn7 |
A |
G |
14: 31,074,367 (GRCm39) |
T257A |
probably benign |
Het |
Car4 |
T |
C |
11: 84,856,449 (GRCm39) |
S246P |
probably damaging |
Het |
Chrm5 |
A |
G |
2: 112,310,301 (GRCm39) |
S272P |
probably benign |
Het |
Chrna6 |
T |
C |
8: 27,897,392 (GRCm39) |
I162V |
probably damaging |
Het |
Chst12 |
T |
A |
5: 140,509,376 (GRCm39) |
M1K |
probably null |
Het |
Cldn6 |
T |
A |
17: 23,900,581 (GRCm39) |
C182S |
probably damaging |
Het |
Coro6 |
T |
G |
11: 77,356,599 (GRCm39) |
D102E |
probably benign |
Het |
Cysltr2 |
A |
G |
14: 73,267,203 (GRCm39) |
I169T |
probably benign |
Het |
Dtx4 |
G |
T |
19: 12,469,374 (GRCm39) |
P251Q |
probably benign |
Het |
Dyrk3 |
C |
T |
1: 131,057,364 (GRCm39) |
V270I |
possibly damaging |
Het |
Efhc1 |
A |
T |
1: 21,049,685 (GRCm39) |
Y515F |
probably damaging |
Het |
Ep300 |
T |
C |
15: 81,470,887 (GRCm39) |
S20P |
unknown |
Het |
Fmnl2 |
C |
T |
2: 52,963,692 (GRCm39) |
L275F |
unknown |
Het |
Fstl4 |
C |
T |
11: 53,067,798 (GRCm39) |
Q554* |
probably null |
Het |
Gal3st2b |
G |
T |
1: 93,868,506 (GRCm39) |
D246Y |
probably damaging |
Het |
Gkap1 |
A |
T |
13: 58,398,966 (GRCm39) |
D188E |
probably benign |
Het |
Gm14226 |
T |
A |
2: 154,866,630 (GRCm39) |
C196S |
possibly damaging |
Het |
Gm8297 |
A |
G |
14: 16,167,939 (GRCm39) |
N193S |
possibly damaging |
Het |
Grm8 |
T |
C |
6: 27,363,671 (GRCm39) |
R615G |
possibly damaging |
Het |
Ing1 |
A |
G |
8: 11,611,814 (GRCm39) |
E178G |
probably benign |
Het |
Kansl3 |
A |
T |
1: 36,387,758 (GRCm39) |
L530H |
probably damaging |
Het |
Kcna5 |
A |
T |
6: 126,511,768 (GRCm39) |
L120* |
probably null |
Het |
Kif26b |
T |
A |
1: 178,692,441 (GRCm39) |
S461T |
probably benign |
Het |
L3mbtl3 |
A |
T |
10: 26,228,215 (GRCm39) |
V15E |
unknown |
Het |
Lama4 |
A |
T |
10: 38,954,843 (GRCm39) |
H1132L |
probably damaging |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Ldlrad4 |
T |
C |
18: 68,368,827 (GRCm39) |
S95P |
probably damaging |
Het |
Liph |
G |
T |
16: 21,777,664 (GRCm39) |
L379I |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,331,883 (GRCm39) |
E1624V |
possibly damaging |
Het |
Matn2 |
A |
T |
15: 34,399,223 (GRCm39) |
H370L |
possibly damaging |
Het |
Mettl23 |
T |
G |
11: 116,740,096 (GRCm39) |
V189G |
probably benign |
Het |
Mpp4 |
G |
A |
1: 59,162,672 (GRCm39) |
T543M |
not run |
Het |
Mrps15 |
A |
T |
4: 125,945,170 (GRCm39) |
N119I |
probably damaging |
Het |
Or10d4 |
C |
A |
9: 39,580,534 (GRCm39) |
F60L |
possibly damaging |
Het |
Or5ac21 |
A |
T |
16: 59,123,614 (GRCm39) |
I33F |
probably damaging |
Het |
Or7d9 |
A |
G |
9: 20,193,708 (GRCm39) |
|
probably benign |
Het |
Or8b36 |
T |
A |
9: 37,937,963 (GRCm39) |
I287N |
probably damaging |
Het |
Or8g21 |
T |
A |
9: 38,906,203 (GRCm39) |
H176L |
probably damaging |
Het |
Pax8 |
A |
G |
2: 24,325,913 (GRCm39) |
S324P |
possibly damaging |
Het |
Pcdha11 |
A |
T |
18: 37,145,733 (GRCm39) |
Y608F |
possibly damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,828,578 (GRCm39) |
D342G |
probably damaging |
Het |
Pde6d |
A |
G |
1: 86,471,250 (GRCm39) |
S143P |
probably damaging |
Het |
Plau |
A |
G |
14: 20,892,393 (GRCm39) |
S393G |
probably benign |
Het |
Plec |
A |
T |
15: 76,061,135 (GRCm39) |
I2934N |
probably damaging |
Het |
Primpol |
G |
T |
8: 47,039,459 (GRCm39) |
P387Q |
probably damaging |
Het |
Prph2 |
T |
C |
17: 47,221,732 (GRCm39) |
L37S |
possibly damaging |
Het |
Prrt4 |
A |
G |
6: 29,177,718 (GRCm39) |
L17P |
probably damaging |
Het |
Pycr3 |
T |
C |
15: 75,790,138 (GRCm39) |
D171G |
probably damaging |
Het |
Rapgefl1 |
A |
G |
11: 98,741,980 (GRCm39) |
N648S |
probably damaging |
Het |
Rapsn |
A |
G |
2: 90,875,293 (GRCm39) |
T359A |
probably benign |
Het |
Sap25 |
C |
T |
5: 137,640,186 (GRCm39) |
R66W |
probably benign |
Het |
Setd6 |
A |
T |
8: 96,442,866 (GRCm39) |
H101L |
probably benign |
Het |
Slc22a3 |
G |
T |
17: 12,683,350 (GRCm39) |
A171E |
probably damaging |
Het |
Tfap2b |
G |
A |
1: 19,304,531 (GRCm39) |
G447D |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,945,238 (GRCm39) |
V313A |
probably benign |
Het |
Uevld |
A |
T |
7: 46,576,100 (GRCm39) |
I462N |
probably damaging |
Het |
Vmn2r120 |
T |
C |
17: 57,832,942 (GRCm39) |
Y79C |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,275,587 (GRCm39) |
V790A |
probably benign |
Het |
Zfp936 |
A |
G |
7: 42,839,720 (GRCm39) |
T396A |
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 |
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 |
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 |
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'- CACCAGATGGAGCTCACAGAAG -3'
(R):5'- GCAGCAAAACCGATCACTTTGC -3'
Sequencing Primer
(F):5'- TCACAGAACGGATGCGC -3'
(R):5'- GATCACTTTGCAGCCACTTTG -3'
|
Posted On |
2020-05-11 |