Incidental Mutation 'R5780:Tbc1d10b'
| ID |
446935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d10b
|
| Ensembl Gene |
ENSMUSG00000042492 |
| Gene Name |
TBC1 domain family, member 10b |
| Synonyms |
1110003P22Rik |
| MMRRC Submission |
043205-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.546)
|
| Stock # |
R5780 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126796631-126807640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126797925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 739
(R739W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035771]
[ENSMUST00000120705]
[ENSMUST00000205321]
[ENSMUST00000206026]
[ENSMUST00000206587]
[ENSMUST00000205355]
[ENSMUST00000206081]
[ENSMUST00000205316]
[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: R739W
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492
AA Change: R739W
| 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 |
probably benign
Transcript: ENSMUST00000205321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205525
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153857
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205316
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
C |
T |
1: 85,646,039 (GRCm39) |
A189T |
probably benign |
Het |
| Acsm4 |
A |
G |
7: 119,293,068 (GRCm39) |
E66G |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,699,290 (GRCm39) |
E578G |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,397,310 (GRCm39) |
D291E |
probably benign |
Het |
| Apoa4 |
A |
G |
9: 46,153,890 (GRCm39) |
M164V |
possibly damaging |
Het |
| Atp6v1a |
A |
T |
16: 43,935,006 (GRCm39) |
M61K |
probably benign |
Het |
| Avp |
A |
G |
2: 130,422,629 (GRCm39) |
S159P |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,713,679 (GRCm39) |
L841Q |
possibly damaging |
Het |
| Cdk5rap1 |
CTT |
CT |
2: 154,187,788 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
T |
G |
9: 113,679,220 (GRCm39) |
L246R |
probably damaging |
Het |
| Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
| Dmkn |
A |
G |
7: 30,477,040 (GRCm39) |
D227G |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,522,478 (GRCm39) |
A2920V |
probably benign |
Het |
| Epb41l1 |
C |
T |
2: 156,338,445 (GRCm39) |
R163W |
probably damaging |
Het |
| Etfbkmt |
T |
A |
6: 149,048,657 (GRCm39) |
Y99N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,035,104 (GRCm39) |
Y2919H |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,643 (GRCm39) |
D234E |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,868,652 (GRCm39) |
D1443G |
probably benign |
Het |
| Fscn2 |
A |
C |
11: 120,257,494 (GRCm39) |
E285A |
probably benign |
Het |
| Hmga2 |
T |
A |
10: 120,298,583 (GRCm39) |
R79* |
probably null |
Het |
| Hrh3 |
A |
T |
2: 179,742,608 (GRCm39) |
V308E |
probably damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,248,787 (GRCm39) |
G93D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,312,712 (GRCm39) |
F4151S |
probably damaging |
Het |
| Ica1l |
C |
A |
1: 60,067,374 (GRCm39) |
E5D |
probably benign |
Het |
| Kcnma1 |
C |
A |
14: 23,436,419 (GRCm39) |
E640* |
probably null |
Het |
| Mdn1 |
C |
T |
4: 32,722,950 (GRCm39) |
H2422Y |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,299,269 (GRCm39) |
T47A |
probably damaging |
Het |
| Mmp13 |
T |
G |
9: 7,278,952 (GRCm39) |
F348V |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,181 (GRCm39) |
D675G |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,860,410 (GRCm39) |
C1610R |
probably damaging |
Het |
| Nxpe3 |
T |
A |
16: 55,686,804 (GRCm39) |
Q68L |
probably damaging |
Het |
| Or4k41 |
A |
T |
2: 111,280,178 (GRCm39) |
D231V |
probably benign |
Het |
| Or6c208 |
T |
C |
10: 129,223,939 (GRCm39) |
S146P |
probably damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,793 (GRCm39) |
M127K |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,174,997 (GRCm39) |
I751N |
probably damaging |
Het |
| Pramel19 |
C |
T |
4: 101,798,724 (GRCm39) |
L232F |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,435,593 (GRCm39) |
T3A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,070,953 (GRCm39) |
C34S |
probably damaging |
Het |
| Sema3f |
A |
G |
9: 107,559,788 (GRCm39) |
L702P |
probably damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,774,695 (GRCm39) |
L116Q |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,533,877 (GRCm39) |
V3378A |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,282,976 (GRCm39) |
I158V |
possibly damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Ube4b |
C |
T |
4: 149,415,821 (GRCm39) |
R1091Q |
probably benign |
Het |
| Vwce |
C |
A |
19: 10,627,983 (GRCm39) |
P481Q |
probably damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,139 (GRCm39) |
M33K |
probably benign |
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 |
|
|
R3887:Tbc1d10b
|
UTSW |
7 |
126,798,967 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5517:Tbc1d10b
|
UTSW |
7 |
126,797,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- TCAAAAGTAAGCATCCTGCCG -3'
(R):5'- CTCCCTAGTCTCAAGAGCAGAG -3'
Sequencing Primer
(F):5'- ATCCTGCCGGGCCTCAG -3'
(R):5'- ACCACCTCCTGTCCGCAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation