Incidental Mutation 'R3887:Tbc1d10b'
| ID |
309700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d10b
|
| Ensembl Gene |
ENSMUSG00000042492 |
| Gene Name |
TBC1 domain family, member 10b |
| Synonyms |
1110003P22Rik |
| MMRRC Submission |
040799-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.518)
|
| Stock # |
R3887 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126796631-126807640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126798967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 513
(I513N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035771]
[ENSMUST00000120705]
[ENSMUST00000206587]
[ENSMUST00000205321]
[ENSMUST00000205316]
[ENSMUST00000206081]
[ENSMUST00000206026]
[ENSMUST00000205355]
[ENSMUST00000166791]
|
| AlphaFold |
Q8BHL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035771
|
| SMART Domains |
Protein: ENSMUSP00000044790
Gene: ENSMUSG00000042502
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
193 |
N/A |
INTRINSIC |
|
GYF
|
282 |
339 |
7.35e-25 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120705
AA Change: I513N
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492
AA Change: I513N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
227 |
N/A |
INTRINSIC |
|
Blast:TBC
|
274 |
305 |
6e-10 |
BLAST |
|
TBC
|
343 |
557 |
8.23e-57 |
SMART |
|
low complexity region
|
632 |
678 |
N/A |
INTRINSIC |
|
coiled coil region
|
701 |
769 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137987
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153857
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205525
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166791
|
| SMART Domains |
Protein: ENSMUSP00000132963
Gene: ENSMUSG00000042502
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
193 |
N/A |
INTRINSIC |
|
GYF
|
282 |
339 |
7.35e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.9346 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| Ankdd1a |
C |
A |
9: 65,409,530 (GRCm39) |
G469W |
probably damaging |
Het |
| Ano6 |
A |
C |
15: 95,792,330 (GRCm39) |
T65P |
possibly damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,363,019 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
A |
G |
12: 72,182,822 (GRCm39) |
I399T |
possibly damaging |
Het |
| Ceacam14 |
T |
A |
7: 17,548,063 (GRCm39) |
V51D |
probably damaging |
Het |
| Cerk |
A |
T |
15: 86,033,532 (GRCm39) |
I297N |
possibly damaging |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,595,857 (GRCm39) |
M1K |
probably null |
Het |
| Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
| Fmc1 |
T |
C |
6: 38,516,223 (GRCm39) |
S90P |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Hk2 |
C |
T |
6: 82,711,942 (GRCm39) |
D548N |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Mapk12 |
A |
T |
15: 89,019,840 (GRCm39) |
H122Q |
possibly damaging |
Het |
| Mdfic |
C |
T |
6: 15,799,710 (GRCm39) |
T279I |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,412,233 (GRCm39) |
V2580A |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,078,676 (GRCm39) |
I476T |
probably damaging |
Het |
| Ncapg |
G |
A |
5: 45,831,705 (GRCm39) |
V184I |
probably benign |
Het |
| Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,887,767 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
| Reln |
T |
C |
5: 22,115,847 (GRCm39) |
I3054V |
possibly damaging |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Scube2 |
A |
T |
7: 109,442,383 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slc17a8 |
G |
T |
10: 89,427,000 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Stag3 |
A |
G |
5: 138,297,101 (GRCm39) |
I550M |
probably damaging |
Het |
| Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,556,923 (GRCm39) |
|
probably benign |
Het |
| Stxbp3 |
C |
T |
3: 108,712,549 (GRCm39) |
|
probably null |
Het |
| Syngr1 |
A |
G |
15: 80,000,240 (GRCm39) |
D117G |
probably damaging |
Het |
|
| Other mutations in Tbc1d10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01370:Tbc1d10b
|
APN |
7 |
126,798,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0318:Tbc1d10b
|
UTSW |
7 |
126,798,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Tbc1d10b
|
UTSW |
7 |
126,802,950 (GRCm39) |
missense |
probably benign |
|
|
R1793:Tbc1d10b
|
UTSW |
7 |
126,802,930 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1971:Tbc1d10b
|
UTSW |
7 |
126,807,036 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2520:Tbc1d10b
|
UTSW |
7 |
126,799,455 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5517:Tbc1d10b
|
UTSW |
7 |
126,797,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5780:Tbc1d10b
|
UTSW |
7 |
126,797,925 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5912:Tbc1d10b
|
UTSW |
7 |
126,799,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6151:Tbc1d10b
|
UTSW |
7 |
126,807,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6358:Tbc1d10b
|
UTSW |
7 |
126,802,584 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6480:Tbc1d10b
|
UTSW |
7 |
126,798,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7075:Tbc1d10b
|
UTSW |
7 |
126,802,410 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7731:Tbc1d10b
|
UTSW |
7 |
126,797,993 (GRCm39) |
missense |
probably benign |
|
|
R8004:Tbc1d10b
|
UTSW |
7 |
126,798,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Tbc1d10b
|
UTSW |
7 |
126,806,938 (GRCm39) |
missense |
probably benign |
|
|
R9187:Tbc1d10b
|
UTSW |
7 |
126,807,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9632:Tbc1d10b
|
UTSW |
7 |
126,807,036 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGACTCTAGGCTGGTG -3'
(R):5'- AGCCTCTTAGGTTTGATTGTACC -3'
Sequencing Primer
(F):5'- CAAGATAGGCCCTGTTTTTCCAAAC -3'
(R):5'- CCTCTTAGGTTTGATTGTACCCTGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation