Incidental Mutation 'R5912:Tbc1d10b'
| ID |
461061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d10b
|
| Ensembl Gene |
ENSMUSG00000042492 |
| Gene Name |
TBC1 domain family, member 10b |
| Synonyms |
1110003P22Rik |
| MMRRC Submission |
044109-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.518)
|
| Stock # |
R5912 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126796631-126807640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 126799033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 491
(A491E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035771]
[ENSMUST00000120705]
[ENSMUST00000205321]
[ENSMUST00000205355]
[ENSMUST00000206026]
[ENSMUST00000205316]
[ENSMUST00000206081]
[ENSMUST00000206587]
[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 |
probably damaging
Transcript: ENSMUST00000120705
AA Change: A491E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492
AA Change: A491E
| 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: ENSMUST00000205321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205525
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205620
|
| 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 |
0.5352 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,839,897 (GRCm39) |
C166S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,989,267 (GRCm39) |
M3517K |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,256,344 (GRCm39) |
V214A |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,389 (GRCm39) |
V365A |
probably benign |
Het |
| Bivm |
G |
T |
1: 44,165,573 (GRCm39) |
G8* |
probably null |
Het |
| Cc2d2a |
A |
C |
5: 43,877,772 (GRCm39) |
D1043A |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,773,507 (GRCm39) |
I331S |
possibly damaging |
Het |
| Clip3 |
A |
C |
7: 29,998,295 (GRCm39) |
D247A |
probably benign |
Het |
| Csf3r |
A |
T |
4: 125,923,753 (GRCm39) |
I88F |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,945,079 (GRCm39) |
N316K |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,491,965 (GRCm39) |
C1133* |
probably null |
Het |
| Glud1 |
G |
A |
14: 34,033,300 (GRCm39) |
|
probably null |
Het |
| Gm5805 |
A |
G |
15: 81,857,018 (GRCm39) |
|
noncoding transcript |
Het |
| Gsg1l2 |
G |
T |
11: 67,665,540 (GRCm39) |
|
probably null |
Het |
| Ikzf1 |
C |
A |
11: 11,698,464 (GRCm39) |
S105* |
probably null |
Het |
| Kif18b |
A |
G |
11: 102,803,817 (GRCm39) |
S448P |
probably benign |
Het |
| Klhl31 |
C |
A |
9: 77,563,012 (GRCm39) |
N592K |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,552,467 (GRCm39) |
F1239L |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,268 (GRCm39) |
Y1014H |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,290,951 (GRCm39) |
L3980R |
probably damaging |
Het |
| Magi1 |
A |
T |
6: 93,685,126 (GRCm39) |
S524T |
possibly damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,722 (GRCm39) |
Y308N |
probably damaging |
Het |
| Or1e33 |
A |
C |
11: 73,738,501 (GRCm39) |
I150R |
possibly damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,046 (GRCm39) |
E22V |
possibly damaging |
Het |
| Rfx5 |
G |
A |
3: 94,866,029 (GRCm39) |
|
probably benign |
Het |
| Scn1b |
C |
T |
7: 30,817,228 (GRCm39) |
V165M |
probably damaging |
Het |
| Sema4c |
A |
C |
1: 36,593,469 (GRCm39) |
V41G |
possibly damaging |
Het |
| Serpini1 |
G |
T |
3: 75,523,914 (GRCm39) |
G174V |
probably benign |
Het |
| Sh2b1 |
T |
C |
7: 126,070,642 (GRCm39) |
E353G |
probably damaging |
Het |
| Slc7a6 |
G |
T |
8: 106,906,289 (GRCm39) |
V174L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,753,809 (GRCm39) |
|
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,935,251 (GRCm39) |
N21D |
probably damaging |
Het |
| Spdye4c |
C |
T |
2: 128,437,994 (GRCm39) |
R245* |
probably null |
Het |
| Sulf1 |
A |
G |
1: 12,856,976 (GRCm39) |
|
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,287,160 (GRCm39) |
S111P |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,955,721 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,622,030 (GRCm39) |
V383A |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,686,877 (GRCm39) |
T132A |
probably damaging |
Het |
| Traf3 |
A |
G |
12: 111,221,783 (GRCm39) |
I290V |
probably benign |
Het |
| Traf5 |
A |
G |
1: 191,730,030 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,687 (GRCm39) |
I13687N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,494,767 (GRCm39) |
D415G |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,173,825 (GRCm39) |
Y227H |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,752,071 (GRCm39) |
N705D |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,214,250 (GRCm39) |
E1444G |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,993,750 (GRCm39) |
S545P |
probably benign |
Het |
| Zfp710 |
A |
G |
7: 79,731,222 (GRCm39) |
D133G |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,934 (GRCm39) |
C229S |
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 |
|
R5780:Tbc1d10b
|
UTSW |
7 |
126,797,925 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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'- AGAGTTTATTATGAAGCCTAGGCCC -3'
(R):5'- TCTGTCCCTCGACCATTGAG -3'
Sequencing Primer
(F):5'- GGCCCAACAATACTTGTCTATGG -3'
(R):5'- AGGTTAAGACAGCCTCTTAGGTTTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation