Incidental Mutation 'R0062:Tbc1d2b'
ID |
18083 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d2b
|
Ensembl Gene |
ENSMUSG00000037410 |
Gene Name |
TBC1 domain family, member 2B |
Synonyms |
1810061M12Rik |
MMRRC Submission |
038354-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0062 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
90084100-90152861 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 90104355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041767]
|
AlphaFold |
Q3U0J8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041767
|
SMART Domains |
Protein: ENSMUSP00000045413 Gene: ENSMUSG00000037410
Domain | Start | End | E-Value | Type |
PH
|
35 |
141 |
2.66e-9 |
SMART |
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
low complexity region
|
343 |
356 |
N/A |
INTRINSIC |
Blast:TBC
|
358 |
601 |
2e-25 |
BLAST |
TBC
|
661 |
881 |
3.75e-60 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120385
|
Coding Region Coverage |
- 1x: 90.3%
- 3x: 88.1%
- 10x: 83.4%
- 20x: 77.5%
|
Validation Efficiency |
91% (72/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513I03Rik |
G |
T |
10: 120,614,511 (GRCm39) |
|
probably benign |
Het |
Abi2 |
T |
A |
1: 60,492,884 (GRCm39) |
N182K |
probably benign |
Het |
Adam25 |
A |
T |
8: 41,207,829 (GRCm39) |
H365L |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,603,030 (GRCm39) |
Y20N |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,093,150 (GRCm39) |
I977N |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,648,343 (GRCm39) |
Y161H |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,579,198 (GRCm39) |
D1480G |
probably damaging |
Het |
Chl1 |
A |
T |
6: 103,726,613 (GRCm39) |
Y1143F |
unknown |
Het |
Clk3 |
A |
G |
9: 57,659,449 (GRCm39) |
M533T |
probably damaging |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Cnbd1 |
A |
G |
4: 18,860,504 (GRCm39) |
I414T |
possibly damaging |
Het |
Commd3 |
A |
T |
2: 18,679,514 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
A |
17: 30,984,685 (GRCm39) |
F3128I |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,379,224 (GRCm39) |
|
probably null |
Het |
Dpysl3 |
C |
T |
18: 43,466,941 (GRCm39) |
|
probably null |
Het |
Ebf2 |
T |
A |
14: 67,475,989 (GRCm39) |
|
probably benign |
Het |
F830045P16Rik |
T |
C |
2: 129,305,624 (GRCm39) |
E250G |
possibly damaging |
Het |
Fmn2 |
A |
T |
1: 174,436,015 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,179,621 (GRCm39) |
I2929V |
probably benign |
Het |
Gm11232 |
T |
A |
4: 71,675,112 (GRCm39) |
Q130L |
possibly damaging |
Het |
Gna15 |
A |
G |
10: 81,348,239 (GRCm39) |
|
probably null |
Het |
Gtf3c5 |
T |
C |
2: 28,462,198 (GRCm39) |
|
probably benign |
Het |
Irs2 |
G |
A |
8: 11,055,723 (GRCm39) |
T903I |
possibly damaging |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Izumo1 |
A |
G |
7: 45,276,621 (GRCm39) |
T395A |
probably benign |
Het |
Kcnd2 |
G |
A |
6: 21,727,225 (GRCm39) |
V593M |
possibly damaging |
Het |
Kprp |
T |
C |
3: 92,731,989 (GRCm39) |
S354G |
probably damaging |
Het |
Krt72 |
T |
C |
15: 101,694,443 (GRCm39) |
K151E |
probably damaging |
Het |
Letm2 |
A |
T |
8: 26,077,464 (GRCm39) |
|
probably benign |
Het |
Lipe |
A |
G |
7: 25,097,874 (GRCm39) |
V23A |
possibly damaging |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Mthfd1 |
G |
A |
12: 76,344,363 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
C |
A |
1: 60,286,876 (GRCm39) |
N899K |
probably benign |
Het |
Odad2 |
T |
A |
18: 7,129,593 (GRCm39) |
|
probably benign |
Het |
Or10ak14 |
T |
C |
4: 118,611,100 (GRCm39) |
I212V |
probably benign |
Het |
Or4c118 |
T |
C |
2: 88,974,966 (GRCm39) |
I134V |
possibly damaging |
Het |
Pcdha1 |
T |
A |
18: 37,139,681 (GRCm39) |
W437R |
probably benign |
Het |
Pcdhga11 |
T |
G |
18: 37,941,528 (GRCm39) |
I643S |
probably benign |
Het |
Pik3r6 |
T |
A |
11: 68,419,635 (GRCm39) |
Y149N |
probably damaging |
Het |
Pja2 |
C |
A |
17: 64,615,966 (GRCm39) |
V310L |
probably damaging |
Het |
Ripor3 |
A |
G |
2: 167,826,358 (GRCm39) |
|
probably benign |
Het |
Rpa2 |
C |
A |
4: 132,505,125 (GRCm39) |
N251K |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,029,090 (GRCm39) |
|
probably null |
Het |
Ryr2 |
C |
T |
13: 11,884,002 (GRCm39) |
|
probably null |
Het |
Scara3 |
T |
C |
14: 66,168,417 (GRCm39) |
N400S |
probably damaging |
Het |
Slc8b1 |
T |
A |
5: 120,659,928 (GRCm39) |
|
probably null |
Het |
Slco1a4 |
G |
A |
6: 141,765,205 (GRCm39) |
Q346* |
probably null |
Het |
Stk32b |
A |
G |
5: 37,618,792 (GRCm39) |
S229P |
probably damaging |
Het |
Syde2 |
A |
G |
3: 145,704,508 (GRCm39) |
R487G |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,317,654 (GRCm39) |
V396A |
probably benign |
Het |
Trrap |
T |
C |
5: 144,719,003 (GRCm39) |
|
probably benign |
Het |
Vps13a |
A |
T |
19: 16,646,054 (GRCm39) |
H1994Q |
probably damaging |
Het |
Wdr36 |
T |
G |
18: 32,997,802 (GRCm39) |
V820G |
possibly damaging |
Het |
Wdr83 |
G |
A |
8: 85,806,456 (GRCm39) |
T114I |
possibly damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,252,658 (GRCm39) |
K1324E |
probably benign |
Het |
|
Other mutations in Tbc1d2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00589:Tbc1d2b
|
APN |
9 |
90,108,262 (GRCm39) |
missense |
probably benign |
|
IGL00791:Tbc1d2b
|
APN |
9 |
90,109,481 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01457:Tbc1d2b
|
APN |
9 |
90,087,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01535:Tbc1d2b
|
APN |
9 |
90,097,526 (GRCm39) |
splice site |
probably benign |
|
IGL02089:Tbc1d2b
|
APN |
9 |
90,104,412 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02409:Tbc1d2b
|
APN |
9 |
90,104,405 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02799:Tbc1d2b
|
APN |
9 |
90,105,487 (GRCm39) |
splice site |
probably benign |
|
IGL03198:Tbc1d2b
|
APN |
9 |
90,104,510 (GRCm39) |
missense |
probably damaging |
1.00 |
Leone
|
UTSW |
9 |
90,089,940 (GRCm39) |
missense |
probably damaging |
1.00 |
ocelot
|
UTSW |
9 |
90,089,937 (GRCm39) |
missense |
probably damaging |
1.00 |
panthera
|
UTSW |
9 |
90,108,301 (GRCm39) |
missense |
probably benign |
|
pardo
|
UTSW |
9 |
90,101,197 (GRCm39) |
missense |
probably benign |
0.13 |
pardus
|
UTSW |
9 |
90,101,063 (GRCm39) |
nonsense |
probably null |
|
roar
|
UTSW |
9 |
90,100,975 (GRCm39) |
nonsense |
probably null |
|
R0062:Tbc1d2b
|
UTSW |
9 |
90,104,355 (GRCm39) |
splice site |
probably benign |
|
R0671:Tbc1d2b
|
UTSW |
9 |
90,104,558 (GRCm39) |
splice site |
probably benign |
|
R0682:Tbc1d2b
|
UTSW |
9 |
90,131,915 (GRCm39) |
missense |
probably benign |
0.01 |
R1074:Tbc1d2b
|
UTSW |
9 |
90,104,393 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1075:Tbc1d2b
|
UTSW |
9 |
90,104,393 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1140:Tbc1d2b
|
UTSW |
9 |
90,108,429 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1892:Tbc1d2b
|
UTSW |
9 |
90,100,996 (GRCm39) |
missense |
probably damaging |
0.98 |
R4064:Tbc1d2b
|
UTSW |
9 |
90,100,975 (GRCm39) |
nonsense |
probably null |
|
R4541:Tbc1d2b
|
UTSW |
9 |
90,087,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R4590:Tbc1d2b
|
UTSW |
9 |
90,152,553 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4651:Tbc1d2b
|
UTSW |
9 |
90,089,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R4652:Tbc1d2b
|
UTSW |
9 |
90,089,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R4971:Tbc1d2b
|
UTSW |
9 |
90,100,923 (GRCm39) |
missense |
probably benign |
0.00 |
R5086:Tbc1d2b
|
UTSW |
9 |
90,109,510 (GRCm39) |
missense |
probably benign |
|
R5131:Tbc1d2b
|
UTSW |
9 |
90,091,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R5205:Tbc1d2b
|
UTSW |
9 |
90,089,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R5502:Tbc1d2b
|
UTSW |
9 |
90,109,496 (GRCm39) |
missense |
probably benign |
|
R5509:Tbc1d2b
|
UTSW |
9 |
90,101,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R5534:Tbc1d2b
|
UTSW |
9 |
90,109,559 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5729:Tbc1d2b
|
UTSW |
9 |
90,089,925 (GRCm39) |
missense |
probably benign |
0.22 |
R5735:Tbc1d2b
|
UTSW |
9 |
90,104,462 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5847:Tbc1d2b
|
UTSW |
9 |
90,091,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R5928:Tbc1d2b
|
UTSW |
9 |
90,101,197 (GRCm39) |
missense |
probably benign |
0.13 |
R6595:Tbc1d2b
|
UTSW |
9 |
90,108,145 (GRCm39) |
missense |
probably benign |
0.02 |
R6766:Tbc1d2b
|
UTSW |
9 |
90,108,262 (GRCm39) |
missense |
probably benign |
|
R7563:Tbc1d2b
|
UTSW |
9 |
90,108,301 (GRCm39) |
missense |
probably benign |
|
R7563:Tbc1d2b
|
UTSW |
9 |
90,101,063 (GRCm39) |
nonsense |
probably null |
|
R8126:Tbc1d2b
|
UTSW |
9 |
90,104,369 (GRCm39) |
missense |
probably benign |
0.00 |
R8162:Tbc1d2b
|
UTSW |
9 |
90,089,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R8928:Tbc1d2b
|
UTSW |
9 |
90,108,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R9182:Tbc1d2b
|
UTSW |
9 |
90,152,652 (GRCm39) |
missense |
probably damaging |
0.99 |
R9210:Tbc1d2b
|
UTSW |
9 |
90,087,183 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9212:Tbc1d2b
|
UTSW |
9 |
90,087,183 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9381:Tbc1d2b
|
UTSW |
9 |
90,101,139 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9494:Tbc1d2b
|
UTSW |
9 |
90,152,563 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Tbc1d2b
|
UTSW |
9 |
90,100,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-03-25 |